ClinVar Miner

Variants from Centre for Mendelian Genomics, University Medical Centre Ljubljana

Location: Slovenia  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
955 777 2233 85 105 2 4116

Gene and significance breakdown #

Total genes and gene combinations: 1640
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
NF1 31 10 12 0 2 0 55
PKD1 16 9 19 1 0 0 44
TTN 5 6 25 6 2 0 42
ABCA4 19 9 14 0 0 0 40
RYR1 2 12 23 0 0 0 37
FBN1 15 8 9 0 0 0 31
USH2A 8 5 12 1 0 0 26
DMD 11 5 7 1 0 0 24
BRCA2 9 2 9 2 0 0 22
CEP290 14 2 5 0 0 0 21
TSC2 8 1 8 1 1 0 19
DYNC1H1 0 4 11 1 1 0 17
ATM 8 1 6 0 1 0 16
CHD7 4 1 10 0 1 0 16
SCN1A 5 7 3 1 0 0 16
ARID1B 5 1 8 1 0 0 15
COL4A5 4 7 4 0 0 0 15
MYBPC3 6 1 8 0 0 0 15
COL5A1 1 2 10 1 0 0 14
COL7A1 7 2 5 0 0 0 14
KMT2D 3 2 6 2 1 0 14
MYH7 0 5 9 0 0 0 14
NOTCH3 3 4 8 0 0 0 14
CLCN1 4 6 4 0 0 0 13
CREBBP 1 3 8 1 0 0 13
DSP 1 3 9 0 0 0 13
PTPN11 8 0 3 0 2 0 13
SPAST 7 1 4 0 1 0 13
ANKRD11 1 4 5 2 0 0 12
ATM, C11orf65 7 4 1 0 0 0 12
ATP7B 4 3 5 0 0 0 12
BRCA1 9 0 1 2 1 0 12
BRIP1 1 0 11 0 0 0 12
CHEK2 5 3 4 0 0 0 12
FLNC 1 2 9 0 0 0 12
MYO7A 1 1 9 0 1 0 12
COL1A1 4 2 5 0 0 0 11
COL2A1 3 4 4 0 0 0 11
FLNA 3 3 5 0 0 0 11
NIPBL 4 3 4 0 0 0 11
PALB2 5 0 5 1 0 0 11
ATP1A3 4 2 4 0 0 0 10
CACNA1A 0 4 6 0 0 0 10
CAPN3 5 2 3 0 0 0 10
GBA1, LOC106627981 5 2 3 0 0 2 10
LMNA 3 1 6 0 0 0 10
MECP2 7 2 1 0 0 0 10
MYH14 0 0 10 0 0 0 10
PMS2 3 3 4 0 0 0 10
RYR2 1 1 8 0 0 0 10
SOS1 2 1 7 0 0 0 10
SYNE1 1 2 7 0 0 0 10
TMEM67 3 3 4 0 0 0 10
CRB1 3 2 4 0 0 0 9
GJB2 7 1 1 0 0 0 9
KCNQ2 1 1 7 0 0 0 9
KIF1A 1 1 7 0 0 0 9
NPC1 4 4 0 0 1 0 9
PKD2 5 0 4 0 0 0 9
PKHD1 4 3 2 0 0 0 9
SCN1A, SCN9A 1 0 7 0 1 0 9
SCN5A 2 3 5 0 0 0 9
SYNGAP1 1 4 4 0 0 0 9
TCF4 4 0 4 1 0 0 9
TSC1 6 1 2 0 0 0 9
TYR 4 4 2 0 0 0 9
BARD1 2 0 5 0 1 0 8
COL1A2 2 3 3 0 0 0 8
COL4A2 0 0 7 0 1 0 8
EHMT1 1 3 2 2 0 0 8
KAT6B 1 2 3 1 1 0 8
LRRK2 0 0 8 0 0 0 8
MSH2 3 0 3 0 2 0 8
MSH6 5 1 2 0 0 0 8
NSD1 3 1 4 0 0 0 8
PCDH15 2 0 6 0 0 0 8
PKP2 2 2 2 2 0 0 8
PTEN 3 3 2 0 0 0 8
RELN 0 1 7 0 0 0 8
SPG11 1 4 4 0 0 0 8
TRPV4 2 1 5 0 0 0 8
ABCD1 2 3 2 0 0 0 7
ANO5 2 3 3 0 0 0 7
BRAF 1 2 4 0 0 0 7
CIC 0 0 6 1 0 0 7
COL11A1 1 1 5 0 0 0 7
COL4A1 0 0 4 1 2 0 7
COL4A3, MFF-DT 1 3 4 0 0 0 7
COL4A4 0 3 4 0 0 0 7
COL5A2 0 1 6 0 0 0 7
DNM2 2 1 4 0 0 0 7
ELN 2 0 4 1 0 0 7
FBN2 0 2 5 0 0 0 7
FGFR3 6 0 1 0 0 0 7
FIG4 2 0 5 0 0 0 7
GNAS 3 0 3 1 0 0 7
GRIN2B 1 3 3 0 0 0 7
GUCY2D 0 2 5 0 0 0 7
KCNH2 1 1 5 0 0 0 7
KRIT1 3 1 3 0 0 0 7
MFN2 2 2 3 0 0 0 7
OPA1 0 2 4 1 0 0 7
PDE6B 0 1 6 0 0 0 7
SPTAN1 0 1 6 0 0 0 7
SPTBN2 0 0 7 0 0 0 7
SYNE2 0 0 5 1 1 0 7
ABCC6 2 3 1 0 0 0 6
ALPL 1 4 1 0 0 0 6
APC 3 0 3 0 0 0 6
ARSA 6 0 0 0 0 0 6
AUTS2 1 0 5 0 0 0 6
CAMTA1 0 0 4 2 0 0 6
CDH1 3 0 3 0 0 0 6
CDHR1 2 1 4 0 0 0 6
CHD2 0 0 4 2 0 0 6
CPLANE1 4 1 1 0 0 0 6
DSG2 0 2 4 0 0 0 6
DYNC2H1 3 1 2 0 0 0 6
EP300 0 0 5 1 0 0 6
FLNB 0 1 5 0 0 0 6
GALC 1 3 2 0 0 0 6
GLI2 0 0 4 2 0 0 6
HDAC8 3 1 2 0 0 0 6
HERC2 2 0 4 0 0 0 6
HMBS 4 1 1 0 0 0 6
KCNMA1 0 0 6 0 0 0 6
LAMA2 2 2 2 0 0 0 6
LOC102724058, SCN1A 3 2 1 0 0 0 6
MED12 1 1 2 2 0 0 6
MED13L 2 1 3 0 0 0 6
MME 3 0 3 0 0 0 6
MPZ 0 4 2 0 0 0 6
PDHA1 1 2 3 0 0 0 6
PIEZO2 1 0 5 0 0 0 6
PLEC 0 0 6 0 0 0 6
POMT1 2 0 3 0 1 0 6
RET 3 0 3 0 0 0 6
RHO 3 2 1 0 0 0 6
RP1L1 1 1 4 0 0 0 6
SMC1A 2 1 3 0 0 0 6
SNRNP200 0 0 6 0 0 0 6
STK11 1 1 4 0 0 0 6
WFS1 1 0 5 0 0 0 6
ACO2 0 0 5 0 0 0 5
ANK3 0 0 5 0 0 0 5
ATP7A 0 1 4 0 0 0 5
BEST1 0 2 3 0 0 0 5
CACNA1G 0 0 5 0 0 0 5
CBL 0 0 5 0 0 0 5
CC2D2A 2 0 3 0 0 0 5
CCDC40 0 3 2 0 0 0 5
CFTR 4 1 1 0 0 0 5
CHD8 1 0 4 0 0 0 5
CLCNKB, LOC106501713 1 1 2 0 1 0 5
CNGB3 4 0 1 0 0 0 5
COL3A1 1 2 2 0 0 0 5
COL6A1 1 1 3 0 0 0 5
DHCR7 3 1 0 0 1 0 5
DYSF 1 1 3 0 0 0 5
FGFR2 1 2 2 0 0 0 5
GAA 2 3 0 0 0 0 5
GRIN2A 0 0 5 0 0 0 5
HIVEP2 0 0 5 0 0 0 5
HSPG2 0 1 3 0 1 0 5
IFIH1 0 1 4 0 0 0 5
IMPDH1 0 1 4 0 0 0 5
IQSEC2 0 1 2 1 1 0 5
JAG1 2 0 3 0 0 0 5
JUP 0 0 5 0 0 0 5
KCNT1 0 0 4 0 1 0 5
MACF1 0 0 5 0 0 0 5
MAGEL2 0 1 3 0 1 0 5
MVP-DT, PRRT2 1 0 4 0 0 0 5
MYH3 0 1 4 0 0 0 5
NOTCH1 0 0 5 0 0 0 5
NPHS1 2 2 1 0 0 0 5
PDGFRB 1 0 3 0 1 0 5
POLG, POLGARF 4 0 0 1 0 0 5
PRKAG2 1 0 4 0 0 0 5
PRPF8 0 0 5 0 0 0 5
PTCH1 1 0 4 0 0 0 5
RAD51C 4 0 1 0 0 0 5
RAI1 0 0 2 1 2 0 5
RB1 4 1 0 0 0 0 5
RERE 0 0 5 0 0 0 5
RPGR 2 1 2 0 0 0 5
RPGRIP1L 0 3 2 0 0 0 5
RPS6KA3 1 1 3 0 0 0 5
SCN8A 0 2 2 0 1 0 5
SETBP1 1 1 3 0 0 0 5
SMARCA4 0 0 5 1 0 0 5
SPG7 2 2 2 0 0 0 5
TBCEL-TECTA, TECTA 1 1 3 0 0 0 5
TH 2 0 3 0 0 0 5
WWOX 0 2 3 0 0 0 5
AARS2, POLR1C 1 2 1 0 0 0 4
ABCC8 0 3 2 0 0 0 4
ACVRL1 3 0 1 0 0 0 4
ADNP 0 2 1 1 0 0 4
ALDH18A1 0 1 3 0 0 0 4
ALOX12B 3 1 0 0 0 0 4
AMPD1 0 2 2 0 0 0 4
APOB 0 1 3 0 0 0 4
ATP1A2 0 0 4 0 0 0 4
ATR 0 1 3 0 0 0 4
ATRX 0 2 2 0 0 0 4
BCOR 0 0 4 0 0 0 4
BRCA1, LOC126862571 2 0 1 0 1 0 4
BTD 3 0 1 0 0 0 4
CACNA1C 0 0 4 0 0 0 4
CACNA1F 2 1 2 0 0 0 4
CASK 1 2 1 0 0 0 4
CASR 0 2 2 0 0 0 4
CBS 4 0 0 0 0 0 4
CDH23 0 0 4 0 0 0 4
CDKL5 1 1 2 0 0 0 4
CDKL5, RS1 0 2 2 0 0 0 4
CDON 0 0 4 0 0 0 4
CNGA3 2 3 0 0 0 0 4
COL12A1 0 0 4 0 0 0 4
COL17A1 2 0 2 0 0 0 4
COL18A1, SLC19A1 1 2 1 0 0 0 4
COL6A3 0 0 4 0 0 0 4
DEPDC5 0 1 3 0 0 0 4
DNAH5 1 0 3 0 0 0 4
DNMT1 0 0 4 0 0 0 4
DOCK8 1 0 3 0 0 0 4
DSC2 0 0 3 1 0 0 4
EFTUD2 1 1 2 0 0 0 4
ERCC2 0 1 3 0 0 0 4
FH 0 2 2 0 0 0 4
FKRP 1 0 3 0 0 0 4
GFAP 0 1 3 0 0 0 4
GJA1 1 2 1 0 0 0 4
GRIN1 0 1 3 0 0 0 4
HEXA 1 2 1 0 0 0 4
IGHMBP2 1 3 0 0 0 0 4
IMPG2 2 0 2 0 0 0 4
INF2 0 1 3 0 0 0 4
INPP5E 0 1 3 0 0 0 4
KCNA5 0 0 4 0 0 0 4
KCNC1 0 0 4 0 0 0 4
KCNQ1 2 1 1 0 0 0 4
KIDINS220 0 0 4 0 0 0 4
LOC126862264, MEFV 2 0 2 0 0 0 4
LZTR1 1 2 1 0 0 0 4
MEN1 4 0 0 0 0 0 4
MFSD8 1 2 1 0 0 0 4
MITF 1 1 2 0 0 0 4
MKS1 3 0 1 0 0 0 4
MT-ATP6 1 0 3 0 0 0 4
MTOR 0 0 4 0 0 0 4
MYH6 0 0 4 0 0 0 4
MYH9 0 2 2 0 0 0 4
MYO15A 1 2 1 0 0 0 4
MYPN 0 0 4 0 0 0 4
NEFL 2 1 2 0 0 0 4
NPR2 0 2 2 0 0 0 4
NR2F1 2 2 0 0 0 0 4
NRXN1 0 0 3 1 0 0 4
OTC 1 0 3 0 0 0 4
PAH 4 0 0 0 0 0 4
PCCB 0 0 4 0 0 0 4
PCDH19 1 0 3 0 0 0 4
PEX6 1 2 1 0 0 0 4
PIGL 0 0 4 0 0 0 4
PIK3CA 1 0 3 0 0 0 4
PIK3R2 1 0 3 0 0 0 4
PMM2 3 1 0 0 0 0 4
PNPLA6 0 3 2 0 0 0 4
POGZ 1 1 2 0 0 0 4
POLD1 0 0 3 1 0 0 4
PQBP1 2 1 1 0 0 0 4
PRPH2 2 2 0 0 0 0 4
PRX 0 1 3 0 0 0 4
RIMS1 0 0 4 0 0 0 4
RYR3 0 0 4 0 0 0 4
SATB2 1 1 2 0 0 0 4
SCN2A 0 1 3 0 0 0 4
SCN4A 1 2 2 0 0 0 4
SDHB 3 0 1 0 0 0 4
SETD2 0 0 3 0 1 0 4
SETX 0 0 4 0 0 0 4
SLC26A4 0 2 2 0 0 0 4
SLC2A1 1 1 1 0 1 0 4
SPTA1 1 0 3 0 0 0 4
TBC1D24 1 0 3 0 0 0 4
TNNT2 0 0 4 0 0 0 4
TPM1 1 0 3 0 0 0 4
TPO 1 1 2 0 0 0 4
TRIP12 1 0 3 0 0 0 4
TULP1 1 2 1 0 0 0 4
VPS13B 2 0 1 0 1 0 4
WDR19 0 0 4 0 0 0 4
ZC4H2 2 0 2 0 0 0 4
AARS1 0 0 3 0 0 0 3
ABCB11 2 0 1 0 0 0 3
ACAT1 0 2 1 0 0 0 3
ACTA1 0 1 2 0 0 0 3
ACTA2 1 0 2 0 0 0 3
ADAMTSL2 0 0 3 0 0 0 3
ADSL 3 0 0 0 0 0 3
AFF2 0 0 3 0 0 0 3
AIFM1, RAB33A 0 2 1 0 0 0 3
ALDH7A1 2 1 0 0 0 0 3
ANK1 0 1 2 0 0 0 3
ANK2 0 0 3 0 0 0 3
AP4B1 3 0 0 0 0 0 3
ASS1 2 1 0 0 0 0 3
ATL1 1 0 2 0 0 0 3
C17orf107, CHRNE 0 1 2 0 0 0 3
CACNB2 0 0 3 0 0 0 3
CDK5RAP2 1 0 2 0 0 0 3
CERKL 2 1 0 0 0 0 3
CHAT 2 0 1 0 0 0 3
CHD4 0 0 3 0 0 0 3
CHRNA2 0 0 3 0 0 0 3
CHRND 0 2 1 0 0 0 3
CHRNG 2 0 1 0 0 0 3
CNNM2 0 0 3 0 0 0 3
COL5A1, LOC101448202 0 2 1 0 0 0 3
COL6A2 1 1 1 0 0 0 3
COQ8A 0 2 1 0 0 0 3
CPT1A 0 0 3 0 0 0 3
CRYBB2 0 0 3 0 0 0 3
CSF1R 0 0 3 0 0 0 3
CYP11B1, LOC106799833 0 1 2 0 0 0 3
DAG1 0 0 3 0 0 0 3
DDX3X 1 1 1 0 0 0 3
DIAPH1 0 0 3 0 0 0 3
DTNA 0 1 2 0 0 0 3
DVL1 0 1 2 0 0 0 3
DYRK1A 2 1 0 0 0 0 3
EIF2B4 0 1 2 0 0 0 3
EPM2A 0 0 3 0 0 0 3
EXT1 2 0 1 0 0 0 3
EYA1 0 0 3 0 0 0 3
EYS 1 0 2 0 0 0 3
FGFR1 1 0 2 0 0 0 3
FLG 1 0 2 0 0 0 3
FLT4 0 1 2 0 0 0 3
FOXG1 0 1 2 0 0 0 3
FOXP1 1 1 1 0 0 0 3
G6PC1 3 0 0 0 0 0 3
GARS1 0 0 2 0 1 0 3
GATAD2B 0 1 2 0 0 0 3
GBE1 1 0 0 0 2 0 3
GFM1 0 1 2 0 0 0 3
GH-LCR, SCN4A 2 0 1 0 0 0 3
GJB1 0 3 0 0 0 0 3
GLA, RPL36A-HNRNPH2 1 1 1 0 0 0 3
GTPBP3 0 0 3 0 0 0 3
HEPACAM 1 0 2 0 0 0 3
HGSNAT 0 1 2 0 0 0 3
HNRNPU 0 0 3 0 0 0 3
HYLS1, PUS3 0 2 1 0 0 0 3
IDUA, SLC26A1 0 2 0 0 1 0 3
ITPR1 0 0 3 0 0 0 3
KIF1B 0 0 3 0 0 0 3
KIF5A 0 1 1 1 0 0 3
KMT2A 0 0 3 0 0 0 3
KMT2C 0 0 3 0 0 0 3
LAMA4 0 0 3 0 0 0 3
LBR 1 1 1 0 0 0 3
LDB3 0 0 3 0 0 0 3
LOC126861897, MHRT, MYH7 0 1 2 0 0 0 3
LOC126861898, MYH7 1 2 0 0 0 0 3
LOC129992813, PKD2 2 0 1 0 0 0 3
LONP1 0 1 1 1 0 0 3
LRP5 0 0 3 0 0 0 3
MAPK8IP3 0 0 3 0 0 0 3
MASP1 0 3 0 0 0 0 3
MBD5 0 1 2 0 0 0 3
MLH1 2 1 0 0 0 0 3
MRE11 0 0 3 0 0 0 3
MT-CO3 0 0 3 0 0 0 3
MTFMT 2 0 0 0 1 0 3
MTHFR 1 1 1 0 0 0 3
MTO1 1 1 0 1 0 0 3
NACC1 0 0 3 0 0 0 3
NALCN 0 0 3 0 0 0 3
NDP 0 3 0 0 0 0 3
NDUFAF6 0 1 2 0 0 0 3
NEK1 0 1 2 0 0 0 3
NF2 1 0 2 0 0 0 3
NFIX 1 1 1 0 0 0 3
NIN 0 1 2 0 0 0 3
NNT 0 1 0 0 2 0 3
NPHP3, NPHP3-ACAD11 2 0 1 0 0 0 3
NR2E3 2 0 1 0 0 0 3
PAFAH1B1 0 2 1 0 0 0 3
PDE8B 0 0 3 0 0 0 3
PLOD1 2 0 1 0 0 0 3
PLP1, RAB9B 1 1 1 0 0 0 3
PMP22 1 1 1 0 0 0 3
POMGNT1, TSPAN1 2 0 1 0 0 0 3
PPM1D 0 1 2 0 0 0 3
PRDM16 0 0 3 0 0 0 3
PRMT7 2 0 1 0 0 0 3
PROM1 0 1 1 1 0 0 3
PRPF6 0 0 3 0 0 0 3
PSEN1 1 2 0 0 0 0 3
PTPN23 0 0 3 0 0 0 3
RECQL4 0 2 0 0 1 0 3
RELN, SLC26A5 0 0 3 0 0 0 3
RIGI 0 0 3 0 0 0 3
RNF213 0 0 3 0 0 0 3
ROGDI 0 1 1 1 0 0 3
RPE65 1 1 1 0 0 0 3
SDHA 1 0 2 0 0 0 3
SELENON 1 1 1 0 0 0 3
SETD1A 0 0 3 0 0 0 3
SGCA 1 1 1 0 0 0 3
SHANK3 0 0 2 1 0 0 3
SMARCAL1 3 0 0 0 0 0 3
SMARCC2 1 1 1 0 0 0 3
SPR 0 0 3 0 0 0 3
STXBP1 3 0 0 0 0 0 3
SYN1 0 0 3 0 0 0 3
SYNJ1 0 0 3 0 0 0 3
SZT2 0 0 2 0 1 0 3
TAF1 0 0 3 0 0 0 3
TGFBR2 0 1 2 0 0 0 3
TOPORS 0 0 3 0 0 0 3
TRPM4 0 0 3 0 0 0 3
TRPS1 0 2 1 0 0 0 3
TSEN54 1 2 0 0 0 0 3
TUBB4A 0 1 2 0 0 0 3
TWIST1 0 0 2 0 1 0 3
TWNK 0 2 1 0 0 0 3
VWF 2 0 1 0 0 0 3
WASHC5 0 0 3 0 0 0 3
ZDHHC9 0 2 0 0 1 0 3
ZFYVE26 0 2 1 0 0 0 3
ZIC2 0 0 3 0 0 0 3
ZNF469 0 0 3 0 0 0 3
ABCA4, LOC126805794 0 0 2 0 0 0 2
ABCA7 0 0 2 0 0 0 2
ABCC9 0 0 2 0 0 0 2
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, RFC2, STX1A, TBL2, TMEM270, VPS37D 2 0 0 0 0 0 2
ABL1 0 0 2 0 0 0 2
ACADM 1 1 0 0 0 0 2
ACADVL 1 2 0 0 0 0 2
ADAR 1 0 1 0 0 0 2
ADCY5 0 0 2 0 0 0 2
AGA 1 0 1 0 0 0 2
AHDC1 0 0 2 0 0 0 2
AK9 0 0 2 0 0 0 2
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 2 0 0 0 0 0 2
AKAP9 0 0 2 0 0 0 2
AKT3 0 1 1 0 0 0 2
ALS2 0 2 0 0 0 0 2
AMER1 0 0 2 0 0 0 2
AMN 1 0 1 0 0 0 2
AMT 0 1 1 0 0 0 2
AP4E1 0 0 2 0 0 0 2
APOE 1 0 1 0 0 0 2
APP 0 0 2 0 0 0 2
AR 1 0 1 0 0 0 2
AR, LOC109504725 1 0 1 0 0 0 2
ARHGEF10 0 0 2 0 0 0 2
ARID1A 0 1 2 0 0 0 2
ARX 0 1 0 1 0 0 2
ASCC3 0 1 1 0 0 0 2
ASTN2, TRIM32 1 1 0 0 0 0 2
ASXL1 1 0 1 0 0 0 2
ASXL2 0 0 2 0 0 0 2
ASXL3 1 1 0 0 0 0 2
ATP1A1 0 0 2 0 0 0 2
ATP2A2 0 0 2 0 0 0 2
ATP6V1A 0 0 2 0 0 0 2
ATP8A2 0 2 0 0 0 0 2
ATRIP, ATRIP-TREX1, TREX1 1 1 0 0 0 0 2
ATXN2 0 0 1 0 1 0 2
AURKB 0 0 1 0 1 0 2
B3GLCT 1 1 0 0 0 0 2
BBS10 2 0 0 0 0 0 2
BCKDHA 0 2 0 0 0 0 2
BICD2 0 1 1 0 0 0 2
BIVM-ERCC5, ERCC5 0 1 0 0 1 0 2
BLOC1S1-RDH5, RDH5 0 2 0 0 0 0 2
BLTP1 0 1 1 0 0 0 2
BPTF 0 0 2 0 0 0 2
C19orf12 2 0 0 0 0 0 2
C2CD3 0 0 1 0 1 0 2
CACNA1A, LOC126862865 0 0 1 1 0 0 2
CACNA1E 0 0 2 0 0 0 2
CACNA2D4 0 0 2 0 0 0 2
CATIP, PNKD 0 0 2 0 0 0 2
CC2D1A 0 0 2 0 0 0 2
CCDC8 0 2 0 0 0 0 2
CCM2 1 0 1 0 0 0 2
CDKN2A 1 0 1 0 0 0 2
CENPF 0 0 1 1 0 0 2
CEP152 0 2 0 0 0 0 2
CERS1, GDF1 0 0 2 0 0 0 2
CHAMP1 0 0 2 0 0 0 2
CHKB, CHKB-CPT1B 0 0 2 0 0 0 2
CHM 0 2 0 0 0 0 2
CHRNB1 0 1 1 0 0 0 2
CNGB1 0 0 2 0 0 0 2
CNKSR2 0 0 2 0 0 0 2
CNTNAP2 0 1 0 1 0 0 2
COL11A2 0 1 1 0 0 0 2
COL18A1 0 2 0 0 0 0 2
COL1A1, LOC126862586 2 0 0 0 0 0 2
COL9A1 0 0 2 0 0 0 2
CPT2 0 1 1 0 0 0 2
CYP1B1 1 0 1 0 0 0 2
CYP24A1 1 0 1 0 0 0 2
CYP4F22 0 0 2 0 0 0 2
DARS2 2 0 0 0 0 0 2
DCTN1 0 0 2 0 0 0 2
DEAF1 0 0 1 1 0 0 2
DES 0 0 2 0 0 0 2
DLAT 1 0 1 0 0 0 2
DNAH11 0 1 1 0 0 0 2
DNAH9 0 0 2 0 0 0 2
DNAJB6 0 0 2 0 0 0 2
DNHD1 0 0 2 0 0 0 2
DSG1 0 2 0 0 0 0 2
DSPP 0 0 2 0 0 0 2
DVL3 0 0 2 0 0 0 2
EIF2B5 0 1 1 0 0 0 2
ERCC6 1 1 0 0 0 0 2
ESPN 0 0 2 0 0 0 2
EVC2 0 1 1 0 0 0 2
F7 0 2 0 0 0 0 2
F8 1 0 1 0 0 0 2
FAT4 0 0 2 0 0 0 2
FBLN5 0 0 2 0 0 0 2
FBN1, LOC113939944 2 0 0 0 0 0 2
FBXW4 0 0 2 0 0 0 2
FGD1 1 0 1 0 0 0 2
FGF14 0 0 2 0 0 0 2
FLCN 1 0 1 0 0 0 2
FMR1 0 1 0 0 1 0 2
FOXC1 0 1 1 0 0 0 2
FOXRED1 1 0 1 0 0 0 2
FPGT-TNNI3K, LRRC53, TNNI3K 0 0 2 0 0 0 2
FREM2 1 0 1 0 0 0 2
FSHR 1 0 1 0 0 0 2
FZD4, PRSS23 0 0 1 1 0 0 2
G6PD 1 0 1 0 0 0 2
GATA4 0 0 2 0 0 0 2
GCH1 1 1 0 0 0 0 2
GDAP1 2 0 0 0 0 0 2
GDNF 0 0 2 0 0 0 2
GHR 1 0 2 0 0 0 2
GLDC 0 2 0 0 0 0 2
GLI3 0 0 2 0 0 0 2
GLMN 2 0 0 0 0 0 2
GLRA1 0 0 2 0 0 0 2
GLYCTK 0 0 2 0 0 0 2
GMPPB 0 2 0 0 0 0 2
GNAT1 0 0 2 0 0 0 2
GNPTAB 1 1 1 0 0 0 2
GNRHR 2 0 0 0 0 0 2
GPC3 0 0 2 0 0 0 2
GPD1L 0 0 2 0 0 0 2
GPHN, RDH12 1 1 0 0 0 0 2
GPR143 0 1 1 0 0 0 2
GPR179 0 0 2 0 0 0 2
GUSB 0 0 2 0 0 0 2
GYG1 1 0 1 0 0 0 2
HDAC4 0 0 2 0 0 0 2
HFE 1 0 1 0 0 0 2
HMGCL 2 0 0 0 0 0 2
HNF4A 0 0 2 0 0 0 2
HOXD13 1 0 1 0 0 0 2
ITCH 0 1 1 0 0 0 2
ITGB3 0 2 0 0 0 0 2
KANSL1 0 0 2 0 0 0 2
KBTBD13 0 0 2 0 0 0 2
KCNH1 0 0 2 0 0 0 2
KCNJ2 1 0 1 0 0 0 2
KCNQ3 0 1 1 0 0 0 2
KCNQ5 0 0 2 0 0 0 2
KIAA0586 2 0 0 0 0 0 2
KIF11 0 1 1 0 0 0 2
KIF1B, LOC126805614 0 0 2 0 0 0 2
KIF7 0 1 1 0 0 0 2
KIRREL3 0 0 2 0 0 0 2
KMT2B 0 0 2 0 0 0 2
LAMA1 0 2 0 0 0 0 2
LAMB1 0 0 2 0 0 0 2
LAMC3 0 0 2 0 0 0 2
LDLR 2 0 0 0 0 0 2
LGI1 0 0 2 0 0 0 2
LIAS 0 1 1 0 0 0 2
LOC112543452, MAST1 0 0 2 0 0 0 2
LOC126806462, SATB2 0 2 0 0 0 0 2
LOC126859690, PKHD1 2 0 0 0 0 0 2
LOC126860392, RP1 0 1 1 0 0 0 2
LOC126860469, ZFPM2 0 0 2 0 0 0 2
LOC126860802, ZMYND11 0 0 1 0 1 0 2
LOC126861318, MMP13 1 0 1 0 0 0 2
LOC126861615, PAH 1 1 0 0 0 0 2
LOC126862902, RYR1 0 1 1 0 0 0 2
LOC126862987, SEC23B 1 0 1 0 0 0 2
LOC130002133, PTCH1 0 0 2 0 0 0 2
LOC130056709, NIPA1 0 0 1 0 1 0 2
LRSAM1 0 1 1 0 0 0 2
LTBP2 0 0 2 0 0 0 2
LYST 0 0 2 0 0 0 2
MAF 0 2 0 0 0 0 2
MAP1B 0 0 2 0 0 0 2
MAP2K2 0 0 2 0 0 0 2
MBTPS2 0 0 2 0 0 0 2
MCOLN1 0 2 0 0 0 0 2
MHRT, MYH7 0 0 2 0 0 0 2
MKKS 0 1 0 1 0 0 2
MLH3 0 0 2 1 0 0 2
MMAA 1 0 1 0 0 0 2
MMUT 1 1 0 0 0 0 2
MSX2 0 0 2 0 0 0 2
MT-ND1 1 0 1 0 0 0 2
MT-ND4 0 0 2 0 0 0 2
MT-ND6 0 1 1 0 0 0 2
MT-TL1 1 0 1 0 0 0 2
MTM1 1 1 0 0 0 0 2
MTMR14 0 0 2 0 0 0 2
MTR 2 0 0 0 0 0 2
MUSK 0 2 0 0 0 0 2
MUTYH 1 0 1 0 0 0 2
MYH11 0 1 1 0 0 0 2
MYH11, NDE1 0 1 1 0 0 0 2
MYH8, MYHAS 0 0 2 0 0 0 2
MYO6 0 0 2 0 0 0 2
MYOT, PKD2L2-DT 1 1 1 0 0 0 2
NAA15 0 0 2 0 0 0 2
NAGLU 2 0 0 0 0 0 2
NBEA 0 0 2 0 0 0 2
NBN 1 0 1 0 0 0 2
NCAPH2, SCO2 1 0 1 0 0 0 2
NDN 0 0 2 0 0 0 2
NEB 0 0 2 0 0 0 2
NEB, RIF1 0 1 1 0 0 0 2
NEXMIF 0 0 2 0 0 0 2
NEXN 0 0 2 0 0 0 2
NLRP1 0 0 2 0 0 0 2
NLRP3 0 1 1 0 0 0 2
NLRP8 0 0 1 0 1 0 2
NSDHL 0 0 2 0 0 0 2
OBSL1 0 2 0 0 0 0 2
OCA2 0 1 1 0 0 0 2
OPTN 0 0 2 0 0 0 2
OTOF 1 1 0 0 0 0 2
PACS2 0 0 2 0 0 0 2
PANK2 2 0 0 0 0 0 2
PAX2 0 1 1 0 0 0 2
PC 0 1 1 0 0 0 2
PCARE 1 0 1 0 0 0 2
PDCD10 1 1 0 0 0 0 2
PDE11A 0 0 2 0 0 0 2
PDE6A 2 0 0 0 0 0 2
PDHX 0 1 1 0 0 0 2
PEX7 2 0 0 0 0 0 2
PHF6 0 0 1 0 1 0 2
PHF8 0 1 1 0 0 0 2
PHGDH 0 2 0 0 0 0 2
PHKA1 0 1 1 0 0 0 2
PHKA2 0 0 2 0 0 0 2
PIK3R1 0 1 1 0 0 0 2
PKD1L1 0 0 2 0 0 0 2
PKN3 0 0 2 0 0 0 2
PLOD2 0 2 0 0 0 0 2
PMS1 0 0 2 0 0 0 2
POLR3A 0 0 2 0 0 0 2
POLR3B 1 0 1 0 0 0 2
PPOX 2 0 0 0 0 0 2
PRDM5 0 0 1 1 0 0 2
PRKN 1 0 1 0 0 0 2
PRODH 1 1 0 0 0 0 2
PRPF3 0 0 2 0 0 0 2
RAB39B 0 0 2 0 0 0 2
RAF1 1 0 1 0 0 0 2
RAPSN 2 2 0 0 0 0 2
RBBP8 0 1 1 0 0 0 2
RBM20 1 0 1 0 0 0 2
RBP4 0 0 1 0 1 0 2
RGR 0 0 2 0 0 0 2
RNASEH2B 0 2 0 0 0 0 2
RNASET2 0 0 2 0 0 0 2
ROM1 0 0 2 0 0 0 2
RPGRIP1 1 1 0 0 0 0 2
RTTN 0 0 2 0 0 0 2
SACS 0 0 2 0 0 0 2
SBDS 1 1 0 0 0 0 2
SCN10A 0 0 2 0 0 0 2
SCN9A 1 0 1 0 0 0 2
SEC23B 1 1 0 0 0 0 2
SHH 1 0 1 0 0 0 2
SHROOM4 0 0 1 1 0 0 2
SIPA1L3 0 0 2 0 0 0 2
SKI 0 1 1 0 0 0 2
SLC12A3 1 0 1 0 0 0 2
SLC1A2 0 0 2 0 0 0 2
SLC20A2 1 0 1 0 0 0 2
SLC25A24 2 0 0 0 0 0 2
SLC25A4 1 1 2 0 0 0 2
SLC37A4 1 1 0 0 0 0 2
SLC6A8 0 1 1 0 0 0 2
SLC9A6 0 0 1 1 0 0 2
SMAD3 0 2 1 0 0 0 2
SMARCA2 0 0 1 0 1 0 2
SMARCB1 1 1 0 0 0 0 2
SMCHD1 0 0 2 0 0 0 2
SNHG14, UBE3A 1 1 0 0 0 0 2
SOD1 1 0 1 0 0 0 2
SOX5 0 2 0 0 0 0 2
SPEG 0 0 2 0 0 0 2
SPINK1 2 0 0 0 0 0 2
SPINK5 0 2 0 0 0 0 2
STAT3 0 0 2 0 0 0 2
STIM1 0 0 2 0 0 0 2
STRA6 0 0 2 0 0 0 2
SURF1 1 1 0 0 0 0 2
SYT2 0 1 1 0 0 0 2
TBK1 1 0 1 0 0 0 2
TBX6 0 0 2 0 0 0 2
TCAP 0 0 2 0 0 0 2
TCIRG1 0 2 0 0 0 0 2
TCOF1 1 0 1 0 0 0 2
TEK 0 0 2 0 0 0 2
TENM4 0 0 2 0 0 0 2
TFAP2A 1 1 0 0 0 0 2
TGFB3 0 0 2 0 0 0 2
THAP1 0 1 1 0 0 0 2
TMC1 0 0 2 0 0 0 2
TMEM70 2 0 0 0 0 0 2
TNC 0 0 2 0 0 0 2
TNXB 0 0 2 0 0 0 2
TP53 0 0 2 0 0 0 2
TPM2 0 0 2 0 0 0 2
TPP1 2 0 0 0 0 0 2
TRIO 0 0 2 0 0 0 2
TSPAN12 1 1 0 0 0 0 2
TTC8 1 2 0 0 0 0 2
TTR 0 0 2 0 0 0 2
TUBB3 1 1 0 0 0 0 2
UBA1 0 0 2 0 0 0 2
USP9X 0 0 2 0 0 0 2
VCAN 0 0 2 0 0 0 2
VCP 0 0 2 0 0 0 2
VHL 1 0 1 0 0 0 2
VPS13A 0 0 2 0 0 0 2
WDR26 1 0 1 0 0 0 2
WDR45 1 1 0 0 0 0 2
WNT10A 0 1 1 0 0 0 2
WRN 1 1 1 0 0 0 2
ZEB2 0 0 0 1 1 0 2
ZFYVE27 0 0 2 0 0 0 2
ZNF644 0 0 2 0 0 0 2
​intergenic 0 0 1 0 0 0 1
AAAS 1 0 0 0 0 0 1
AAGAB 0 1 0 0 0 0 1
AATF, ACACA, C17orf78, CCL3L1, CCL4L1, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3H, ZNHIT3 1 0 0 0 0 0 1
ABCA1, ABCA2, ABHD17B, ABITRAM, ABL1, ABO, ACTL7A, ACTL7B, ADAMTS13, ADAMTSL2, ADGRD2, AGPAT2, AGTPBP1, AIF1L, AJM1, AK1, AK8, AKNA, ALAD, ALDH1A1, ALDOB, ALG2, AMBP, ANAPC2, ANGPTL2, ANKS6, ANP32B, ANXA1, AOPEP, APBA1, ARPC5L, ARRDC1, ASB6, ASPN, ASS1, ASTN2, ATP6V1G1, AUH, BAAT, BANCR, BARHL1, BARX1, BBLN, BICD2, BRD3, BRINP1, BSPRY, C5, C8G, C9orf152, C9orf153, C9orf163, C9orf40, C9orf43, C9orf50, C9orf57, C9orf78, C9orf85, CACFD1, CACNA1B, CAMSAP1, CARD19, CARD9, CARNMT1, CAVIN4, CCDC180, CCDC183, CDC14B, CDC26, CDK20, CDK5RAP2, CDK9, CEL, CEMIP2, CENPP, CEP78, CERCAM, CFAP157, CFAP77, CFAP95, CIMIP2A, CIZ1, CKS2, CLIC3, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CORO2A, CRAT, CRB2, CTNNAL1, CTSL, CTSV, CYLC2, CYSRT1, DAB2IP, DAPK1, DAPK1-IT1, DBH, DDX31, DELEC1, DENND1A, DIPK1B, DIRAS2, DNAJC25, DNAJC25-GNG10, DNLZ, DNM1, DOLK, DOLPP1, DPH7, DPM2, DPP7, DYNC2I2, ECM2, ECPAS, EDF1, EEIG1, EGFL7, EHMT1, ELP1, ENDOG, ENG, ENTPD2, ENTPD8, ENTR1, ENTREP1, EPB41L4B, ERCC6L2, ERP44, EXD3, EXOSC2, FAM120A, FAM120AOS, FAM163B, FAM78A, FANCC, FBP1, FBP2, FBXW2, FBXW5, FCN1, FCN2, FGD3, FIBCD1, FKBP15, FKTN, FNBP1, FOXB2, FOXE1, FPGS, FRMD3, FRRS1L, FSD1L, FUBP3, FUT7, FXN, GABBR2, GADD45G, GALNT12, GAPVD1, GARNL3, GAS1, GBGT1, GCNT1, GDA, GFI1B, GKAP1, GLE1, GLT6D1, GNA14, GNAQ, GNG10, GOLGA1, GOLGA2, GOLM1, GPR107, GPR21, GPSM1, GRIN1, GRIN3A, GSN, GTF3C4, GTF3C5, HABP4, HDHD3, HEMGN, HMCN2, HNRNPK, HSD17B3, HSDL2, HSPA5, IARS1, IDNK, IER5L, INIP, INPP5E, INVS, IPPK, ISCA1, KCNT1, KIAA1958, KIF12, KIF27, KLF4, KLF9, KYAT1, LAMC3, LCN1, LCN10, LCN12, LCN15, LCN2, LCN6, LCN8, LCN9, LCNL1, LHX2, LHX3, LHX6, LINC02872, LINC02907, LINC02908, LINC02913, LMX1B, LOC651337, LPAR1, LRRC26, LRRC8A, LRSAM1, MAMDC2, MAMDC4, MAN1B1, MAPKAP1, MED22, MED27, MEGF9, MFSD14B, MIGA2, MIR126, MIR181A2, MIR181A2HG, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR2861, MIR32, MIR7-1, MIRLET7A1, MIRLET7D, MIRLET7F1, MORN5, MRPL41, MRPL50, MRPS2, MRRF, MSANTD3, MSANTD3-TMEFF1, MUSK, MVB12B, MYMK, NAA35, NACC2, NAIF1, NANS, NCBP1, NCS1, NDOR1, NDUFA8, NEK6, NELFB, NFIL3, NIBAN2, NINJ1, NIPSNAP3A, NIPSNAP3B, NMRK1, NOL8, NOTCH1, NOXA1, NPDC1, NR4A3, NR5A1, NR6A1, NRARP, NRON, NSMF, NTMT1, NTNG2, NTRK2, NUP188, NUP214, NUTM2F, NUTM2G, NXNL2, OBP2A, OBP2B, ODF2, OGN, OLFM1, OLFML2A, OMD, OR13C2, OR13C3, OR13C4, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, OR1B1, OR1J1, OR1J2, OR1J4, OR1K1, OR1L1, OR1L3, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, OR5C1, ORM1, ORM2, OSTF1, PABIR1, PAEP, PALM2AKAP2, PAPPA, PAXX, PBX3, PCA3, PCSK5, PDCL, PGAP4, PGM5, PHF19, PHF2, PHPT1, PHYHD1, PIERCE1, PIP5K1B, PIP5KL1, PKN3, PLPP7, PMPCA, PNPLA7, POLE3, POMT1, PPP1R26, PPP3R2, PPP6C, PRDM12, PRKACG, PRPF4, PRRC2B, PRRX2, PRSS47, PRUNE2, PRXL2C, PSAT1, PSMB7, PSMD5, PTAR1, PTBP3, PTCH1, PTGDS, PTGES, PTGES2, PTGR1, PTGS1, PTPA, PTPDC1, PTPN3, PTRH1, QNG1, QRFP, QSOX2, RAB14, RABEPK, RABGAP1, RABL6, RAD23B, RALGDS, RALGPS1, RAPGEF1, RASEF, RBM18, RC3H2, REXO4, RFK, RGS3, RMI1, RNF183, RNF20, RNF208, RNF224, RNU6ATAC, ROR2, RORB, RPL12, RPL35, RPL7A, RXRA, S1PR3, SAPCD2, SARDH, SCAI, SEC16A, SEC61B, SECISBP2, SEMA4D, SET, SETX, SH2D3C, SH3GLB2, SHC3, SHOC1, SLC25A25, SLC27A4, SLC28A3, SLC2A6, SLC2A8, SLC31A1, SLC31A2, SLC34A3, SLC35D2, SLC44A1, SLC46A2, SMC2, SMC5, SNAPC4, SNHG7, SNX30, SOHLH1, SPACA9, SPATA31C1, SPATA31C2, SPATA31D1, SPATA31D3, SPATA31D4, SPATA31E1, SPIN1, SPOUT1, SPTAN1, SPTLC1, SSNA1, ST6GALNAC4, ST6GALNAC6, STKLD1, STOM, STPG3, STRBP, STX17, STXBP1, SURF1, SURF2, SURF4, SURF6, SUSD1, SUSD3, SVEP1, SWI5, SYK, TAL2, TBC1D13, TBC1D2, TDRD7, TEX10, TGFBR1, TJP2, TLE1, TLE4, TLR4, TMC1, TMEFF1, TMEM141, TMEM203, TMEM210, TMEM245, TMEM250, TMEM252, TMEM268, TMEM38B, TMOD1, TNC, TNFSF15, TNFSF8, TOR1A, TOR1B, TOR2A, TOR4A, TPRN, TRAF1, TRAF2, TRIM14, TRIM32, TRMO, TRPM3, TRPM6, TRUB2, TSC1, TSTD2, TTC16, TTF1, TTLL11, TUBB4B, TUT7, TXN, TXNDC8, UAP1L1, UBAC1, UBQLN1, UCK1, UGCG, URM1, USP20, VAV2, VPS13A, WDR31, WDR38, WDR5, WHRN, WNK2, XPA, ZBTB26, ZBTB34, ZBTB43, ZBTB6, ZDHHC12, ZER1, ZFAND5, ZFP37, ZMYND19, ZNF169, ZNF189, ZNF367, ZNF462, ZNF483, ZNF484, ZNF510, ZNF618, ZNF782, ZNF79, ZNF883 0 1 0 0 0 0 1
ABCA12 0 0 0 0 1 0 1
ABCA12, SNHG31 0 0 1 0 0 0 1
ABCA4, LOC126805793 0 0 1 0 0 0 1
ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, AP3D1, APC2, ARHGAP45, ARID3A, ATP5F1D, ATP8B3, AZU1, BSG, BTBD2, C19orf25, C2CD4C, CBARP, CDC34, CFD, CIMAP1D, CIRBP, CNN2, CSNK1G2, DAZAP1, DIRAS1, DOT1L, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GADD45B, GAMT, GNA11, GNA15, GNG7, GPX4, GRIN3B, GZMM, HCN2, IZUMO4, JSRP1, KISS1R, KLF16, LINGO3, LMNB2, LSM7, MADCAM1, MBD3, MED16, MEX3D, MIDN, MIER2, MIR1909, MISP, MKNK2, MOB3A, NDUFS7, OAZ1, ONECUT3, PALM, PCSK4, PEAK3, PLEKHJ1, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, REEP6, REXO1, RNF126, RPS15, SBNO2, SCAMP4, SF3A2, SGTA, SHC2, SLC39A3, SPMAP2, SPPL2B, STK11, TCF3, THOP1, TIMM13, TLE2, TLE5, TLE6, TMEM259, TMPRSS9, TPGS1, UQCR11, WDR18, ZNF554, ZNF555, ZNF556, ZNF77 0 1 0 0 0 0 1
ABCB4 0 0 1 0 0 0 1
ABCC2 0 0 1 0 0 0 1
ABITRAM, ACTL7A, CTNNAL1, ELP1, MIR32, TMEM245 0 0 1 0 0 0 1
ACADS 1 0 0 0 0 0 1
ACADSB 1 0 0 0 0 0 1
ACAP3, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KCNAB2, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NPHP4, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 1
ACMSD, CCNT2 0 0 1 0 0 0 1
ACO2, POLR3H 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 1 0 0 0 0 0 1
ACSF3 0 0 1 0 0 0 1
ACSL4 0 0 1 0 0 0 1
ACTB 0 0 1 0 0 0 1
ACTG1 0 0 1 0 0 0 1
ACTL6B 0 0 1 0 0 0 1
ACTN2 0 0 1 0 0 0 1
ACTN4 0 0 1 0 0 0 1
ACYP1, NPC2 0 0 1 0 0 0 1
ADAM28, ADAM7, ADAMDEC1, ASAH1, ATP6V1B2, BIN3, BMP1, C8orf48, C8orf58, CCAR2, CDCA2, CHMP7, CNOT7, CSGALNACT1, DLC1, DMTN, DOCK5, DOK2, EBF2, EGR3, ENTPD4, FGF17, FGF20, FGL1, FHIP2B, GFRA2, GNRH1, HR, INTS10, KCTD9, LGI3, LONRF1, LOXL2, LPL, LZTS1, MICU3, MIR320A, MSR1, MTMR7, MTUS1, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NUDT18, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, POLR3D, PPP3CC, PSD3, R3HCC1, REEP4, RHOBTB2, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SORBS3, STC1, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRMT9B, TUSC3, VPS37A, XPO7, ZDHHC2 1 0 0 0 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 0 0 1
ADAR, LOC129931512 0 0 1 0 0 0 1
ADARB2, GTPBP4, IDI1, IDI2, LARP4B, WDR37 0 0 1 0 0 0 1
ADCK5, ADGRB1, ARC, ARHGAP39, BOP1, C8orf33, C8orf82, CCDC166, COMMD5, CPSF1, CYC1, CYP11B1, CYP11B2, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GFUS, GLI4, GML, GPAA1, GPIHBP1, GPT, GRINA, GSDMD, HGH1, HSF1, JRK, KIFC2, LRRC14, LRRC24, LY6D, LY6E, LY6H, LY6K, LY6S, LYNX1, LYPD2, MAF1, MAFA, MAPK15, MFSD3, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PSCA, PUF60, PYCR3, RECQL4, RHPN1, RPL8, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SLURP1, SPATC1, THEM6, TIGD5, TMEM249, TONSL, TOP1MT, TSNARE1, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF16, ZNF250, ZNF251, ZNF34, ZNF517, ZNF623, ZNF696, ZNF7, ZNF707 1 0 0 0 0 0 1
ADCY6 0 0 1 0 0 0 1
ADGRG1 0 0 1 0 0 0 1
ADGRG2, MAP3K15, PDHA1, SH3KBP1 0 0 1 0 0 0 1
ADGRV1 0 0 1 0 0 0 1
ADIPOQ, AHSG, BCL6, C3orf70, CRYGS, DGKG, DNAJB11, EHHADH, EIF4A2, EPHB3, ETV5, FETUB, HRG, IGF2BP2, KNG1, LIPH, LPP, MAGEF1, MAP3K13, MASP1, RFC4, RPL39L, RTP1, RTP2, RTP4, SENP2, SNORA63, SNORA81, SST, ST6GAL1, TBCCD1, TMEM41A, TRA2B, VPS8 1 0 0 0 0 0 1
ADORA2A, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GUCD1, IGLL1, LRRC75B, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 0 0 1 0 0 0 1
AFG3L2 0 0 1 0 0 0 1
AGBL1 0 0 1 0 0 0 1
AGBL4, DMRTA2, ELAVL4, FAF1 0 0 1 0 0 0 1
AGO1, LOC129930123 0 0 1 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA4, DEFA6, DEFB1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, TDRP, XKR5, ZNF596 1 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, TDRP, ZNF596 1 0 0 0 0 0 1
AGRN 0 1 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 1
AIFM3, CRKL, LZTR1, P2RX6, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7 0 0 1 0 0 0 1
AIRE 1 0 0 0 0 0 1
AKT1 0 0 1 0 0 0 1
AKT2 0 0 0 1 0 0 1
ALDH5A1 1 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 0 1 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 1
ALDOB 1 0 0 0 0 0 1
ALG1, EEF2KMT 0 0 0 0 1 0 1
ALG13 0 0 1 0 0 0 1
ALG14 0 0 1 0 0 0 1
ALG3 0 1 0 0 0 0 1
ALG8 0 1 0 0 0 0 1
ALKBH5, ATPAF2, COPS3, DRC3, DRG2, FLCN, FLII, GID4, LLGL1, MED9, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SREBF1, TOM1L2, TOP3A 1 0 0 0 0 0 1
ALMS1 1 0 0 0 0 0 1
ALPK3, NMB, PDE8A, SEC11A, SLC28A1, WDR73, ZNF592, ZSCAN2 0 0 1 0 0 0 1
ANK2, LOC126807137 0 0 1 0 0 0 1
ANKH 0 1 0 0 0 0 1
ANKRD12 0 0 1 0 0 0 1
ANKRD26 0 0 1 0 0 0 1
ANO10 0 0 1 0 0 0 1
ANO3 0 0 1 0 0 0 1
ANTXR1 0 0 1 0 0 0 1
AOPEP, FANCC 0 0 1 0 0 0 1
AP4S1 1 0 0 0 0 0 1
ARFGEF2 0 1 0 0 0 0 1
ARHGAP11B, CHRFAM7A, CHRNA7, FAN1, GOLGA8H, GOLGA8J, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 1
ARHGAP31 0 0 1 0 0 0 1
ARHGAP4, ATP6AP1, AVPR2, DNASE1L1, EMD, FLNA, GDI1, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
ARHGEF15 0 0 0 0 1 0 1
ARHGEF6 0 0 1 0 0 0 1
ARHGEF9 0 0 1 0 0 0 1
ARID1B, LOC115308161 0 0 1 0 0 0 1
ARID1B, LOC115308161, LOC129997523 0 0 1 0 0 0 1
ARID1B, TMEM242, ZDHHC14 0 0 1 0 0 0 1
ARID2 1 0 0 0 0 0 1
ARL8B, BHLHE40, CHL1, CNTN4, CNTN6, CRBN, EDEM1, EGOT, IL5RA, ITPR1, LRRN1, SETMAR, SUMF1, TRNT1 0 1 0 0 0 0 1
ARMCX5-GPRASP2, GPRASP1 0 0 1 0 0 0 1
ARSL 0 1 0 0 0 0 1
ARVCF 0 0 1 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 0 0 1 0 0 0 1
ASIC4, SPEG 0 0 1 0 0 0 1
ASPA, CLUH, LOC100288728, METTL16, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, PAFAH1B1, RAP1GAP2, SPATA22, TRPV3 1 0 0 0 0 0 1
ATAD3A 0 0 1 0 0 0 1
ATF3, AVPR1B, C1orf116, C1orf74, C4BPA, C4BPB, CAMK1G, CD34, CD46, CD55, CDK18, CNTN2, CR1, CR1L, CR2, CTSE, DSTYK, DTL, DYRK3, EIF2D, ELK4, FAM72A, FCAMR, FCMR, G0S2, GARIN4, HHAT, HSD11B1, IKBKE, IL10, IL19, IL20, IL24, INTS7, IRF6, KCNH1, KLHDC8A, LAMB3, LEMD1, LPGAT1, MAPKAPK2, MFSD4A, MIR205, MIR205HG, MIR29B2CHG, MIR29C, NEK2, NENF, NFASC, NUAK2, NUCKS1, PACC1, PFKFB2, PIGR, PLXNA2, PM20D1, PPP2R5A, RAB29, RASSF5, RBBP5, RCOR3, RD3, RHEX, SERTAD4, SLC26A9, SLC30A1, SLC41A1, SLC45A3, SRGAP2, SYT14, TMCC2, TMEM81, TRAF3IP3, TRAF5, UTP25, YOD1 1 0 0 0 0 0 1
ATOH1 0 0 1 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 0 1
ATP2A1, CD19, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1 1 0 0 0 0 0 1
ATP6AP1 0 0 1 0 0 0 1
ATP6V1B2 0 0 1 0 0 0 1
ATPAF2, LOC130060410 0 1 0 0 0 0 1
ATXN1 0 0 1 0 0 0 1
ATXN1, LOC108663993 0 0 0 1 0 0 1
ATXN10 0 0 1 0 0 0 1
ATXN10, LOC130067689 0 0 1 0 0 0 1
ATXN3, LOC108663987 0 0 0 0 1 0 1
ATXN7 0 0 0 0 1 0 1
ATXN7L3, UBTF 0 0 1 0 0 0 1
AXIN2 0 0 1 0 0 0 1
B3GNT2, CCT4, COMMD1, FAM161A, TMEM17, USP34, XPO1 0 0 1 0 0 0 1
B4GALNT1 0 0 0 0 1 0 1
BBS1 0 0 1 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 1
BBS12 1 0 0 0 0 0 1
BBS4 0 1 0 0 0 0 1
BBS5 1 0 0 0 0 0 1
BCAP31 0 0 1 0 0 0 1
BCL11A, C2orf74, CCT4, COMMD1, FAM161A, PAPOLG, PEX13, PUS10, REL, SANBR, USP34, XPO1 0 1 0 0 0 0 1
BCL11B 0 0 1 0 0 0 1
BCOR, LOC126863239 0 0 1 0 0 0 1
BCS1L 0 0 1 0 0 0 1
BEX2 0 0 1 0 0 0 1
BMI1, COMMD3-BMI1 0 0 1 0 0 0 1
BMP4 0 0 1 0 0 0 1
BMPR1A 0 0 1 0 0 0 1
BMPR2 0 0 1 0 0 0 1
BPTF, LOC130061496 0 0 1 0 0 0 1
BRAT1 0 0 0 1 0 0 1
BRPF1 0 0 1 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 0 0 1
BTK 0 0 1 0 0 0 1
BUB1B 0 0 1 0 0 0 1
C12orf4 0 1 0 0 0 0 1
C12orf60, GUCY2C 1 0 0 0 0 0 1
C1R 0 0 1 0 0 0 1
CA2 0 1 0 0 0 0 1
CA8 0 1 0 0 0 0 1
CACNA1A, LOC126862864 0 1 0 0 0 0 1
CACNA1D 0 0 1 0 0 0 1
CACNA1H 0 0 1 0 0 0 1
CACNG2 0 0 1 0 0 0 1
CAD 1 0 0 0 0 0 1
CARD14 0 0 1 0 0 0 1
CARS2 1 0 0 0 0 0 1
CASD1, SGCE 0 0 1 0 0 0 1
CAV3 0 0 1 0 0 0 1
CBFB 0 0 1 0 0 0 1
CBLIF 1 0 0 0 0 0 1
CCDC103 0 1 0 0 0 0 1
CCDC22 0 0 1 0 0 0 1
CCDC88C 0 0 1 0 0 0 1
CCN6 1 0 0 0 0 0 1
CCNH, RASA1 0 1 0 0 0 0 1
CCT3 0 0 1 0 0 0 1
CCT5 0 0 1 0 0 0 1
CD2AP 0 1 0 0 0 0 1
CDC73 1 0 0 0 0 0 1
CDH10, CDH12, LINC02899, PRDM9 0 0 1 0 0 0 1
CDH23, VSIR 0 0 1 0 0 0 1
CDH3 0 1 0 0 0 0 1
CDH8 0 0 1 0 0 0 1
CDK11B 0 0 1 0 0 0 1
CDK13 0 0 1 0 0 0 1
CDK13, LOC129998292 0 0 1 0 0 0 1
CDK14, FZD1 0 0 1 0 0 0 1
CDKN1C 0 0 1 0 0 0 1
CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
CEL 0 0 1 0 0 0 1
CENPE 0 1 0 0 0 0 1
CENPJ 1 0 0 0 0 0 1
CEP128, TSHR 1 0 0 0 0 0 1
CEP164 0 1 0 0 0 0 1
CEP78 0 0 1 0 0 0 1
CEP85L, PLN 1 0 0 0 0 0 1
CERT1, POLK 0 0 0 0 1 0 1
CFAP410 0 1 0 0 0 0 1
CFAP418 1 0 0 0 0 0 1
CFH 0 0 0 0 1 0 1
CFHR5 0 0 1 0 0 0 1
CHD1 0 0 1 0 0 0 1
CHD3 0 0 1 0 0 0 1
CHD7, LOC126860403 0 0 1 0 0 0 1
CHN1 0 0 1 0 0 0 1
CHRNA1 0 0 1 0 0 0 1
CHRNA4 0 0 1 0 0 0 1
CHRNG, TIGD1 1 0 0 0 0 0 1
CILK1 0 0 1 0 0 0 1
CILP 0 0 1 0 0 0 1
CIZ1, DNM1 0 1 0 0 0 0 1
CLCN1, FAM131B 1 0 0 0 0 0 1
CLCN2 0 0 1 0 0 0 1
CLCN5 0 1 0 0 0 0 1
CLCN5, LOC126863258 0 0 1 0 0 0 1
CLCN7 0 0 1 0 0 0 1
CLRN1 0 0 1 0 0 0 1
CLTC 0 0 1 0 0 0 1
CLUH, METTL16, PAFAH1B1, RAP1GAP2 1 0 0 0 0 0 1
CMIP 0 0 1 0 0 0 1
CNGA1, LOC101927157 0 1 0 0 0 0 1
CNPY3, CNPY3-GNMT 0 1 0 0 0 0 1
COG4 0 0 1 0 0 0 1
COG5 0 0 1 0 0 0 1
COG7 0 0 1 0 0 0 1
COL10A1, NT5DC1 0 0 1 0 0 0 1
COL12A1, LOC126859712 0 0 1 0 0 0 1
COL3A1, LOC126806446 0 0 1 0 0 0 1
COL9A2 0 0 1 0 0 0 1
COL9A3 0 1 0 0 0 0 1
COQ6 0 0 0 0 1 0 1
CP, HPS3 1 0 0 0 0 0 1
CR2 0 1 0 0 0 0 1
CRACR2A, PARP11, PRMT8, TSPAN9 0 0 1 0 0 0 1
CREB3L1 0 1 0 0 0 0 1
CREBBP, LOC130058357 0 0 1 0 0 0 1
CRELD1 0 0 1 0 0 0 1
CRTAP 0 0 1 0 0 0 1
CRX 0 0 1 0 0 0 1
CRYAB 0 0 1 0 0 0 1
CSF1R, LOC111188154 0 0 1 0 0 0 1
CSF3R 0 0 1 0 0 0 1
CSMD3 0 0 0 0 1 0 1
CSPP1 1 0 0 0 0 0 1
CSRP3 0 0 1 0 0 0 1
CSTB 1 0 0 0 0 0 1
CTBP1 0 0 1 0 0 0 1
CTC1 0 0 0 1 0 0 1
CTDP1 0 0 0 1 0 0 1
CTNNA1 0 0 1 0 0 0 1
CTNNB1 0 1 0 0 0 0 1
CTNND1, TMX2-CTNND1 0 1 0 0 0 0 1
CTRC 0 1 0 0 0 0 1
CTSA 0 0 1 0 0 0 1
CUL4B 1 0 0 0 0 0 1
CUL7 0 1 0 0 0 0 1
CYFIP1, GOLGA6L1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 1 0 0 0 0 1
CYP27A1 0 1 0 0 0 0 1
CYP2R1 0 0 1 0 0 0 1
CYP4V2 0 1 0 0 0 0 1
CYP7B1 1 0 0 0 0 0 1
DBT 0 0 1 0 0 0 1
DCAF8 0 0 1 0 0 0 1
DCC 0 0 1 0 0 0 1
DDC 0 1 0 0 0 0 1
DDHD2 0 1 0 0 0 0 1
DDR2 0 0 1 0 0 0 1
DGKE 1 0 0 0 0 0 1
DGKZ 0 0 1 0 0 0 1
DGUOK 0 0 1 0 0 0 1
DGUOK, LOC129934096 0 0 1 0 0 0 1
DHDDS 0 0 1 0 0 0 1
DHTKD1 0 0 1 0 0 0 1
DHX30 0 0 1 0 0 0 1
DICER1 1 0 0 0 0 0 1
DIP2B 0 0 1 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 1
DKC1 0 1 0 0 0 0 1
DLD 0 0 1 0 0 0 1
DLG3 0 0 1 0 0 0 1
DLX3 0 1 0 0 0 0 1
DMP1 0 0 0 0 1 0 1
DNAAF11 1 0 0 0 0 0 1
DNM1L 0 1 0 0 0 0 1
DOK7 0 0 0 0 1 0 1
DPF2 0 0 1 0 0 0 1
DPH1, HIC1, INPP5K, METTL16, MIR132, MIR212, MIR22, MNT, MYO1C, OVCA2, PAFAH1B1, PITPNA, PRPF8, RILP, RPA1, RTN4RL1, SCARF1, SERPINF1, SERPINF2, SGSM2, SLC43A2, SMG6, SMYD4, SRR, TLCD2, TSR1, WDR81 1 0 0 0 0 0 1
DPM3 0 1 0 0 0 0 1
DPP6 0 0 1 0 0 0 1
DSG2, LOC130062340 0 1 0 0 0 0 1
DST 0 0 1 0 0 0 1
DUSP6 0 0 1 0 0 0 1
DYNC2I2 0 0 0 0 1 0 1
DYNLT2B, MUC20, MUC4, PCYT1A, RNF168, SLC51A, SMCO1, TFRC, TM4SF19, TNK2, UBXN7, ZDHHC19 0 0 1 0 0 0 1
EARS2 1 0 0 0 0 0 1
EBF3 1 0 0 0 0 0 1
ECM1 0 1 0 0 0 0 1
EDA 1 0 0 0 0 0 1
EDN3 0 0 1 0 0 0 1
EED 0 0 1 0 0 0 1
EEF1A2 0 0 1 0 0 0 1
EFEMP1 0 1 0 0 0 0 1
EFNB1 1 0 0 0 0 0 1
EGF 0 0 1 0 0 0 1
EIF3F 0 1 0 0 0 0 1
EIF4A1, SENP3-EIF4A1 0 0 1 0 0 0 1
ELOVL5 0 0 1 0 0 0 1
ELP4, PAX6 0 0 1 0 0 0 1
EMD 1 0 0 0 0 0 1
EMD, FLNA 1 0 0 0 0 0 1
EMILIN2, LPIN2, METTL4, MYL12A, MYL12B, MYOM1, NDC80, SMCHD1, TGIF1 0 0 1 0 0 0 1
ENG, LOC102723566 1 0 0 0 0 0 1
ENO3 0 0 1 0 0 0 1
ENPP1 0 0 0 0 1 0 1
ENTPD1 0 0 1 0 0 0 1
EPB41L1 0 0 1 0 0 0 1
EPHA5 0 0 1 0 0 0 1
ERCC3 1 0 0 0 0 0 1
ERCC4 0 0 1 0 0 0 1
ERCC6, ERCC6-PGBD3, PGBD3 0 0 1 0 0 0 1
ERCC6, LOC126860933 0 0 1 0 0 0 1
ESCO2 1 0 0 0 0 0 1
ESRRG, GPATCH2, RRP15, SPATA17, TGFB2, USH2A 1 0 0 0 0 0 1
ETFA 0 0 1 0 0 0 1
ETHE1 0 1 0 0 0 0 1
EVI2A, LOC130060655, NF1 0 0 0 0 1 0 1
EWSR1 0 0 0 0 1 0 1
EXT2 0 0 1 0 0 0 1
EYS, PHF3 0 0 1 0 0 0 1
EZH2 0 0 0 0 1 0 1
F12 1 0 0 0 0 0 1
F2 0 0 1 0 0 0 1
FAM111A 0 0 1 0 0 0 1
FAM120C 0 0 0 0 1 0 1
FAM161A 0 1 0 0 0 0 1
FAM20C 0 0 1 0 0 0 1
FANCA 1 0 0 0 0 0 1
FANCE 0 0 0 0 1 0 1
FARS2, LOC126859565 0 0 1 0 0 0 1
FAS 0 1 0 0 0 0 1
FASTKD2 0 0 0 0 1 0 1
FBP1 0 0 1 0 0 0 1
FBXL19 0 0 1 0 0 0 1
FBXO38 0 0 1 0 0 0 1
FECH 0 0 1 0 0 0 1
FECH, LOC130062555 0 0 0 1 0 0 1
FGF10 0 0 1 0 0 0 1
FGF23 0 0 1 0 0 0 1
FGF8 0 0 1 0 0 0 1
FGFR4 0 0 1 0 0 0 1
FGFRL1 0 0 1 0 0 0 1
FKBP14 1 1 0 0 0 0 1
FLVCR2 0 0 1 0 0 0 1
FOLR1 0 1 0 0 0 0 1
FOXE3, LINC01389 0 0 1 0 0 0 1
FOXF1 0 1 0 0 0 0 1
FOXL2 0 1 0 0 0 0 1
FOXP1, LOC126806714 1 0 0 0 0 0 1
FOXP2 0 0 0 0 1 0 1
FPGT-TNNI3K, TNNI3K 0 0 1 0 0 0 1
FRAS1 0 0 1 0 0 0 1
FRMD4A 0 0 1 0 0 0 1
FRMPD4 0 0 1 0 0 0 1
FUS 0 0 1 0 0 0 1
GABRA1 0 0 1 0 0 0 1
GABRB2 0 0 1 0 0 0 1
GABRB3 0 0 1 0 0 0 1
GABRD 0 0 1 0 0 0 1
GABRG2 0 0 1 0 0 0 1
GAD1 0 0 1 0 0 0 1
GAL 0 0 1 0 0 0 1
GALE 1 0 0 0 0 0 1
GALK1, ITGB4 0 0 1 0 0 0 1
GALNS 1 0 0 0 0 0 1
GALT 1 0 0 0 0 0 1
GAREM2, HADHA 1 0 0 0 0 0 1
GATA2 0 0 1 0 0 0 1
GATA3 1 0 0 0 0 0 1
GBA1 0 0 1 0 0 0 1
GCDH 0 0 0 1 0 0 1
GCDH, LOC117125594 0 0 1 0 0 0 1
GCLC 0 0 1 0 0 0 1
GCOM1, MYZAP 0 1 0 0 0 0 1
GCSH, LOC130059495 0 0 1 0 0 0 1
GDF3 0 0 0 1 0 0 1
GDI1 0 0 1 0 0 0 1
GFER 0 0 1 0 0 0 1
GFM1, LXN 0 0 1 0 0 0 1
GFOD1, MCUR1, NOL7, PHACTR1, RANBP9, RNF182, SIRT5, TBC1D7 0 0 1 0 0 0 1
GHR, LOC107963950 0 0 1 0 0 0 1
GIGYF2 0 0 1 0 0 0 1
GJA8 0 0 1 0 0 0 1
GJB3 0 0 1 0 0 0 1
GJC2 0 1 0 0 0 0 1
GK 0 0 1 0 0 0 1
GLB1 0 1 0 0 0 0 1
GLDN 0 1 0 0 0 0 1
GLUD1, SHLD2 0 0 1 0 0 0 1
GNAO1 0 0 1 0 0 0 1
GNE 0 0 1 0 0 0 1
GNPAT 0 0 1 0 0 0 1
GORAB 0 0 1 0 0 0 1
GPHN, RDH12, ZFYVE26 1 0 0 0 0 0 1
GRHL3 0 0 1 0 0 0 1
GRIA1 0 0 1 0 0 0 1
GRIP1 0 0 1 0 0 0 1
GRN 0 0 1 0 0 0 1
GSDME 0 0 1 0 0 0 1
GSN 0 0 1 0 0 0 1
H1-4 0 0 1 0 0 0 1
H3-3A 0 0 1 0 0 0 1
HADHB 0 0 1 0 0 0 1
HBA-LCR, NPRL3 0 0 1 0 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 0 1
HBB, HBD, LOC106099062, LOC106099063, LOC107133510, LOC110006319 1 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 0 1
HCN2 0 0 1 0 0 0 1
HDAC6 0 0 1 0 0 0 1
HERC1 0 0 1 0 0 0 1
HINT1 1 0 0 0 0 0 1
HMMR 0 0 1 0 0 0 1
HNF1A 0 1 0 0 0 0 1
HNRNPK 1 0 0 0 0 0 1
HOXD10 0 0 1 0 0 0 1
HPGD 1 0 0 0 0 0 1
HPRT1 1 0 0 0 0 0 1
HPS1 1 0 0 0 0 0 1
HS6ST1 0 0 1 0 0 0 1
HSD17B4, LOC129994460 1 0 0 0 0 0 1
HSF4 0 0 1 0 0 0 1
HSPA9 1 0 0 0 0 0 1
HSPB1 1 0 0 0 0 0 1
HSPB3 0 0 1 0 0 0 1
HSPB8 0 0 1 0 0 0 1
HSPD1 0 0 0 1 0 0 1
HUWE1 0 0 1 0 0 0 1
HYDIN 0 1 0 0 0 0 1
IDH2 0 0 1 0 0 0 1
IFNAR2-IL10RB, IL10RB 0 0 1 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
IFT43 0 0 1 0 0 0 1
IGF1R 0 0 1 0 0 0 1
IGF2, INS-IGF2 0 0 1 0 0 0 1
IHH 0 0 1 0 0 0 1
IKBKG 1 0 0 0 0 0 1
ILDR1 0 1 0 0 0 0 1
ILK, TAF10 0 0 1 0 0 0 1
INPPL1 1 0 0 0 0 0 1
INS, INS-IGF2 1 0 0 0 0 0 1
INSR 0 0 1 0 0 0 1
INTS1 0 0 1 0 0 0 1
IRF6 1 0 0 0 0 0 1
IRX4 0 0 1 0 0 0 1
ITGA2 0 0 1 0 0 0 1
ITGB2 0 1 0 0 0 0 1
ITPA 0 0 1 0 0 0 1
IVD 0 0 1 0 0 0 1
JAM3 0 1 0 0 0 0 1
KANK1 0 0 0 0 1 0 1
KAT6A 0 1 0 0 0 0 1
KCNB1 0 1 0 0 0 0 1
KCNE1 0 0 1 0 0 0 1
KCNE2, LOC105372791 0 0 1 0 0 0 1
KCNE3, LIPT2 0 0 1 0 0 0 1
KCNJ11 0 1 0 0 0 0 1
KCNJ5 0 0 1 0 0 0 1
KCNK4, KCNK4-CATSPERZ 0 0 1 0 0 0 1
KCNK4, KCNK4-TEX40 0 0 1 0 0 0 1
KCNQ5, KCNQ5-DT, LOC129996711 0 0 1 0 0 0 1
KDM1A 0 0 1 0 0 0 1
KDM6A 0 0 1 0 0 0 1
KIF22 0 1 0 0 0 0 1
KIF2A 0 0 1 0 0 0 1
KIF4A 0 0 1 0 0 0 1
KIF5C 0 0 1 0 0 0 1
KIF7, LOC126862216 0 0 1 0 0 0 1
KISS1R 0 1 0 0 0 0 1
KIT 0 0 1 0 0 0 1
KLF1 0 0 1 0 0 0 1
KLF11 0 0 1 0 0 0 1
KLHL24 1 0 0 0 0 0 1
KLHL41 0 0 0 0 1 0 1
KMT2D, LOC126861520 0 0 1 0 0 0 1
KRAS 0 0 1 0 0 0 1
KRT1 0 0 1 0 0 0 1
KRT14 1 0 0 0 0 0 1
KRT17 1 0 0 0 0 0 1
KRT5 1 0 0 0 0 0 1
KRT5, LOC126861525 0 0 1 0 0 0 1
KRT6A 0 0 1 0 0 0 1
KRT83 0 0 1 0 0 0 1
KRT9 0 1 0 0 0 0 1
L1CAM 1 0 0 0 0 0 1
L2HGDH 1 0 0 0 0 0 1
LAMP2 0 0 1 0 0 0 1
LARP7, MIR302CHG 1 0 0 0 0 0 1
LARS2 1 0 0 0 0 0 1
LCA5 0 0 1 0 0 0 1
LEMD3 1 0 0 0 0 0 1
LEPR 0 0 1 0 0 0 1
LETM1 0 0 1 0 0 0 1
LHCGR, STON1-GTF2A1L 0 0 1 0 0 0 1
LHX4 0 0 1 0 0 0 1
LIFR 0 0 1 0 0 0 1
LIPA 0 0 1 0 0 0 1
LIPC 0 0 1 0 0 0 1
LITAF 0 0 1 0 0 0 1
LMBR1, MNX1, NOM1 0 0 1 0 0 0 1
LMBR1, RNF32 0 0 1 0 0 0 1
LMNB1 0 0 1 0 0 0 1
LOC100507346, PTCH1 1 0 0 0 0 0 1
LOC101927055, TTN 0 0 0 1 0 0 1
LOC107303339, VHL 1 0 0 0 0 0 1
LOC107986211, PCGF3 0 0 1 0 0 0 1
LOC108281134, SOX3 0 0 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 0 0 1 0 0 0 1
LOC110121269, SCN5A 0 0 1 0 0 0 1
LOC110121288, SCN10A 0 0 1 0 0 0 1
LOC114803470, SCN8A 0 0 1 0 0 0 1
LOC122152296, USH2A 0 0 1 0 0 0 1
LOC125446261, MLC1 0 1 0 0 0 0 1
LOC126806420, TTN 0 0 0 1 0 0 1
LOC126806421, TTN 0 0 1 0 0 0 1
LOC126806431, TTN 0 0 1 0 0 0 1
LOC126806432, TTN 0 0 1 0 0 0 1
LOC126806913, OPA1 0 0 1 0 0 0 1
LOC126859827, TAB2 0 1 0 0 0 0 1
LOC126861242, NDUFV1 0 0 1 0 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 0 1 0 0 0 1
LOC126861896, MYH6 0 0 1 0 0 0 1
LOC126862494, MYH8, MYHAS 0 0 0 0 1 0 1
LOC126863090, PRPF6 0 0 1 0 0 0 1
LOC126863207, MID1 0 0 1 0 0 0 1
LOC127814297, POU4F3 0 0 1 0 0 0 1
LOC129389144, PLOD2 0 1 0 0 0 0 1
LOC129391106, RYR1 0 0 1 0 0 0 1
LOC129931648, NTRK1 1 0 0 0 0 0 1
LOC129935184, TTN 0 0 1 0 0 0 1
LOC129935594, PNKD 1 0 0 0 0 0 1
LOC129936736, QARS1 0 0 0 0 1 0 1
LOC129992137, MSX1 0 0 0 1 0 0 1
LOC129999660, PRKAG2 0 0 1 0 0 0 1
LOC130009585, UFM1 1 0 0 0 0 0 1
LOC130055403, TINF2 0 0 0 0 1 0 1
LOC130056973, SPG11 1 0 0 0 0 0 1
LOC130057352, SMAD3 0 1 0 0 0 0 1
LOC130059818, SPG7 0 0 1 0 0 0 1
LOC130064357, RYR1 0 0 1 0 0 0 1
LOC130067574, TNFRSF13C 0 0 1 0 0 0 1
LOC130067862, SCO2, TYMP 1 0 0 0 0 0 1
LOC130068854, MECP2 0 0 0 0 1 0 1
LOX, SRFBP1 0 0 1 0 0 0 1
LPL 1 0 0 0 0 0 1
LRBA, MAB21L2 0 0 1 0 0 0 1
LRP2 0 1 0 0 0 0 1
LRPPRC 0 0 0 0 1 0 1
LRRC38, PDPN 0 0 1 0 0 0 1
LURAP1L, TYRP1 0 1 0 0 0 0 1
MAGEC1, MAGEC3 0 0 1 0 0 0 1
MAGT1 0 0 1 0 0 0 1
MAN1B1 0 0 0 0 1 0 1
MAN2B1 0 1 0 0 0 0 1
MAP2K1 1 0 0 0 0 0 1
MAP3K1 0 0 1 0 0 0 1
MAPT 1 0 0 0 0 0 1
MARS1 0 0 1 0 0 0 1
MAST1 0 0 1 0 0 0 1
MAST3 0 0 1 0 0 0 1
MATN3 0 1 0 0 0 0 1
MATN3, WDR35-DT 0 0 1 0 0 0 1
MCCC1 0 0 1 0 0 0 1
MCM4 0 1 0 0 0 0 1
MCPH1 0 1 0 0 0 0 1
MCUB 0 0 1 0 0 0 1
MED13 0 0 1 0 0 0 1
MED17 0 1 0 0 0 0 1
MEF2C 1 0 0 0 0 0 1
MEGF10 0 0 0 0 1 0 1
MEGF8 0 1 0 0 0 0 1
MEIS1 0 0 1 0 0 0 1
MIPEP 0 0 1 0 0 0 1
MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 1
MLC1 0 1 0 0 0 0 1
MMP13 0 0 0 0 1 0 1
MOCS2 0 1 0 0 0 0 1
MOG 0 0 0 0 1 0 1
MPDU1 0 1 0 0 0 0 1
MPO 0 0 1 0 0 0 1
MRNIP, SQSTM1 0 0 1 0 0 0 1
MRPS22 1 0 0 0 0 0 1
MSC, TRPA1 0 0 1 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 0 1
MT-ATP8 0 0 1 0 0 0 1
MT-CO2 0 0 1 0 0 0 1
MT-CYB 0 0 1 0 0 0 1
MT-RNR2 0 0 1 0 0 0 1
MT-TE 0 0 1 0 0 0 1
MT-TS2 0 0 1 0 0 0 1
MT-TT 0 0 1 0 0 0 1
MT-TV 0 0 1 0 0 0 1
MT-TY 0 0 1 0 0 0 1
MTCL2 0 0 1 0 0 0 1
MTRFR 0 0 1 0 0 0 1
MVK 0 1 0 0 0 0 1
MYBPC1 0 1 0 0 0 0 1
MYCBP2 0 0 1 0 0 0 1
MYCN 0 0 1 0 0 0 1
MYF6 0 0 1 0 0 0 1
MYH13 0 0 1 0 0 0 1
MYL2 0 1 0 0 0 0 1
MYLK 0 0 1 0 0 0 1
MYLK2 0 0 1 0 0 0 1
MYOC 0 1 0 0 0 0 1
MYT1L 0 0 1 0 0 0 1
NAGA 0 1 0 0 0 0 1
NAGS 1 0 0 0 0 0 1
NDE1 1 0 0 0 0 0 1
NDRG1 0 0 1 0 0 0 1
NDUFAF5 0 0 0 0 1 0 1
NDUFS1 0 0 1 0 0 0 1
NEDD4L 0 0 1 0 0 0 1
NEMF 0 1 0 0 0 0 1
NFIA 0 1 0 0 0 0 1
NFIB 0 0 1 0 0 0 1
NHS 0 0 1 0 0 0 1
NIPA1 1 0 0 0 0 0 1
NKX2-1, SFTA3 0 0 1 0 0 0 1
NKX2-5 1 0 0 0 0 0 1
NLGN3 0 0 0 0 1 0 1
NMNAT1 0 0 0 1 0 0 1
NOD2 0 0 1 0 0 0 1
NONO 1 0 0 0 0 0 1
NOP56 0 0 1 0 0 0 1
NOS3 0 0 1 0 0 0 1
NOTCH2 0 0 1 0 0 0 1
NPHP1 0 0 1 0 0 0 1
NPHP4 1 0 0 0 0 0 1
NPRL2 0 1 0 0 0 0 1
NR4A2 0 0 1 0 0 0 1
NR5A1 0 1 0 0 0 0 1
NRL 0 0 1 0 0 0 1
NRXN2 0 0 1 0 0 0 1
NSMF 0 0 1 0 0 0 1
NTHL1 0 0 1 0 0 0 1
NTNG1 0 0 1 0 0 0 1
NUBPL 0 0 1 0 0 0 1
NYX 0 1 0 0 0 0 1
OAT 0 1 0 0 0 0 1
OFD1 0 0 1 0 0 0 1
OFD1, TRAPPC2 0 0 1 0 0 0 1
OGT 0 0 1 0 0 0 1
OPA3 0 0 1 0 0 0 1
OPHN1 0 1 0 0 0 0 1
OPN1MW2 0 0 1 0 0 0 1
OTX2 0 1 0 0 0 0 1
P2RX2 0 0 1 0 0 0 1
P4HB 0 0 1 0 0 0 1
PACS1 1 0 0 0 0 0 1
PAPSS2 1 0 0 0 0 0 1
PCK1 0 1 0 0 0 0 1
PCNT 0 1 0 0 0 0 1
PDE4D 0 0 1 0 0 0 1
PDE6H 0 0 1 0 0 0 1
PDGFB 0 0 1 0 0 0 1
PDGFRA 0 0 1 0 0 0 1
PDK3 0 0 1 0 0 0 1
PDZD7 0 0 1 0 0 0 1
PEX1 1 0 0 0 0 0 1
PEX10 0 0 1 0 0 0 1
PEX12 0 0 1 0 0 0 1
PEX2 1 0 0 0 0 0 1
PEX26 1 0 0 0 0 0 1
PEX5 0 0 1 0 0 0 1
PFN1 0 1 0 0 0 0 1
PGAP2 0 0 1 0 0 0 1
PGM1 0 0 1 0 0 0 1
PHEX 1 0 0 0 0 0 1
PHEX, PTCHD1 1 0 0 0 0 0 1
PHIP 0 0 1 0 0 0 1
PHKB 1 0 0 0 0 0 1
PHOX2B 0 0 1 0 0 0 1
PI4KA, SERPIND1 0 0 1 0 0 0 1
PIEZO1 0 0 0 0 1 0 1
PIGO 0 1 0 0 0 0 1
PIGQ 1 0 0 0 0 0 1
PIK3CD 0 0 1 0 0 0 1
PINK1 0 0 1 0 0 0 1
PITPNM3 0 0 1 0 0 0 1
PITX1 0 0 1 0 0 0 1
PLCB4 0 0 1 0 0 0 1
PLCG2 0 0 1 0 0 0 1
PLG 0 0 1 0 0 0 1
PNKD 0 0 1 0 0 0 1
PNKP 0 1 0 0 0 0 1
PNP 0 0 1 0 0 0 1
PNPLA2 0 0 1 0 0 0 1
PNPLA4, PUDP, STS, VCX 1 0 0 0 0 0 1
PNPO 1 0 0 0 0 0 1
POF1B 0 0 1 0 0 0 1
POLR1C 1 0 0 0 0 0 1
POLR2F, SOX10 0 0 1 0 0 0 1
PPARG 0 1 0 0 0 0 1
PPARGC1A 0 0 1 0 0 0 1
PPM1E, TRIM37 0 1 0 0 0 0 1
PPP1R3A 0 0 1 0 0 0 1
PPP2R1A 0 0 1 0 0 0 1
PPP3CA 0 1 0 0 0 0 1
PRF1 0 0 1 0 0 0 1
PRICKLE1 0 0 1 0 0 0 1
PRKCE 0 0 1 0 0 0 1
PRKCG 0 0 1 0 0 0 1
PRKD1 0 0 1 0 0 0 1
PRKRA 0 0 0 0 1 0 1
PROK2 1 0 0 0 0 0 1
PROKR2 0 0 1 0 0 0 1
PROP1 1 0 0 0 0 0 1
PRPF31 0 1 0 0 0 0 1
PRPS1 0 1 0 0 0 0 1
PRSS1, TRB 0 0 1 0 0 0 1
PRSS56 0 1 0 0 0 0 1
PSMD6 0 0 1 0 0 0 1
PSTPIP1 1 0 0 0 0 0 1
PTCH2 0 0 1 0 0 0 1
PTDSS1 0 0 1 0 0 0 1
PTPRQ 1 0 0 0 0 0 1
PUF60 0 0 0 0 1 0 1
PURA 0 0 1 0 0 0 1
PYGL 0 1 0 0 0 0 1
RAD51D, RAD51L3-RFFL 0 0 1 0 0 0 1
RANBP2 0 0 1 0 0 0 1
RARS1 0 1 0 0 0 0 1
RARS2 1 0 0 0 0 0 1
RASA2 0 0 1 0 0 0 1
RAX2 0 0 1 0 0 0 1
RBCK1 0 1 0 0 0 0 1
RBP3 0 0 1 0 0 0 1
REN 0 0 1 0 0 0 1
RFC1 1 0 0 0 0 0 1
RFT1 0 1 0 0 0 0 1
RIT1 0 1 0 0 0 0 1
RNF135 0 0 1 0 0 0 1
RNF170 0 0 1 0 0 0 1
ROBO2 0 0 1 0 0 0 1
RORC 0 0 1 0 0 0 1
RP1 0 0 1 0 0 0 1
RP2 0 1 0 0 0 0 1
RPL10 0 0 1 0 0 0 1
RPS26 1 0 0 0 0 0 1
RPS29 0 1 0 0 0 0 1
RUNX1 0 0 0 0 1 0 1
RUSC2 0 1 0 0 0 0 1
RXYLT1 1 0 0 0 0 0 1
SAG 0 0 1 0 0 0 1
SALL1 0 0 1 0 0 0 1
SALL4 0 0 1 0 0 0 1
SAMD9L 0 0 1 0 0 0 1
SBF1 0 1 0 0 0 0 1
SBF2 0 1 0 0 0 0 1
SCN3A 0 1 0 0 0 0 1
SCP2 0 0 1 0 0 0 1
SDCCAG8 0 1 0 0 0 0 1
SEC23A 0 1 0 0 0 0 1
SEC63 0 0 1 0 0 0 1
SEMA3E 0 0 1 0 0 0 1
SEMA4D 0 0 1 0 0 0 1
SEPSECS 0 1 0 0 0 0 1
SEPTIN9 0 0 1 0 0 0 1
SET 0 0 1 0 0 0 1
SETD5 0 0 1 0 0 0 1
SF3B4 1 0 0 0 0 0 1
SGSH 1 1 0 0 0 0 1
SH3BP4 0 0 1 0 0 0 1
SH3TC2 0 0 1 0 0 0 1
SHANK1 0 0 1 0 0 0 1
SHOC2 1 0 0 0 0 0 1
SIK1 0 0 1 0 0 0 1
SIM1 0 0 1 0 0 0 1
SIN3A 0 1 0 0 0 0 1
SIX3 0 0 1 0 0 0 1
SKIC3 0 1 0 0 0 0 1
SLC12A1 0 0 1 0 0 0 1
SLC12A5 0 0 1 0 0 0 1
SLC12A6 0 1 0 0 0 0 1
SLC16A12 0 0 1 0 0 0 1
SLC16A2 0 1 0 0 0 0 1
SLC17A5 1 0 0 0 0 0 1
SLC19A3 1 0 0 0 0 0 1
SLC1A1 0 0 1 0 0 0 1
SLC25A1 0 1 0 0 0 0 1
SLC25A12 0 0 0 0 1 0 1
SLC25A3 0 0 1 0 0 0 1
SLC26A3 1 0 0 0 0 0 1
SLC33A1 0 0 0 0 1 0 1
SLC34A3 0 0 1 0 0 0 1
SLC35A3 0 0 1 0 0 0 1
SLC39A13 0 0 1 0 0 0 1
SLC4A1 0 1 0 0 0 0 1
SLC52A3 0 0 1 0 0 0 1
SLC6A19 0 0 1 0 0 0 1
SLC6A3 0 1 0 0 0 0 1
SLC7A9 0 1 0 0 0 0 1
SLCO2A1 0 1 0 0 0 0 1
SLX4 0 0 1 0 0 0 1
SMAD4 0 0 1 0 0 0 1
SMARCE1 0 0 1 0 0 0 1
SMC3 0 0 1 0 0 0 1
SMS 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1
SNX14 0 1 0 0 0 0 1
SON 0 0 1 0 0 0 1
SOS2 1 0 0 0 0 0 1
SOX4 0 0 1 0 0 0 1
SOX9 0 0 1 0 0 0 1
SP3 0 0 1 0 0 0 1
SPATA7 0 0 1 0 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 0 0 0 1
SPG21 0 0 1 0 0 0 1
SPIN2A, SPIN2B, SPIN3, UBQLN2 0 0 1 0 0 0 1
SPRED1 1 0 0 0 0 0 1
SPTB 1 0 0 0 0 0 1
SPTLC2 0 0 1 0 0 0 1
SRCAP 0 0 1 0 0 0 1
SRGAP1 0 0 1 0 0 0 1
SRGAP3 0 0 1 0 0 0 1
STAG3 0 1 0 0 0 0 1
STAT1 0 0 1 0 0 0 1
STING1 1 0 0 0 0 0 1
STRIP1 0 0 1 0 0 0 1
STS 0 0 1 0 0 0 1
STX1B 0 0 1 0 0 0 1
SUFU 0 0 1 0 0 0 1
SUMF1 0 1 0 0 0 0 1
SUOX 0 1 0 0 0 0 1
SYN3, TIMP3 0 0 1 0 0 0 1
TACO1 0 1 0 0 0 0 1
TACR3 0 0 0 0 1 0 1
TAF6 0 1 0 0 0 0 1
TALDO1 0 0 1 0 0 0 1
TBC1D23 1 0 0 0 0 0 1
TBCE 0 1 0 0 0 0 1
TBCK 0 1 0 0 0 0 1
TBR1 0 0 1 0 0 0 1
TBX20 0 0 1 0 0 0 1
TBX22 0 0 1 0 0 0 1
TBX3 0 0 1 0 0 0 1
TCF12 1 0 0 0 0 0 1
TCF20 0 0 1 0 0 0 1
TCTN2 0 1 0 0 0 0 1
TCTN3 0 1 0 0 0 0 1
TFAP2B 0 0 1 0 0 0 1
TGFB2 0 0 0 1 0 0 1
TGM6 0 0 1 0 0 0 1
THOC2 0 0 1 0 0 0 1
THPO 0 0 1 0 0 0 1
TMEM126B 0 1 0 0 0 0 1
TMEM38B 0 0 1 0 0 0 1
TMPRSS3 1 0 0 0 0 0 1
TNFRSF13B 1 0 0 0 0 0 1
TNFRSF1A 0 0 1 0 0 0 1
TNNI2 1 0 0 0 0 0 1
TNNI3 0 0 1 0 0 0 1
TOE1 0 1 0 0 0 0 1
TP63 0 0 1 0 0 0 1
TPK1 1 0 0 0 0 0 1
TPM3 0 0 1 0 0 0 1
TPP2 0 0 1 0 0 0 1
TRHR 0 0 1 0 0 0 1
TRIOBP 0 1 0 0 0 0 1
TRNT1 0 1 0 0 0 0 1
TRPM1 1 0 0 0 0 0 1
TRPV3 0 1 0 0 0 0 1
TSHZ1 0 0 1 0 0 0 1
TTC7A 0 1 0 0 0 0 1
TTLL5 0 0 0 0 1 0 1
TTPA 1 0 0 0 0 0 1
TUBA1A 0 1 0 0 0 0 1
TUBB2A 0 0 1 0 0 0 1
TUBB4B 0 0 1 0 0 0 1
TUBGCP5 0 0 1 0 0 0 1
TUSC3 1 0 0 0 0 0 1
TYROBP 0 0 1 0 0 0 1
TYRP1 0 1 0 0 0 0 1
UBE3B 0 0 1 0 0 0 1
UMOD 0 1 0 0 0 0 1
UPF3B 0 0 1 0 0 0 1
USH1C 0 0 1 0 0 0 1
USP27X 0 0 1 0 0 0 1
UVSSA 0 0 0 0 1 0 1
VIM 0 0 1 0 0 0 1
WARS1 1 0 0 0 0 0 1
WDR11 0 0 1 0 0 0 1
WDR62 0 0 1 0 0 0 1
WDR81 0 0 1 0 0 0 1
WNK1 0 0 1 0 0 0 1
WNT5A 0 1 0 0 0 0 1
XAB2 0 0 1 0 0 0 1
XIAP 1 0 0 0 0 0 1
XIRP2 0 0 1 0 0 0 1
YAP1 0 0 1 0 0 0 1
YARS1 0 0 1 0 0 0 1
YWHAZ 1 0 0 0 0 0 1
YY1 0 0 1 0 0 0 1
ZEB1 1 0 0 0 0 0 1
ZGRF1 0 0 1 0 0 0 1
ZNF408 0 1 0 0 0 0 1
ZNF513 0 1 0 0 0 0 1
ZNF536 0 0 1 0 0 0 1
ZNF592 0 0 1 0 0 0 1
ZNF711 0 0 1 0 0 0 1
ZSWIM6 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 1978
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
See cases 9 10 95 2 5 0 121
Familial cancer of breast 34 9 26 3 4 0 76
Congenital myopathy with fiber type disproportion 2 12 32 0 0 0 46
Age related macular degeneration 2 17 8 15 0 0 0 40
not provided 4 2 26 0 5 0 37
Neurofibromatosis, type 1 20 4 10 0 2 0 36
Tibial muscular dystrophy 3 3 16 6 1 0 29
Polycystic kidney disease, adult type 9 2 15 1 0 0 27
Usher syndrome type 2A 8 5 11 1 0 0 25
Lymphangiomyomatosis 12 1 8 1 1 0 23
Breast-ovarian cancer, familial, susceptibility to, 2 9 2 7 1 0 0 19
Migraine, familial hemiplegic, 3 8 8 2 1 0 0 19
Progeroid and marfanoid aspect-lipodystrophy syndrome 9 2 8 0 0 0 19
Myopathy 6 7 5 0 0 0 18
Dilated cardiomyopathy 3B 8 2 6 1 0 0 17
Ehlers-Danlos syndrome, classic type, 2 1 1 14 1 0 0 17
Joubert syndrome 5 12 1 4 0 0 0 17
Osteogenesis imperfecta with normal sclerae, dominant form 5 5 7 0 0 0 17
Neuropathy, hereditary sensory and autonomic, type 2A 1 0 14 0 1 0 16
CHARGE association 3 0 11 0 1 0 15
Coffin-Siris syndrome 1 5 0 9 1 0 0 15
Hearing impairment 5 4 5 0 0 0 14
Familial meningioma 4 2 7 0 0 0 13
Kabuki syndrome 1 3 2 5 2 1 0 13
Autosomal dominant nonsyndromic hearing loss 11 1 1 9 0 1 0 12
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2 2 8 0 0 0 12
Hypertrophic cardiomyopathy 26 1 2 9 0 0 0 12
Hypertrophic cardiomyopathy 4 5 0 7 0 0 0 12
Prader-Willi syndrome 1 1 9 0 1 0 12
Rubinstein-Taybi syndrome due to CREBBP mutations 1 1 9 1 0 0 12
Congenital myotonia, autosomal recessive form 4 3 4 0 0 0 11
Familial temporal lobe epilepsy 7 0 1 10 0 0 0 11
Hypertrophic cardiomyopathy 2 3 6 0 0 0 11
Pigmentary retinal dystrophy 4 6 1 0 0 0 11
Breast-ovarian cancer, familial, susceptibility to, 1 10 0 0 0 0 0 10
Epidermolysis bullosa pruriginosa 6 1 3 0 0 0 10
Migraine, familial hemiplegic, 1 0 2 7 1 0 0 10
Mismatch repair cancer syndrome 1 3 0 5 0 2 0 10
Wilson disease 4 2 4 0 0 0 10
Achondrogenesis type II 2 3 4 0 0 0 9
Autosomal recessive ataxia, Beauce type 1 2 6 0 0 0 9
Basal cell carcinoma, susceptibility to, 1 2 1 6 0 0 0 9
Breast carcinoma 1 0 7 1 0 0 9
Catecholaminergic polymorphic ventricular tachycardia 1 1 1 7 0 0 0 9
Charcot-Marie-Tooth disease axonal type 2O 0 1 7 0 1 0 9
Dilated cardiomyopathy 1A 3 0 6 0 0 0 9
Gaucher disease perinatal lethal 5 1 3 0 0 0 9
Hereditary spastic paraplegia 11 2 3 4 0 0 0 9
KBG syndrome 1 3 3 2 0 0 9
LEOPARD syndrome 1 5 0 2 0 2 0 9
Pigmented paravenous retinochoroidal atrophy 3 2 4 0 0 0 9
Polycystic kidney disease 2 5 0 4 0 0 0 9
X-linked Alport syndrome 2 5 2 0 0 0 9
Autism, susceptibility to, X-linked 3 4 2 1 0 1 0 8
Charcot-Marie-Tooth disease axonal type 2C 2 1 5 0 0 0 8
Congenital sensorineural hearing impairment 2 3 3 0 0 0 8
Cornelia de Lange syndrome 1 3 1 4 0 0 0 8
Developmental and epileptic encephalopathy, 7 0 1 7 0 0 0 8
Fibromatosis, gingival, 1 0 1 7 0 0 0 8
Keratosis palmoplantaris striata 2 0 2 6 0 0 0 8
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 0 8 0 0 0 8
Pitt-Hopkins syndrome 3 0 4 1 0 0 8
Roussy-Lévy syndrome 1 4 3 0 0 0 8
Sick sinus syndrome 1 2 1 5 0 0 0 8
Sotos syndrome 3 1 4 0 0 0 8
Tetralogy of Fallot 2 0 6 0 0 0 8
Usher syndrome type 1D 2 0 6 0 0 0 8
Abortive cerebellar ataxia 0 2 4 1 0 0 7
Arrhythmogenic right ventricular dysplasia 10 0 3 4 0 0 0 7
Arrhythmogenic right ventricular dysplasia 9 2 1 2 2 0 0 7
Autosomal dominant Parkinson disease 8 0 0 7 0 0 0 7
Brain small vessel disease 1 with or without ocular anomalies 0 0 4 1 2 0 7
Cardiac valvular dysplasia, X-linked 1 2 4 0 0 0 7
Choroidal dystrophy, central areolar, 1 0 2 5 0 0 0 7
Developmental and epileptic encephalopathy, 5 0 1 6 0 0 0 7
Dystonia 12 2 1 4 0 0 0 7
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 5 1 1 0 7
Fanconi anemia complementation group J 0 0 7 0 0 0 7
Global developmental delay 3 1 3 0 0 0 7
Hereditary spastic paraplegia 4 2 0 4 0 1 0 7
Hyperkalemic periodic paralysis 3 2 2 0 0 0 7
Intellectual disability, autosomal dominant 45 0 0 6 1 0 0 7
Lynch syndrome 4 3 3 1 0 0 0 7
Polycystic kidney disease 7 0 0 0 0 0 7
Pseudohypoparathyroidism type 1B 3 0 3 1 0 0 7
RHYNS syndrome 2 1 4 0 0 0 7
Retinitis pigmentosa 0 1 6 0 0 0 7
Retinitis pigmentosa 40 0 1 6 0 0 0 7
Seizure 0 0 7 0 0 0 7
Spinocerebellar ataxia type 5 0 0 7 0 0 0 7
Type 2 diabetes mellitus 1 0 5 1 0 0 7
Tyrosinase-negative oculocutaneous albinism 3 2 2 0 0 0 7
Ullrich congenital muscular dystrophy 1 0 0 7 0 0 0 7
Yunis-Varon syndrome 2 0 5 0 0 0 7
Adult hypophosphatasia 1 4 1 0 0 0 6
Arterial calcification, generalized, of infancy, 2 2 3 1 0 0 0 6
Atelosteogenesis type III 0 1 5 0 0 0 6
Autism spectrum disorder due to AUTS2 deficiency 1 0 5 0 0 0 6
Autosomal dominant Alport syndrome 1 2 3 0 0 0 6
Autosomal dominant centronuclear myopathy 1 0 5 0 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 6 0 0 0 6
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 3 1 1 0 6
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 4 2 0 0 6
Cerebral cavernous malformation 3 0 3 0 0 0 6
Cone-rod dystrophy 15 2 1 3 0 0 0 6
Endometrial carcinoma 1 0 4 1 0 0 6
Epileptic encephalopathy 0 4 2 0 0 0 6
Galactosylceramide beta-galactosidase deficiency 1 3 2 0 0 0 6
Gnathodiaphyseal dysplasia 2 2 2 0 0 0 6
Hereditary motor and sensory neuropathy with optic atrophy 2 1 3 0 0 0 6
Hereditary pancreatitis 5 0 1 0 0 0 6
Intellectual disability, autosomal dominant 5 1 1 4 0 0 0 6
Kleefstra syndrome 1 0 2 2 2 0 0 6
Macular degeneration, early-onset 0 2 4 0 0 0 6
Marshall syndrome 1 0 5 0 0 0 6
Metachromatic leukodystrophy 6 0 0 0 0 0 6
Muscular dystrophy, limb-girdle, autosomal dominant 4 2 1 3 0 0 0 6
Phenylketonuria 5 1 0 0 0 0 6
Porencephaly 2 0 0 5 0 1 0 6
Pyruvate dehydrogenase E1-alpha deficiency 1 2 3 0 0 0 6
Retinitis pigmentosa 88 1 1 4 0 0 0 6
Spinocerebellar ataxia 43 3 0 3 0 0 0 6
Achromatopsia 3 4 0 1 0 0 0 5
Acute intermittent porphyria 4 0 1 0 0 0 5
Adrenoleukodystrophy 2 1 2 0 0 0 5
Aortic valve disease 1 0 0 5 0 0 0 5
Arthrogryposis, distal, type 2B3 0 1 4 0 0 0 5
Arthrogryposis, distal, with impaired proprioception and touch 0 0 5 0 0 0 5
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 0 4 0 1 0 5
Autosomal dominant nonsyndromic hearing loss 3A 5 0 0 0 0 0 5
Autosomal recessive DOPA responsive dystonia 2 0 3 0 0 0 5
Bartter disease type 3 1 1 2 0 1 0 5
Basal ganglia calcification, idiopathic, 4 1 0 3 0 1 0 5
CBL-related disorder 0 0 5 0 0 0 5
Carcinoma of pancreas 1 0 4 0 0 0 5
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 1 3 0 0 0 5
Cardiofaciocutaneous syndrome 1 1 0 4 0 0 0 5
Cataract; Microcephaly; Severe global developmental delay 0 0 5 0 0 0 5
Colorectal cancer 1 0 4 0 0 0 5
Cutis laxa, X-linked 0 1 4 0 0 0 5
Developmental and epileptic encephalopathy 94 0 0 4 1 0 0 5
Developmental and epileptic encephalopathy, 28 0 2 3 0 0 0 5
Elevated circulating creatine kinase concentration; Myalgia; Exercise-induced myalgia 1 0 4 0 0 0 5
Finnish congenital nephrotic syndrome 2 2 1 0 0 0 5
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 0 5 0 0 0 5
Hereditary cancer 0 0 5 0 0 0 5
Infantile convulsions and choreoathetosis 1 0 4 0 0 0 5
Intellectual developmental disorder with autism and macrocephaly 1 0 4 0 0 0 5
Intellectual disability, X-linked 1 0 1 2 1 1 0 5
Intellectual disability, autosomal dominant 43 0 0 5 0 0 0 5
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 5 0 0 0 5
Joubert syndrome 7 0 3 2 0 0 0 5
Joubert syndrome 9 2 0 3 0 0 0 5
Landau-Kleffner syndrome 0 0 5 0 0 0 5
Leber congenital amaurosis 11 0 1 4 0 0 0 5
Leigh syndrome 3 0 2 0 0 0 5
Lethal Kniest-like syndrome 0 1 3 0 1 0 5
Leukodystrophy 1 2 2 0 0 0 5
Lissencephaly 9 with complex brainstem malformation 0 0 5 0 0 0 5
Lynch syndrome 5 4 1 0 0 0 0 5
Multiple endocrine neoplasia, type 2b 2 0 3 0 0 0 5
Naxos disease 0 0 5 0 0 0 5
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 5 0 0 0 5
Niemann-Pick disease, type C1 2 2 0 0 1 0 5
Non-ketotic hyperglycinemia 0 3 2 0 0 0 5
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 0 2 3 0 0 0 5
Primary ciliary dyskinesia 15 0 3 2 0 0 0 5
Retinitis pigmentosa 13 0 0 5 0 0 0 5
Retinitis pigmentosa 3 2 1 2 0 0 0 5
Retinoblastoma 4 1 0 0 0 0 5
Rhabdoid tumor predisposition syndrome 2 0 0 5 0 0 0 5
Short QT syndrome type 1 1 0 4 0 0 0 5
Smith-Magenis syndrome 0 0 2 1 2 0 5
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 5 0 0 0 5
Vitelliform macular dystrophy 2 0 2 3 0 0 0 5
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 1 1 2 0 0 0 4
Arrhythmogenic right ventricular dysplasia 11 0 0 3 1 0 0 4
Atrial fibrillation, familial, 7 0 0 4 0 0 0 4
Autosomal dominant Robinow syndrome 1 0 2 2 0 0 0 4
Autosomal dominant nonsyndromic hearing loss 12 1 1 2 0 0 0 4
Autosomal dominant nonsyndromic hearing loss 65 1 0 3 0 0 0 4
Autosomal recessive multiple pterygium syndrome 3 0 1 0 0 0 4
Bethlem myopathy 2 0 0 4 0 0 0 4
Bosch-Boonstra-Schaaf optic atrophy syndrome 2 2 0 0 0 0 4
CHIME syndrome 0 0 4 0 0 0 4
Cafe au lait spots, multiple 2 2 0 0 0 0 4
Cardiac arrhythmia, ankyrin-B-related 0 0 4 0 0 0 4
Cerebrooculofacioskeletal syndrome 1 1 1 2 0 0 0 4
Charcot-Marie-Tooth disease type 1F 2 0 2 0 0 0 4
Charcot-Marie-Tooth disease type 4F 0 1 3 0 0 0 4
Chromosome 2q32-q33 deletion syndrome 0 2 2 0 0 0 4
Clark-Baraitser syndrome 1 0 3 0 0 0 4
Classic homocystinuria 4 0 0 0 0 0 4
Combined immunodeficiency due to DOCK8 deficiency 1 0 3 0 0 0 4
Combined oxidative phosphorylation defect type 8 1 2 1 0 0 0 4
Cone-rod dystrophy 7 0 0 4 0 0 0 4
Congenital dyserythropoietic anemia, type II 2 1 1 0 0 0 4
Congenital stationary night blindness 2A 2 0 2 0 0 0 4
Cornelia de Lange syndrome 5 2 0 2 0 0 0 4
Cutis laxa, autosomal dominant 3 0 1 3 0 0 0 4
Deficiency of iodide peroxidase 1 1 2 0 0 0 4
Developmental and epileptic encephalopathy, 13 0 1 2 0 1 0 4
Dilated cardiomyopathy 1D 0 0 4 0 0 0 4
Dilated cardiomyopathy 1KK 0 0 4 0 0 0 4
Dilated cardiomyopathy 1Y 1 0 3 0 0 0 4
Distal arthrogryposis 1 3 0 0 0 0 4
Epilepsy, familial focal, with variable foci 1 0 1 3 0 0 0 4
Epithelial recurrent erosion dystrophy 2 0 2 0 0 0 4
Familial hypobetalipoproteinemia 1 0 1 3 0 0 0 4
Foveal hypoplasia; Albinism; Abnormality of metabolism/homeostasis; Elevated circulating hepatic transaminase concentration; Slow decrease in visual acuity; Choroidal neovascularization 1 2 1 0 0 0 4
Glaucoma, primary closed-angle 1 2 1 0 0 0 4
Global developmental delay; Progressive microcephaly; Neurodegeneration; Central hypoventilation; Brain atrophy 0 0 4 0 0 0 4
Glycogen storage disease, type II 1 3 0 0 0 0 4
Hereditary spastic paraplegia 7 0 1 3 0 0 0 4
Hereditary spherocytosis type 3 1 0 3 0 0 0 4
Holoprosencephaly 11 0 0 4 0 0 0 4
Holoprosencephaly 9 0 0 3 1 0 0 4
Hypogonadotropic hypogonadism 7 with or without anosmia 2 0 2 0 0 0 4
Intellectual disability 2 1 1 0 0 0 4
Intellectual disability, autosomal dominant 29 1 0 3 0 0 0 4
Isolated focal cortical dysplasia type II 0 0 4 0 0 0 4
Joubert syndrome 1 0 1 3 0 0 0 4
Leber congenital amaurosis 15 1 2 1 0 0 0 4
Luscan-Lumish syndrome 0 0 3 0 1 0 4
Lynch syndrome 1 2 0 2 0 0 0 4
Mandibular hypoplasia-deafness-progeroid syndrome 0 0 3 1 0 0 4
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 3 0 0 0 4
Menke-Hennekam syndrome 2 0 0 4 0 0 0 4
Merosin deficient congenital muscular dystrophy 1 2 1 0 0 0 4
Muscle AMP deaminase deficiency 0 2 2 0 0 0 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2 0 1 0 1 0 4
Muscular dystrophy-dystroglycanopathy type B5 1 0 3 0 0 0 4
Neuronal ceroid lipofuscinosis 7 1 2 1 0 0 0 4
Oculofaciocardiodental syndrome 0 0 4 0 0 0 4
Optic atrophy 9 1 0 3 0 0 0 4
Ornithine carbamoyltransferase deficiency 1 0 3 0 0 0 4
PMM2-congenital disorder of glycosylation 3 1 0 0 0 0 4
Palmoplantar blistering; Skin fragility with non-scarring blistering 1 0 3 0 0 0 4
Paragangliomas 4 3 0 1 0 0 0 4
Peroxisome biogenesis disorder 4A (Zellweger) 1 2 1 0 0 0 4
Pitt-Hopkins-like syndrome 2 0 0 3 1 0 0 4
Pituitary adenoma 5, multiple types 0 0 4 0 0 0 4
Polycystic kidney disease 4 0 3 1 0 0 0 4
Primary ciliary dyskinesia 3 1 0 3 0 0 0 4
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 4 0 0 0 4
Progressive myoclonic epilepsy type 7 0 0 4 0 0 0 4
Retinitis pigmentosa 33 0 0 4 0 0 0 4
Retinitis pigmentosa 56 2 0 2 0 0 0 4
Retinitis pigmentosa 60 0 0 4 0 0 0 4
Schwannomatosis 2 1 2 1 0 0 0 4
Seckel syndrome 1 0 1 3 0 0 0 4
Seizure; Severe global developmental delay 1 0 3 0 0 0 4
Singleton-Merten syndrome 1 0 0 4 0 0 0 4
Smith-Lemli-Opitz syndrome 3 0 0 0 1 0 4
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 0 4 0 0 0 4
Tay-Sachs disease 1 2 1 0 0 0 4
Timothy syndrome 0 0 4 0 0 0 4
Vanishing white matter disease 0 2 2 0 0 0 4
Wieacker-Wolff syndrome 2 0 2 0 0 0 4
Williams syndrome 1 0 2 1 0 0 4
Wolff-Parkinson-White pattern 1 0 3 0 0 0 4
X-linked intellectual disability with marfanoid habitus 0 0 2 2 0 0 4
3MC syndrome 1 0 3 0 0 0 0 3
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 1 1 1 0 0 3
Abnormal bleeding; Prolonged bleeding time 1 2 0 0 0 0 3
Abnormal blistering of the skin 2 0 1 0 0 0 3
Abnormality of the eye; Global developmental delay; Motor delay; Cognitive impairment; Brachycephaly; Delayed speech and language development; Intellectual disability, mild; Generalized hypotonia; Neonatal hypotonia 0 1 2 0 0 0 3
Achromatopsia 2 2 1 0 0 0 0 3
Acute febrile neutrophilic dermatosis 2 0 1 0 0 0 3
Aicardi-Goutieres syndrome 6 1 0 2 0 0 0 3
Alexander disease 0 0 3 0 0 0 3
Alpha thalassemia-X-linked intellectual disability syndrome 0 1 2 0 0 0 3
Amelocerebrohypohidrotic syndrome 0 1 1 1 0 0 3
Aneurysm-osteoarthritis syndrome 0 2 1 0 0 0 3
Anonychia 3 0 0 0 0 0 3
Asphyxiating thoracic dystrophy 3 1 1 1 0 0 0 3
Atrioventricular septal defect and common atrioventricular junction 0 2 1 0 0 0 3
Autosomal dominant hypocalcemia 1 0 1 2 0 0 0 3
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 0 3 0 0 0 3
Autosomal dominant nonsyndromic hearing loss 1 0 0 3 0 0 0 3
Autosomal dominant striatal neurodegeneration type 1 0 0 3 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 1 1 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2O 2 0 1 0 0 0 3
Benign familial hematuria 0 1 2 0 0 0 3
Biotinidase deficiency 3 0 0 0 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 3 3 0 0 0 0 0 3
Brittle cornea syndrome 1 0 0 3 0 0 0 3
Brugada syndrome 4 0 0 3 0 0 0 3
CODAS syndrome 0 1 1 1 0 0 3
Cardiac arrhythmia 0 1 2 0 0 0 3
Carney complex - trismus - pseudocamptodactyly syndrome 0 0 2 0 1 0 3
Carnitine palmitoyl transferase 1A deficiency 0 0 3 0 0 0 3
Cataract 3 multiple types 0 0 3 0 0 0 3
Cavernous hemangioma 2 1 0 0 0 0 3
Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation 0 0 3 0 0 0 3
Cervical cancer 2 0 1 0 0 0 3
Chondrosarcoma 2 0 1 0 0 0 3
Citrullinemia type I 2 1 0 0 0 0 3
Coffin-Siris syndrome 8 1 1 1 0 0 0 3
Cohen syndrome 1 0 1 0 1 0 3
Colorectal cancer, hereditary nonpolyposis, type 2 2 1 0 0 0 0 3
Combined oxidative phosphorylation defect type 15 2 0 0 0 1 0 3
Combined oxidative phosphorylation defect type 23 0 0 3 0 0 0 3
Cone-rod dystrophy 12 0 1 1 1 0 0 3
Congenital muscular hypertrophy-cerebral syndrome 1 1 1 0 0 0 3
Congenital myasthenic syndrome 4B 0 1 2 0 0 0 3
DYRK1A-related intellectual disability syndrome 2 1 0 0 0 0 3
Deficiency of acetyl-CoA acetyltransferase 0 2 1 0 0 0 3
Developmental and epileptic encephalopathy, 18 0 0 2 0 1 0 3
Developmental and epileptic encephalopathy, 2 0 0 3 0 0 0 3
Developmental and epileptic encephalopathy, 53 0 0 3 0 0 0 3
Developmental and epileptic encephalopathy, 9 0 0 3 0 0 0 3
Dilated cardiomyopathy 1C 0 0 3 0 0 0 3
Dilated cardiomyopathy 1JJ 0 0 3 0 0 0 3
Distal myopathy with anterior tibial onset 0 1 2 0 0 0 3
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 0 3 0 0 0 3
EMG: myopathic abnormalities; Shoulder girdle muscle weakness 1 0 2 0 0 0 3
Encephalocraniocutaneous lipomatosis 1 0 2 0 0 0 3
Enhanced S-cone syndrome 2 0 1 0 0 0 3
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 0 3 0 0 0 3
Epilepsy, early-onset, with or without developmental delay 0 0 3 0 0 0 3
Episodic pain syndrome, familial, 2 0 0 3 0 0 0 3
Exudative vitreoretinopathy 4 0 0 3 0 0 0 3
Fabry disease 1 1 1 0 0 0 3
Fanconi anemia complementation group O 2 0 1 0 0 0 3
Fumarase deficiency 0 1 2 0 0 0 3
Geleophysic dysplasia 1 0 0 3 0 0 0 3
Global developmental delay; Hyperammonemia 0 0 3 0 0 0 3
Global developmental delay; Jaundice 3 0 0 0 0 0 3
Global developmental delay; Seizure; Atypical behavior; Macrocephaly; Hand tremor 1 0 2 0 0 0 3
Global developmental delay; Seizure; Hypotonia 0 3 0 0 0 0 3
Glucocorticoid deficiency 4 0 1 0 0 2 0 3
Glucocorticoid-remediable aldosteronism 0 1 2 0 0 0 3
Glycogen storage disease, type IV 1 0 0 0 2 0 3
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 1 2 0 0 0 3
Hereditary lymphedema type I 0 1 2 0 0 0 3
Hereditary spastic paraplegia 47 3 0 0 0 0 0 3
Hereditary spastic paraplegia 6 1 0 1 0 1 0 3
Hereditary spherocytosis type 1 0 1 2 0 0 0 3
Holoprosencephaly 5 0 0 3 0 0 0 3
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 1 1 0 0 0 3
Hypertelorism; Bilateral cleft lip and palate; Low-set ears; Premature birth; Wide intermamillary distance; Hypoplasia of scrotum; Postaxial hand polydactyly; Camptodactyly of finger 1 0 2 0 0 0 3
Hypomyelinating leukodystrophy 6 0 1 2 0 0 0 3
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 3 0 0 0 0 0 3
Intellectual disability, X-linked 102 1 1 1 0 0 0 3
Intellectual disability, X-linked, syndromic 33 0 0 3 0 0 0 3
Intellectual disability, autosomal dominant 1 0 1 2 0 0 0 3
Intellectual disability, autosomal dominant 46 0 0 3 0 0 0 3
Intellectual disability, autosomal dominant 6 0 0 3 0 0 0 3
Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 0 1 0 0 0 3
Juvenile retinoschisis 0 2 1 0 0 0 3
Kleefstra syndrome 2 0 0 3 0 0 0 3
Leber congenital amaurosis 13 2 1 0 0 0 0 3
Left ventricular noncompaction 8 0 0 3 0 0 0 3
Lissencephaly due to LIS1 mutation 0 2 1 0 0 0 3
Long QT syndrome 1 2 1 0 0 0 0 3
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 1 2 0 0 0 3
Mandibulofacial dysostosis-microcephaly syndrome 1 0 2 0 0 0 3
Maple syrup urine disease 0 2 1 0 0 0 3
Marshall-Smith syndrome 1 1 1 0 0 0 3
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 3 0 0 0 3
Megalencephalic leukoencephalopathy with subcortical cysts 2A 1 0 2 0 0 0 3
Melanoma 1 0 2 0 0 0 3
Metaphyseal chondrodysplasia, Spahr type 1 0 1 0 1 0 3
Microcephaly 3, primary, autosomal recessive 1 0 2 0 0 0 3
Migraine, familial hemiplegic, 2 0 0 3 0 0 0 3
Mitochondrial DNA depletion syndrome 4b 2 0 0 1 0 0 3
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 1 1 0 1 0 0 3
Multiple endocrine neoplasia, type 1 3 0 0 0 0 0 3
Myoclonus, intractable, neonatal 0 1 1 1 0 0 3
Myopathy, centronuclear, 5 0 0 3 0 0 0 3
Myopia; Soft skin; Poor wound healing; Striae distensae; Joint hypermobility; Gastroesophageal reflux; Thoracic scoliosis; Spontaneous hematomas 0 0 3 0 0 0 3
Myotonia 2 1 0 0 0 0 3
NPHP3-related Meckel-like syndrome 2 0 1 0 0 0 3
Neoplasm of ovary 2 0 1 0 0 0 3
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 0 3 0 0 0 3
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 3 0 0 0 3
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 0 3 0 0 0 3
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0 1 2 0 0 0 3
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 3 0 0 0 3
Nystagmus; Abnormal electroretinogram 1 1 1 0 0 0 3
Ocular albinism 1 2 0 0 0 0 3
Otofaciocervical syndrome 1 0 0 3 0 0 0 3
Parkinsonian disorder 0 0 2 0 0 1 3
Paroxysmal nonkinesigenic dyskinesia 1 0 0 3 0 0 0 3
Pelizaeus-Merzbacher disease 1 1 1 0 0 0 3
Pontocerebellar hypoplasia type 5 1 2 0 0 0 0 3
Primary dilated cardiomyopathy 0 1 2 0 0 0 3
Progressive familial heart block type IB 0 0 3 0 0 0 3
Progressive scapulohumeroperoneal distal myopathy 0 1 2 0 0 0 3
Proteinuria; Hematuria 0 2 1 0 0 0 3
Pyridoxine-dependent epilepsy 2 1 0 0 0 0 3
Rapadilino syndrome 0 2 0 0 1 0 3
Renal hypomagnesemia 6 0 0 3 0 0 0 3
Renpenning syndrome 1 1 1 0 0 0 3
Retinitis pigmentosa 20 1 1 1 0 0 0 3
Retinitis pigmentosa 25 1 0 2 0 0 0 3
Retinitis pigmentosa 26 2 1 0 0 0 0 3
Retinitis pigmentosa 31 0 0 3 0 0 0 3
Retinitis pigmentosa 73 0 1 2 0 0 0 3
Schimke immuno-osseous dysplasia 3 0 0 0 0 0 3
Schizencephaly 1 0 2 0 0 0 3
Seckel syndrome 7 0 1 2 0 0 0 3
Seizure; Epileptic encephalopathy 0 2 1 0 0 0 3
Seizures, benign familial infantile, 3 0 1 2 0 0 0 3
Sensorimotor neuropathy 1 2 0 0 0 0 3
Sensorineural hearing loss disorder 0 1 2 0 0 0 3
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 2 1 0 0 0 3
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 2 0 0 0 3
Short stature 2 1 0 0 0 0 3
Short stature due to partial GHR deficiency 0 0 3 0 0 0 3
Short stature; Failure to thrive; Abnormality of the dentition; Microcephaly; Abnormal dental enamel morphology; Hyperpigmentation of the skin; Alopecia of scalp; Distal muscle weakness; EMG abnormality; Decreased body weight; Scarring alopecia of scalp; Abnormal blistering of the skin; Nail dystrophy; Scarring 3 0 0 0 0 0 3
Short-rib thoracic dysplasia 6 with or without polydactyly 0 1 2 0 0 0 3
Sifrim-Hitz-Weiss syndrome 0 0 3 0 0 0 3
Singleton-Merten syndrome 2 0 0 3 0 0 0 3
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 0 3 0 0 0 3
Sweeney-Cox syndrome 0 0 2 0 1 0 3
Syndromic X-linked intellectual disability Raymond type 0 2 0 0 1 0 3
Telangiectasia, hereditary hemorrhagic, type 2 3 0 0 0 0 0 3
Visual impairment; Retinal dystrophy; Color vision defect; Horizontal nystagmus 1 1 1 0 0 0 3
Wiedemann-Steiner syndrome 0 0 3 0 0 0 3
2-3 toe syndactyly; Small for gestational age; Elevated circulating 7-dehydrocholesterol concentration; Primary microcephaly 1 1 0 0 0 0 2
3M syndrome 3 0 2 0 0 0 0 2
4p partial monosomy syndrome 0 0 2 0 0 0 2
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 0 2 0 0 0 2
Aarskog syndrome 1 0 1 0 0 0 2
Abnormal cardiovascular system morphology 0 0 2 0 0 0 2
Abnormal intrahepatic bile duct morphology 2 0 0 0 0 0 2
Abnormal macular morphology; Peripheral neuropathy 0 0 2 0 0 0 2
Abnormal retinal morphology 0 1 1 0 0 0 2
Abnormality of the skin; Nail dystrophy; Skin erosion 2 0 0 0 0 0 2
Acanthosis nigricans; Obesity; Brachydactyly; Skeletal dysplasia; Insulin resistance; Short stature; Self-injurious behavior; Renal hypoplasia; Abnormal facial shape; Abnormality of the dentition; Hepatic steatosis; Lumbar hyperlordosis; Hyperlipidemia; Short metacarpal; Intellectual disability, severe 2 0 0 0 0 0 2
Acrokeratosis verruciformis of Hopf 0 0 2 0 0 0 2
Acromesomelic dysplasia 1, Maroteaux type 0 0 2 0 0 0 2
Aicardi-Goutieres syndrome 2 0 2 0 0 0 0 2
Albinism; Abnormal retinal morphology; Strabismus; Abnormal optic nerve morphology; Horizontal nystagmus; Hypopigmentation of the skin; Ocular albinism; Fair hair 1 1 0 0 0 0 2
Albinism; Nystagmus; Myopia 2 0 0 0 0 0 2
Alkuraya-Kucinskas syndrome 0 1 1 0 0 0 2
Alzheimer disease 4 1 0 1 0 0 0 2
Alzheimer disease 9 0 0 2 0 0 0 2
Amenorrhea 1 0 1 0 0 0 2
Amyotrophic lateral sclerosis type 2, juvenile 0 2 0 0 0 0 2
Andersen Tawil syndrome 1 0 1 0 0 0 2
Anemia; Splenomegaly 1 0 1 0 0 0 2
Aortic aneurysm, familial thoracic 4 0 1 1 0 0 0 2
Apnea, central sleep; Respiratory insufficiency; Febrile seizure (within the age range of 3 months to 6 years); Pes planus; Lactic acidosis; External ophthalmoplegia; Gastroesophageal reflux; Decreased activity of the pyruvate dehydrogenase complex; Progressive muscle weakness; Progressive ptosis; Aspiration pneumonia 2 0 0 0 0 0 2
Arrhinia with choanal atresia and microphthalmia syndrome 0 0 2 0 0 0 2
Ascending tubular aorta aneurysm; Vascular dilatation 0 0 2 0 0 0 2
Aspartylglucosaminuria 1 0 1 0 0 0 2
Astigmatism; Leukodystrophy; Motor delay; Seizure; Short stature; Hypermetropia; Delayed speech and language development; Open mouth; Microcephaly; Strabismus; Amblyopia; EEG with generalized slow activity; Allergy 0 0 2 0 0 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 2 0 0 0 0 2
Atopic eczema; Ichthyosis 0 0 2 0 0 0 2
Atrial septal defect; Short stature; Feeding difficulties; Hypoglycemia; Growth delay; Congestive heart failure; Macrotia; Macrocephaly; Small for gestational age; Cardiac shunt; Gastroesophageal reflux; Neonatal respiratory distress 0 2 0 0 0 0 2
Autism; Micrognathia; Low-set ears; Delayed speech and language development; Narrow forehead; Wide nasal bridge; Intellectual disability, mild; Delayed fine motor development 2 0 0 0 0 0 2
Autoinflammation with arthritis and dyskeratosis 0 0 2 0 0 0 2
Autosomal dominant Robinow syndrome 3 0 0 2 0 0 0 2
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 0 0 2 0 0 0 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 1 1 0 0 0 2
Autosomal dominant nonsyndromic hearing loss 56 0 0 2 0 0 0 2
Autosomal dominant slowed nerve conduction velocity 0 0 2 0 0 0 2
Autosomal recessive congenital ichthyosis 2 1 1 0 0 0 0 2
Autosomal recessive congenital ichthyosis 4B 0 0 1 0 1 0 2
Autosomal recessive cutis laxa type 2D 0 0 2 0 0 0 2
Autosomal recessive distal spinal muscular atrophy 1 1 1 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2G 0 0 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2T 0 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 7 0 0 2 0 0 0 2
Autosomal recessive osteopetrosis 1 0 2 0 0 0 0 2
Axenfeld-Rieger syndrome type 3 0 1 1 0 0 0 2
Bardet-Biedl syndrome 1 1 0 1 0 0 0 2
Bardet-Biedl syndrome 11 1 1 0 0 0 0 2
Benign recurrent intrahepatic cholestasis type 2 1 0 1 0 0 0 2
Bilateral talipes equinovarus; Restrictive ventilatory defect; Areflexia of lower limbs; Spinal rigidity; Thoracic kyphoscoliosis 0 0 2 0 0 0 2
Blindness 2 0 0 0 0 0 2
Brain abnormalities, neurodegeneration, and dysosteosclerosis 0 0 2 0 0 0 2
Brittle cornea syndrome 2 0 0 1 1 0 0 2
Brugada syndrome 2 0 0 2 0 0 0 2
Cafe-au-lait spot 2 0 0 0 0 0 2
Cardiac arrhythmia; Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Cardiac arrhythmia; Muscular dystrophy; Muscle weakness; Elbow flexion contracture; Lower-limb joint contracture 2 0 0 0 0 0 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 1 0 1 0 0 0 2
Cataplexy; Cerebellar ataxia; Cognitive impairment; Headache; Speech apraxia; Postural instability 2 0 0 0 0 0 2
Cataract 45 0 0 2 0 0 0 2
Cataract; Nystagmus; Retinal dystrophy; High myopia 0 2 0 0 0 0 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 2 0 0 0 0 2
Cerebellar ataxia; Muscle weakness; Dysarthria; Abnormal pyramidal sign 1 1 0 0 0 0 2
Cerebral amyloid angiopathy, APP-related 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease X-linked dominant 1 0 2 0 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2P 0 1 1 0 0 0 2
Charcot-Marie-Tooth disease dominant intermediate E 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 4A 2 0 0 0 0 0 2
Charlevoix-Saguenay spastic ataxia 0 0 2 0 0 0 2
Chorea-acanthocytosis 0 0 2 0 0 0 2
Chronic pancreatitis 1 1 0 0 0 0 2
Chédiak-Higashi syndrome 0 0 2 0 0 0 2
Ciliary dyskinesia, primary, 40 0 0 2 0 0 0 2
Cleft soft palate; Clubfoot; Femoral bowing; Radial bowing; Ulnar bowing; Short femur; Aplasia/hypoplasia of the femur; Bowing of the long bones; Camptodactyly 0 2 0 0 0 0 2
Clubfoot; Abnormal foot morphology; Cerebral cortical atrophy; Impaired vibration sensation in the lower limbs; Difficulty walking; EMG: axonal abnormality; Sensorimotor neuropathy; CNS demyelination; Hypertensive disorder; Gout 2 0 0 0 0 0 2
Clubfoot; EMG abnormality; Lower limb amyotrophy 2 0 0 0 0 0 2
Clubfoot; Encephalocele; Polydactyly, postaxial, type A1; Polycystic kidney disease; Oligohydramnios; Microcephaly; Narrow chest 2 0 0 0 0 0 2
Clubfoot; Polycystic kidney disease; Narrow chest; Hyperechogenic kidneys 0 0 2 0 0 0 2
Cobalamin deficiency; Megaloblastic anemia 1 0 1 0 0 0 2
Cobblestone lissencephaly without muscular or ocular involvement 0 0 2 0 0 0 2
Cognitive impairment; Cerebral atrophy; Memory impairment; Hypoplasia of the corpus callosum; Migraine with aura; Increased CSF lactate; Increased serum pyruvate 0 0 2 0 0 0 2
Colon cancer 0 0 2 0 0 0 2
Complex cortical dysplasia with other brain malformations 1 1 1 0 0 0 0 2
Cone dystrophy 0 0 2 0 0 0 2
Cone dystrophy; Retinal pigment epithelial atrophy 2 0 0 0 0 0 2
Congenital heart defects and skeletal malformations syndrome 0 0 2 0 0 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 2 0 0 0 2
Congenital muscular dystrophy 1 1 0 0 0 0 2
Congenital muscular dystrophy; Generalized muscle weakness; EMG: myopathic abnormalities; Congenital hip dislocation 0 0 2 0 0 0 2
Congenital muscular dystrophy; Muscle weakness 0 0 2 0 0 0 2
Congenital muscular dystrophy; Myopathy; Respiratory insufficiency 0 2 0 0 0 0 2
Congenital myasthenic syndrome 0 0 2 0 0 0 2
Congenital myasthenic syndrome 11 2 0 0 0 0 0 2
Congenital myasthenic syndrome 2A 0 1 1 0 0 0 2
Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Kidney damage; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe 0 2 0 0 0 0 2
Congenital stationary night blindness 1E 0 0 2 0 0 0 2
Congenital stationary night blindness 1G 0 0 2 0 0 0 2
Corpus callosum, agenesis of; Seizure; Focal-onset seizure; Ectopic tissue 0 0 2 0 0 0 2
Cranioectodermal dysplasia 4 0 0 2 0 0 0 2
Craniosynostosis 2 0 0 2 0 0 0 2
Craniosynostosis syndrome; Growth delay; Trident hand; Limb undergrowth 0 2 0 0 0 0 2
Curry-Hall syndrome 0 1 1 0 0 0 2
Cutis laxa, autosomal dominant 2 0 0 2 0 0 0 2
Cyanosis; Myoclonus; Dyspnea; Neonatal breathing dysregulation; Abnormal pattern of respiration; Breathing dysregulation; Hypotonia 0 0 2 0 0 0 2
Cystic leukoencephalopathy without megalencephaly 0 0 2 0 0 0 2
Cystic renal dysplasia; Occipital encephalocele 1 1 0 0 0 0 2
D-Glyceric aciduria 0 0 2 0 0 0 2
Deficiency of hydroxymethylglutaryl-CoA lyase 2 0 0 0 0 0 2
Desmin-related myofibrillar myopathy 0 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 41 0 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 54 0 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 66 0 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 69 0 0 2 0 0 0 2
Developmental regression 0 1 1 0 0 0 2
Dilated cardiomyopathy 1DD 1 0 1 0 0 0 2
Dilated cardiomyopathy 1O 0 0 2 0 0 0 2
Dysarthria; Cerebellar atrophy; Gait ataxia 0 0 2 0 0 0 2
Dysarthria; Gait ataxia; Cerebral cortical atrophy; Spastic paraparesis 2 0 0 0 0 0 2
Dysmetria; Gait ataxia; Gait imbalance 2 0 0 0 0 0 2
Dystonia 28, childhood-onset 0 0 2 0 0 0 2
Dystonic disorder 0 2 0 0 0 0 2
Dystonic disorder; Depression; Parkinsonian disorder; Dementia 0 0 2 0 0 0 2
Dystonic disorder; Mental deterioration; Tremor; Adult-onset night blindness; Peripheral visual field loss 2 0 0 0 0 0 2
Elevated circulating creatine kinase concentration; Distal muscle weakness; Fatty replacement of skeletal muscle 1 0 1 0 0 0 2
Elevated circulating creatine kinase concentration; Migraine; Difficulty walking; Positive Romberg sign; Paresthesia; EMG: neuropathic changes; Progressive spinal muscular atrophy; Absent muscle fiber calpain-3 2 0 0 0 0 0 2
Elevated circulating creatine kinase concentration; Polycystic kidney disease; Achilles tendon contracture; Lower limb amyotrophy; Lower limb muscle weakness 1 1 0 0 0 0 2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 1 0 1 0 0 0 2
Epicanthus; Short stature; Macrotia; Delayed speech and language development; Triangular face; Penile hypospadias; Strabismus; Laryngeal cleft; Abnormality of the pulmonary veins 0 0 2 0 0 0 2
Epidermolysis bullosa simplex, Koebner type 1 0 1 0 0 0 2
Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 1 0 1 0 2
Erythroderma; Increased circulating IgE level 0 2 0 0 0 0 2
Exudative vitreoretinopathy 1 0 0 1 1 0 0 2
FG syndrome 4 1 0 1 0 0 0 2
FRAXE 0 0 2 0 0 0 2
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0 0 2 0 0 0 2
Factor VII deficiency 0 2 0 0 0 0 2
Familial amyloid neuropathy 0 0 2 0 0 0 2
Familial aplasia of the vermis; Congenital cerebellar hypoplasia; Motor delay; Delayed speech and language development; Amblyopia; Hypoplasia of the brainstem; Congenital sensorineural hearing impairment; Cerebellar hemisphere hypoplasia 0 0 2 0 0 0 2
Familial aplasia of the vermis; Oligohydramnios; Renal cyst 0 2 0 0 0 0 2
Familial aplasia of the vermis; Polycystic kidney disease; Abnormality of the kidney; Cerebellar vermis hypoplasia; Cerebellar cyst; Hyperechogenic kidneys 2 0 0 0 0 0 2
Familial atrioventricular septal defect; Short stature; Focal segmental glomerulosclerosis; Microcephaly; Small for gestational age; Disproportionate short-trunk short stature; Decreased body weight; Primary microcephaly; Steroid-resistant nephrotic syndrome 2 0 0 0 0 0 2
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 0 0 2 0 0 0 2
Fetal akinesia deformation sequence 1 0 2 0 0 0 0 2
Fetal growth restriction; Narrow chest; Bowing of the long bones 2 0 0 0 0 0 2
Fontaine progeroid syndrome 2 0 0 0 0 0 2
Gait disturbance; Spastic paraparesis; Difficulty walking; Generalized hyperreflexia 0 2 0 0 0 0 2
Generalized myoclonic seizure; Progressive neurologic deterioration; Inability to walk; Difficulty standing; Severe global developmental delay 2 0 0 0 0 0 2
Genu valgum; Pes planus; Hyperextensibility of the finger joints; Generalized hypotonia; Myopathic facies; Hyperextensible hand joints; Hyperextensibility at elbow 0 1 1 0 0 0 2
Gillespie syndrome 0 0 2 0 0 0 2
Glaucoma 3, primary congenital, E 0 0 2 0 0 0 2
Glaucoma 3, primary infantile, B 0 0 2 0 0 0 2
Glaucoma 3A 1 0 1 0 0 0 2
Global developmental delay; Blindness 2 0 0 0 0 0 2
Global developmental delay; Seizure 0 1 1 0 0 0 2
Global developmental delay; Short stature; Single transverse palmar crease; Facial asymmetry; Strabismus; Decreased body weight; Ventricular septal defect 0 0 2 0 0 0 2
Glutaric aciduria, type 1 0 0 1 1 0 0 2
Glycogen storage disease IXa1 0 0 2 0 0 0 2
Glycogen storage disease IXd 0 1 1 0 0 0 2
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2 0 0 0 0 0 2
Growth delay; Delayed speech and language development; Intellectual disability; Periventricular leukomalacia; Atrophy/Degeneration affecting the brainstem; Corneal opacity; Delayed myelination 0 2 0 0 0 0 2
Growth delay; Hypoplasia of the corpus callosum; Abnormal facial shape; Abnormal pinna morphology; Microcephaly; Sparse and thin eyebrow; Abnormal optic nerve morphology; Sparse scalp hair; Downturned corners of mouth; CNS hypomyelination; Secondary microcephaly 0 0 0 2 0 0 2
Hammertoe; Difficulty walking; Inability to walk; Progressive muscle weakness; Lower limb muscle weakness 0 2 0 0 0 0 2
Hearing impairment; Myopia; Proteinuria; Hematuria; Hypertensive disorder 0 2 0 0 0 0 2
Heart disease 0 0 2 0 0 0 2
Hemihypertrophy; Scoliosis; Congenital contracture; Arthrogryposis multiplex congenita; Decreased muscle mass; Short lower limbs; Upper limb undergrowth 0 0 2 0 0 0 2
Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 2 0 0 0 2
Hereditary factor VIII deficiency disease 1 0 1 0 0 0 2
Hereditary spastic paraplegia 15 0 2 0 0 0 0 2
Hereditary spastic paraplegia 33 0 0 2 0 0 0 2
Heterotaxy, visceral, 8, autosomal 0 0 2 0 0 0 2
Hirschsprung disease, susceptibility to, 3 0 0 2 0 0 0 2
Hydrolethalus syndrome 2 0 0 2 0 0 0 2
Hypercholesterolemia, familial, 1 2 0 0 0 0 0 2
Hyperekplexia 1 0 0 2 0 0 0 2
Hypertelorism; Abnormal digit morphology; Venous malformation; Dural ectasia 1 0 1 0 0 0 2
Hypertelorism; Corpus callosum, agenesis of; Low-set ears; Abnormal facial shape; Clinodactyly of the 5th finger 0 1 1 0 0 0 2
Hypertelorism; Short stature; Downslanted palpebral fissures; Pedal edema 0 1 1 0 0 0 2
Hypertrichosis; Abnormality of metabolism/homeostasis; Coarse facial features; Abnormal facial shape; Thick eyebrow; Hepatosplenomegaly; Mucopolysacchariduria; Intellectual disability, severe 2 0 0 0 0 0 2
Hypertrophic cardiomyopathy 14 0 0 2 0 0 0 2
Hypertrophic cardiomyopathy; Chest pain 1 0 1 0 0 0 2
Hypogonadotropic hypogonadism 7 with or without anosmia; Cerebellar ataxia; Dysarthria 0 2 0 0 0 0 2
Hypomagnesemia, seizures, and intellectual disability 2 0 0 2 0 0 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 0 1 0 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 0 2 0 0 0 2
IFAP syndrome 1, with or without BRESHECK syndrome 0 0 2 0 0 0 2
Ichthyosis 2 0 0 0 0 0 2
Ichthyosis vulgaris 0 0 2 0 0 0 2
Idiopathic basal ganglia calcification 1 1 0 1 0 0 0 2
Immunodeficiency 36 0 1 1 0 0 0 2
Immunodeficiency, common variable, 2 0 1 1 0 0 0 2
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 0 0 2 0 0 0 2
Infantile-onset X-linked spinal muscular atrophy 0 0 2 0 0 0 2
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 2 0 0 0 2
Intellectual disability, X-linked 19 0 0 2 0 0 0 2
Intellectual disability, X-linked 72 0 0 2 0 0 0 2
Intellectual disability, X-linked 99 0 0 2 0 0 0 2
Intellectual disability, X-linked, syndromic, Houge type 0 0 2 0 0 0 2
Intellectual disability, autosomal dominant 14 0 0 2 0 0 0 2
Intellectual disability, autosomal dominant 30 0 0 1 0 1 0 2
Intellectual disability, autosomal dominant 40 0 0 2 0 0 0 2
Intellectual disability, autosomal dominant 50 0 0 2 0 0 0 2
Intellectual disability, autosomal recessive 3 0 0 2 0 0 0 2
Intellectual disability-epilepsy-extrapyramidal syndrome 0 0 1 1 0 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 2 0 0 0 2
Intellectual disability; Developmental delay 0 2 0 0 0 0 2
Iris coloboma; Nystagmus; Generalized hypotonia; Cerebellar vermis hypoplasia 1 1 0 0 0 0 2
Ischemic stroke; Focal white matter lesions 0 0 2 0 0 0 2
Jaundice; Erythema 0 0 1 1 0 0 2
Jawad syndrome 0 1 1 0 0 0 2
Joint laxity; EMG abnormality; EMG: myopathic abnormalities; Pain 0 0 2 0 0 0 2
Joubert syndrome 23 2 0 0 0 0 0 2
Koolen-de Vries syndrome 0 0 2 0 0 0 2
LEOPARD syndrome 2 1 0 1 0 0 0 2
Left ventricular noncompaction 1 0 1 1 0 0 0 2
Leukodystrophy; Status epilepticus; Global developmental delay; Seizure; Fetal growth restriction; EEG abnormality; Nystagmus; Hemiparesis; Strabismus; Progressive visual loss; Amblyopia; Small for gestational age; Breech presentation; Neonatal hypoglycemia; Developmental regression; Loss of ambulation; EMG abnormality; EMG: axonal abnormality; Dysmyelinating leukodystrophy 0 2 0 0 0 0 2
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 2 0 0 0 0 0 2
Limb-girdle muscular dystrophy; Muscular dystrophy; Waddling gait; Proximal lower limb amyotrophy; Decreased patellar reflex 0 2 0 0 0 0 2
Lipoic acid synthetase deficiency 0 1 1 0 0 0 2
Lissencephaly 4 1 0 1 0 0 0 2
Long QT syndrome 11 0 0 2 0 0 0 2
Macrocephaly; Dolichocephaly; Neonatal hypotonia; Large for gestational age 0 0 2 0 0 0 2
Malignant tumor of esophagus 0 1 1 0 0 0 2
Malignant tumor of prostate 0 0 2 0 0 0 2
Matthew-Wood syndrome 0 0 2 0 0 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 1 0 0 0 0 2
Mental deterioration; Dementia 1 1 0 0 0 0 2
Methylcobalamin deficiency type cblG 2 0 0 0 0 0 2
Microcephalic primordial dwarfism due to RTTN deficiency 0 0 2 0 0 0 2
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 1 0 0 0 2
Microcephaly, normal intelligence and immunodeficiency 1 0 1 0 0 0 2
Migraine with aura 2 0 0 0 0 0 2
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0 0 2 0 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 19 1 0 1 0 0 0 2
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2 0 0 0 0 0 2
Mitochondrial trifunctional protein deficiency 1 0 1 0 0 0 2
Monochromacy 0 2 0 0 0 0 2
Mowat-Wilson syndrome 0 0 0 1 1 0 2
Mucopolysaccharidosis type 7 0 0 2 0 0 0 2
Muscle weakness; Hypokalemia; Hypermagnesemia; Myalgia 1 0 1 0 0 0 2
Muscle weakness; Ptosis; Dyspnea; Breathing dysregulation 0 2 0 0 0 0 2
Muscular dystrophy 1 1 0 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 0 0 2 0 0 0 2
Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 0 1 1 0 0 0 2
Myelodysplastic syndrome 1 0 1 0 0 0 2
Myopathy; Muscle weakness; Absent Achilles reflex 1 1 0 0 0 0 2
Myopathy; Rhabdomyolysis 0 2 0 0 0 0 2
Myopia 21, autosomal dominant 0 0 2 0 0 0 2
Myopia; Progressive sensorineural hearing impairment; Vertigo 0 1 1 0 0 0 2
Nemaline myopathy 2 0 0 2 0 0 0 2
Nemaline myopathy 6 0 0 2 0 0 0 2
Neonatal pseudo-hydrocephalic progeroid syndrome 0 0 2 0 0 0 2
Nephrolithiasis, calcium oxalate 0 2 0 0 0 0 2
Netherton syndrome 0 2 0 0 0 0 2
Neurodegeneration 2 0 0 0 0 0 2
Neurodegeneration with brain iron accumulation 5 1 1 0 0 0 0 2
Neuronal ceroid lipofuscinosis 2 2 0 0 0 0 0 2
Neuropathy, hereditary sensory, type 1D 0 0 2 0 0 0 2
Nicolaides-Baraitser syndrome 0 0 1 0 1 0 2
Nystagmus; Molar tooth sign on MRI; Central hypotonia 2 0 0 0 0 0 2
Obesity; Epistaxis; Abnormal facial shape; Numerous pigmented freckles; Abnormal platelet function; Abnormal platelet morphology; Increased mean platelet volume; Abnormal platelet shape; Thrombocytopenia; Hypertensive disorder 1 1 0 0 0 0 2
Occipital pachygyria and polymicrogyria 0 0 2 0 0 0 2
Optic atrophy; Developmental regression; CNS hypomyelination; Peripheral hypomyelination; Profound global developmental delay 1 0 1 0 0 0 2
Orofaciodigital syndrome type 14 0 0 1 0 1 0 2
Orofaciodigital syndrome type 6 2 0 0 0 0 0 2
Osteoarthritis susceptibility 2 0 1 1 0 0 0 2
Osteoporosis; Myotonia; Mildly elevated creatine kinase; Limb pain 0 0 2 0 0 0 2
PHGDH deficiency 0 2 0 0 0 0 2
Pain insensitivity 2 0 0 0 0 0 2
Pallister-Hall syndrome 0 0 2 0 0 0 2
Palmoplantar keratoderma 0 2 0 0 0 0 2
Pectus excavatum; Cognitive impairment; Abnormal corpus callosum morphology; Dysarthria; Polyneuropathy; Cerebellar atrophy; Pes cavus; Spastic paraplegia 0 1 1 0 0 0 2
Pelger-Huët anomaly 1 0 1 0 0 0 2
Peripheral axonal neuropathy 0 2 0 0 0 0 2
Periventricular nodular heterotopia 9 0 0 2 0 0 0 2
Permanent neonatal diabetes mellitus 0 0 2 0 0 0 2
Peroxisome biogenesis disorder 9B 2 0 0 0 0 0 2
Phelan-McDermid syndrome 0 0 1 1 0 0 2
Pheochromocytoma 0 0 2 0 0 0 2
Pigmentary retinopathy; Macular degeneration; Blurred vision; Abnormality of retinal pigmentation 0 1 1 0 0 0 2
Pigmented nodular adrenocortical disease, primary, 2 0 0 2 0 0 0 2
Platelet-type bleeding disorder 16 0 2 0 0 0 0 2
Polycystic kidney disease; Hypertensive disorder 1 1 0 0 0 0 2
Polycystic kidney disease; Multicystic kidney dysplasia 0 1 1 0 0 0 2
Polycystic kidney disease; Oligohydramnios; Periportal fibrosis 1 0 1 0 0 0 2
Polycystic kidney disease; Renal cyst; Ventricular hypertrophy 2 0 0 0 0 0 2
Polydactyly; Nystagmus; Hypotonia 2 0 0 0 0 0 2
Polyglucosan body myopathy type 2 1 0 1 0 0 0 2
Porencephalic cyst; Hydrocephalus; Dolichocephaly; Narrow chest; Neonatal hypotonia; Umbilical hernia; Macrocephaly at birth; Severe global developmental delay 2 0 0 0 0 0 2
Potocki-Lupski syndrome 1 0 1 0 0 0 2
Primary ciliary dyskinesia 7 0 1 1 0 0 0 2
Primary open angle glaucoma 0 0 2 0 0 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 0 1 1 0 0 0 2
Progressive retinal dystrophy due to retinol transport defect 0 0 1 0 1 0 2
Progressive sensorineural hearing impairment 1 0 1 0 0 0 2
Propionic acidemia 0 0 2 0 0 0 2
Protoporphyria, erythropoietic, 1 0 0 1 1 0 0 2
Pseudo-Hurler polydystrophy 1 0 1 0 0 0 2
Pyruvate carboxylase deficiency 0 1 1 0 0 0 2
Pyruvate dehydrogenase E2 deficiency 1 0 1 0 0 0 2
Pyruvate dehydrogenase E3-binding protein deficiency 0 1 1 0 0 0 2
Recurrent pancreatitis 1 0 1 0 0 0 2
Respiratory insufficiency; Stridor; Bilateral ptosis; Delayed gross motor development 0 2 0 0 0 0 2
Retinal cone dystrophy 4 0 0 2 0 0 0 2
Retinitis pigmentosa 1 0 1 1 0 0 0 2
Retinitis pigmentosa 18 0 0 2 0 0 0 2
Retinitis pigmentosa 43 2 0 0 0 0 0 2
Retinitis pigmentosa 44 0 0 2 0 0 0 2
Retinitis pigmentosa 45 0 0 2 0 0 0 2
Retinitis pigmentosa 51 1 1 0 0 0 0 2
Rett syndrome, congenital variant 0 0 2 0 0 0 2
Rhabdomyosarcoma 1 0 1 0 0 0 2
Rienhoff syndrome 0 0 2 0 0 0 2
Right ventricular cardiomyopathy 0 1 1 0 0 0 2
Rod-cone dystrophy 0 0 2 0 0 0 2
STAT3-related early-onset multisystem autoimmune disease 0 0 2 0 0 0 2
Schizophrenia 4 1 1 0 0 0 0 2
Scoliosis; Proximal muscle weakness; Delayed gross motor development; Pelvic girdle muscle weakness; Progressive distal muscle weakness 0 1 1 0 0 0 2
Seckel syndrome 5 0 2 0 0 0 0 2
Seizure; Connective tissue nevi 1 0 1 0 0 0 2
Seizure; Delayed speech and language development; Macrocephaly; Joint laxity; Generalized joint hypermobility 0 0 2 0 0 0 2
Seizure; Memory impairment; Gait ataxia; Spastic paraplegia 1 1 0 0 0 0 2
Seizure; Ventriculomegaly 2 0 0 0 0 0 2
Seizures, benign familial neonatal, 2 0 1 1 0 0 0 2
Severe X-linked myotubular myopathy 1 1 0 0 0 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 1 0 0 0 0 2
Shashi-Pena syndrome 0 0 2 0 0 0 2
Short chin; Feeding difficulties; Bilateral cryptorchidism; Hypoplasia of scrotum; Joint hypermobility; Generalized neonatal hypotonia 2 0 0 0 0 0 2
Short stature; Cognitive impairment 1 0 1 0 0 0 2
Short stature; Deeply set eye; Agenesis of permanent teeth; Microcephaly; Splenomegaly 1 1 0 0 0 0 2
Short stature; Hirsutism; Myopia; Synophrys; Intellectual disability, moderate; Primary microcephaly; Hypotonia 0 0 2 0 0 0 2
Short stature; Retinal dystrophy; Microcephaly; Progressive visual loss; Intellectual disability; Short foot; Neutropenia; Recurrent aphthous stomatitis; Small hand 2 0 0 0 0 0 2
Short stature; Toe syndactyly; Finger syndactyly; Palmoplantar blistering 1 1 0 0 0 0 2
Shprintzen-Goldberg syndrome 0 1 1 0 0 0 2
Skraban-Deardorff syndrome 1 0 1 0 0 0 2
Sleep abnormality; Muscle weakness; Gait disturbance; Rigidity; Gait ataxia; Gait imbalance 0 1 1 0 0 0 2
Spastic paraparesis 1 1 0 0 0 0 2
Spastic paraplegia 2 0 0 0 0 0 2
Spastic tetraplegia and axial hypotonia, progressive 1 0 1 0 0 0 2
Spinocerebellar ataxia type 1 0 0 1 1 0 0 2
Spinocerebellar ataxia type 10 0 0 2 0 0 0 2
Spinocerebellar ataxia type 2 0 0 1 0 1 0 2
Spinocerebellar ataxia type 27 0 0 2 0 0 0 2
Spondylocostal dysostosis 5 0 0 2 0 0 0 2
Spondyloepimetaphyseal dysplasia, Bieganski type 0 1 1 0 0 0 2
Stage 5 chronic kidney disease; Hyperkalemia; Thrombocytopenia; Hypertensive disorder 0 0 2 0 0 0 2
Stargardt-like macular dystrophy 0 0 2 0 0 0 2
Stickler syndrome, type 4 0 0 2 0 0 0 2
Stromme syndrome 0 0 1 1 0 0 2
Stuttering, familial persistent, 1 0 0 2 0 0 0 2
Syncope; Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Syndromic X-linked intellectual disability Siderius type 0 1 1 0 0 0 2
Syndromic multisystem autoimmune disease due to ITCH deficiency 0 1 1 0 0 0 2
Synpolydactyly type 1 1 0 1 0 0 0 2
Systemic lupus erythematosus 1 1 0 0 0 0 2
Tietz syndrome 0 0 2 0 0 0 2
Torsion dystonia 6 0 1 1 0 0 0 2
Treacher Collins syndrome 1 1 0 1 0 0 0 2
Tremor, hereditary essential, 5 0 0 2 0 0 0 2
Vasculitis 0 0 2 0 0 0 2
Visual impairment; Central scotoma; Macular degeneration; Retinal atrophy 1 1 0 0 0 0 2
Visual impairment; Retinopathy 1 0 1 0 0 0 2
Wagner syndrome 0 0 2 0 0 0 2
Werner syndrome 1 0 1 0 0 0 2
Wilms tumor 1 0 0 2 0 0 0 2
X-linked intellectual disability, Stocco dos Santos type 0 0 1 1 0 0 2
Xeroderma pigmentosum, group D 0 0 2 0 0 0 2
Zimmermann-Laband syndrome 1 0 0 2 0 0 0 2
alpha Thalassemia 2 0 0 0 0 0 2
von Willebrand disease type 2 1 0 1 0 0 0 2
2-aminoadipic 2-oxoadipic aciduria 0 0 1 0 0 0 1
2-hydroxyglutaric aciduria 0 1 0 0 0 0 1
3-Methylglutaconic aciduria type 3 0 0 1 0 0 0 1
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 0 1 0 0 0 1
3M syndrome 1 0 1 0 0 0 0 1
3M syndrome 2 0 1 0 0 0 0 1
46,XX sex reversal 4 0 1 0 0 0 0 1
46,XY sex reversal 6 0 0 1 0 0 0 1
8q24.3 microdeletion syndrome 0 0 0 0 1 0 1
ALG1-congenital disorder of glycosylation 0 0 0 0 1 0 1
ALG3-congenital disorder of glycosylation 0 1 0 0 0 0 1
ALG8 congenital disorder of glycosylation 0 1 0 0 0 0 1
Abdominal pain; Anxiety; Elevated urinary delta-aminolevulinic acid; Acute episodes of neuropathic symptoms 0 1 0 0 0 0 1
Abnormal aortic valve morphology 1 0 0 0 0 0 1
Abnormal blistering of the skin; Porphyrinuria; Abdominal colic 1 0 0 0 0 0 1
Abnormal circulating carbohydrate concentration 0 1 0 0 0 0 1
Abnormal rectum morphology; Megacolon 0 0 1 0 0 0 1
Abnormality of acid-base homeostasis; Impaired gluconeogenesis 0 0 1 0 0 0 1
Abnormality of the ovary; Premature ovarian insufficiency 0 1 0 0 0 0 1
Abnormality of the skeletal system; Myopia; Cutis laxa; Mitral valve prolapse; Abnormality of connective tissue; Scleroderma 0 0 1 0 0 0 1
Abnormality of the skin 0 0 1 0 0 0 1
Acrodysostosis 2 with or without hormone resistance 0 0 1 0 0 0 1
Acromelic frontonasal dysostosis 0 0 1 0 0 0 1
Acute myeloid leukemia 0 0 1 0 0 0 1
Adams-Oliver syndrome 1 0 0 1 0 0 0 1
Adenomatous colonic polyposis 1 0 0 0 0 0 1
Adenylosuccinate lyase deficiency 1 0 0 0 0 0 1
Adult-onset autosomal dominant demyelinating leukodystrophy 0 0 1 0 0 0 1
Age related macular degeneration 6 0 0 1 0 0 0 1
Alagille syndrome due to a NOTCH2 point mutation 0 0 1 0 0 0 1
Alazami-Yuan syndrome 0 1 0 0 0 0 1
Albinism 0 1 0 0 0 0 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 1 0 0 0 1
Alopecia areata; Stereotypic movement disorder; Developmental regression; Incomprehensible speech; Alopecia 0 0 1 0 0 0 1
Alpha-N-acetylgalactosaminidase deficiency type 2 0 1 0 0 0 0 1
Alstrom syndrome 1 0 0 0 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 0 1 0 0 0 0 1
Alzheimer disease 0 0 1 0 0 0 1
Amelogenesis imperfecta; Peripheral pulmonary artery stenosis 0 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 1 0 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 6 0 0 1 0 0 0 1
Androgen resistance syndrome 1 0 0 0 0 0 1
Anemia 0 0 1 0 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 0 0 1
Anemia; Abnormal hemoglobin; Persistence of hemoglobin F; Reduced beta/alpha synthesis ratio 1 0 0 0 0 0 1
Aneurysm of descending aorta; Arterial tortuosity 0 0 1 0 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 0 0 1 0 0 0 1
Anterior creases of earlobe; Camptodactyly of 2nd-5th fingers; Congenital contracture; Hip contracture; Knee flexion contracture; Clinodactyly 0 0 1 0 0 0 1
Anterior creases of earlobe; Delayed speech and language development; Strabismus; Glabellar hemangioma; Intellectual disability 0 1 0 0 0 0 1
Aortic aneurysm, familial thoracic 10 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 7 0 0 1 0 0 0 1
Aplasia of the uterus; Absent axillary hair; Absent pubic hair; Female external genitalia in individual with 46,XY karyotype 1 0 0 0 0 0 1
Aplasia/Hypoplasia of the corpus callosum; Intellectual disability, severe; Primary microcephaly 0 1 0 0 0 0 1
Aplastic anemia; Atrial septal defect; Pulmonary arterial hypertension; Hypotelorism; Hemangioma; Hepatomegaly; Abnormal pinna morphology; Downslanted palpebral fissures; Wide anterior fontanel; Low-set, posteriorly rotated ears; Dry skin; Relative macrocephaly; Lateral ventricle dilatation; Intracerebral periventricular calcifications; Aplasia of the ovary; Erythroid hypoplasia; Vaginal hydrocele 1 0 0 0 0 0 1
Aromatase deficiency 0 1 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 0 1
Ascending tubular aorta aneurysm; Scoliosis; Tall stature; Joint hypermobility; High myopia; Aortic aneurysm 1 0 0 0 0 0 1
Astigmatism; Cystoid macular edema; Abnormal electroretinogram; Pigmentary retinopathy; Dyschromatopsia; Abnormality of retinal pigmentation; Electronegative electroretinogram 0 0 1 0 0 0 1
Astigmatism; Motor delay; Delayed speech and language development; Joint hypermobility; Long fingers 1 0 0 0 0 0 1
Astigmatism; Velopharyngeal insufficiency; Inguinal hernia; Feeding difficulties; Vomiting; Umbilical hernia; Speech articulation difficulties; Ectopic thymus tissue; Abnormal soft palate morphology 1 0 0 0 0 0 1
Astrocytoma; Kidney angiomyolipoma; Angiofibromas 0 0 1 0 0 0 1
Ataxia - oculomotor apraxia type 4 0 1 0 0 0 0 1
Ataxia-pancytopenia syndrome 0 0 1 0 0 0 1
Atopic eczema; Hypertrichosis; Hypoglycemia; Hyperinsulinemia 0 1 0 0 0 0 1
Atrial conduction disease 0 0 1 0 0 0 1
Atrial septal defect 2 0 0 1 0 0 0 1
Atrial septal defect 4 0 0 1 0 0 0 1
Atrial septal defect; Choanal atresia; Abnormal facial shape; Pyloric stenosis 0 1 0 0 0 0 1
Atrial septal defect; Hydronephrosis; Cerebral atrophy; Large fontanelles; Penile hypospadias; Abnormality of the nail; Teratoma; Midface retrusion 0 1 0 0 0 0 1
Atrial septal defect; Polycystic kidney disease; Clinodactyly of the 5th finger; Abnormality of the face; Intellectual disability; 4-5 finger syndactyly 0 1 0 0 0 0 1
Atrioventricular septal defect, susceptibility to, 2 0 0 1 0 0 0 1
Atrophia bulborum hereditaria 0 1 0 0 0 0 1
Atypical behavior; Slurred speech; Progressive gait ataxia; Movement disorder 0 0 1 0 0 0 1
Au-Kline syndrome 1 0 0 0 0 0 1
Aural atresia, congenital 0 0 1 0 0 0 1
Auriculocondylar syndrome 2 0 0 1 0 0 0 1
Autism spectrum disorder - epilepsy - arthrogryposis syndrome 0 0 1 0 0 0 1
Autism, susceptibility to, 5 0 0 1 0 0 0 1
Autism, susceptibility to, X-linked 1 0 0 0 0 1 0 1
Autism; Attention deficit hyperactivity disorder 0 0 1 0 0 0 1
Autism; Global developmental delay 0 0 1 0 0 0 1
Autism; Global developmental delay; Cognitive impairment; Delayed speech and language development; Intellectual disability, moderate 0 0 1 0 0 0 1
Autism; Global developmental delay; Delayed speech and language development 1 0 0 0 0 0 1
Autism; Short attention span; Delayed speech and language development; Long face; Strabismus; Intellectual disability; Generalized joint hypermobility; Prominent forehead 1 0 0 0 0 0 1
Autistic behavior; Intellectual disability 0 1 0 0 0 0 1
Autistic behavior; Seizure; Atypical behavior; Intellectual disability 0 1 0 0 0 0 1
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 1 0 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 0 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 0 0 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 15 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 41 0 0 1 0 0 0 1
Autosomal dominant sensory ataxia 1 0 0 1 0 0 0 1
Autosomal recessive Kenny-Caffey syndrome 0 1 0 0 0 0 1
Autosomal recessive axonal neuropathy with neuromyotonia 1 0 0 0 0 0 1
Autosomal recessive early-onset Parkinson disease 6 0 0 1 0 0 0 1
Autosomal recessive hypophosphatemic bone disease 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 0 0 0 0 1
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 3 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 37 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 4 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 1 0 0 0 0 0 1
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 0 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 10 0 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 20 0 1 0 0 0 0 1
Azorean disease 0 0 0 0 1 0 1
BLOOD GROUP--LUTHERAN INHIBITOR 0 0 1 0 0 0 1
Baraitser-Winter syndrome 1 0 0 1 0 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 0 0 1
Bardet-Biedl syndrome 12 1 0 0 0 0 0 1
Bardet-Biedl syndrome 13 1 0 0 0 0 0 1
Bardet-Biedl syndrome 16 0 1 0 0 0 0 1
Bardet-Biedl syndrome 4 0 1 0 0 0 0 1
Bardet-Biedl syndrome 5 1 0 0 0 0 0 1
Bardet-Biedl syndrome 6 0 0 0 1 0 0 1
Bartter disease type 1 0 0 1 0 0 0 1
Basal laminar drusen 0 0 0 0 1 0 1
Batten-Turner congenital myopathy 0 1 0 0 0 0 1
Beaded hair 0 0 1 0 0 0 1
Beckwith-Wiedemann syndrome 0 0 1 0 0 0 1
Bietti crystalline corneoretinal dystrophy 0 1 0 0 0 0 1
Bilateral microphthalmos; Anteverted nares; Intellectual disability; Cutaneous finger syndactyly 1 0 0 0 0 0 1
Bilateral sensorineural hearing impairment 1 0 0 0 0 0 1
Biotin-responsive basal ganglia disease 1 0 0 0 0 0 1
Blepharocheilodontic syndrome 2 0 1 0 0 0 0 1
Blepharophimosis; Atrial septal defect; Visual impairment; Hypothyroidism; Abnormal facial shape; Excessive wrinkled skin; Severe global developmental delay; Ventricular septal defect 0 0 1 0 0 0 1
Blindness; Night blindness; Retinal pigment epithelial atrophy; Macular dystrophy; Optic disc drusen 0 1 0 0 0 0 1
Blindness; Parkinsonian disorder 0 1 0 0 0 0 1
Blindness; Rod-cone dystrophy; Pigmentary retinopathy; Abnormal macular morphology; Retinal pigment epithelial atrophy 1 0 0 0 0 0 1
Blue sclerae; Osteopenia; Increased susceptibility to fractures 1 0 0 0 0 0 1
Blurred vision; Night blindness; Peripheral visual field loss 1 0 0 0 0 0 1
Borjeson-Forssman-Lehmann syndrome 0 0 0 0 1 0 1
Bowing of the legs; Hypophosphatemic rickets; Lower limb pain 1 0 0 0 0 0 1
Brachydactyly type A1 0 0 1 0 0 0 1
Brachydactyly; Alopecia areata; Pear-shaped nose; Proportionate short stature 0 1 0 0 0 0 1
Brachydactyly; Global developmental delay; Abnormal facial shape; Intellectual disability 0 1 0 0 0 0 1
Brachydactyly; Global developmental delay; Hyperactivity; Abnormal facial shape; Myopia; Short nose; Microcephaly; Strabismus; Generalized hypotonia; Poor speech; Pulmonary artery stenosis; Abnormal talus morphology; Short thumb; Intellectual disability, severe; Methemoglobinemia 1 0 0 0 0 0 1
Branchiooculofacial syndrome 0 1 0 0 0 0 1
Bruck syndrome 2 0 1 0 0 0 0 1
Brugada syndrome 6 0 0 1 0 0 0 1
Bruising susceptibility; Fragile skin; Joint hypermobility 0 1 0 0 0 0 1
Bullous ichthyosiform erythroderma; Epidermal nevus; Ichthyosis; Abnormality of the thyroid gland 0 1 0 0 0 0 1
CFHR5 deficiency 0 0 1 0 0 0 1
CK syndrome 0 0 1 0 0 0 1
COG4-congenital disorder of glycosylation 0 0 1 0 0 0 1
COG5-congenital disorder of glycosylation 0 0 1 0 0 0 1
COG7 congenital disorder of glycosylation 0 0 1 0 0 0 1
Cafe au lait spots, multiple; Axillary freckling; Focal T2 hyperintense basal ganglia lesion 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Axillary freckling; Large cafe-au-lait macules with irregular margins; Lisch nodules; Delayed fine motor development; Inguinal freckling 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Delayed speech and language development; Premature birth; Infantile muscular hypotonia 0 0 1 0 0 0 1
Cafe au lait spots, multiple; Motor delay; Focal-onset seizure 0 0 1 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma; Abnormality of vision 0 1 0 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma; Axillary freckling 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma; Axillary freckling; Inguinal freckling 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma; Axillary freckling; Optic nerve glioma 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Neurofibroma; Cafe-au-lait spot; Axillary freckling; Inguinal freckling 0 1 0 0 0 0 1
Cafe au lait spots, multiple; Optic nerve glioma 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Subcutaneous neurofibroma 1 0 0 0 0 0 1
Cafe au lait spots, multiple; Thoracic scoliosis; Subcutaneous neurofibroma 0 1 0 0 0 0 1
Cafe-au-lait spot; Axillary freckling; Optic nerve glioma 1 0 0 0 0 0 1
Cafe-au-lait spot; Axillary freckling; Plexiform neurofibroma 0 1 0 0 0 0 1
Cafe-au-lait spot; Macrocephaly; Tibial pseudarthrosis 0 1 0 0 0 0 1
Camptomelic dysplasia 0 0 1 0 0 0 1
Cardiac arrhythmia; Noncompaction cardiomyopathy 0 1 0 0 0 0 1
Cardiac arrhythmia; Sudden cardiac death; Ventricular fibrillation; Aortic dilatation; Bicuspid aortic valve 1 0 0 0 0 0 1
Cardiac arrhythmia; Wolff-Parkinson-White pattern; Joint dislocation; Joint laxity; Arthralgia; Hyperextensible hand joints 0 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 4 0 0 1 0 0 0 1
Cardiomyopathy-hypotonia-lactic acidosis syndrome 0 0 1 0 0 0 1
Cardiomyopathy; Amyloidosis 0 0 1 0 0 0 1
Carnitine palmitoyl transferase II deficiency, neonatal form 0 1 0 0 0 0 1
Cataract 16 multiple types 0 0 1 0 0 0 1
Cataract 21 multiple types 0 1 0 0 0 0 1
Cataract 30 0 0 1 0 0 0 1
Cataract 40 0 0 1 0 0 0 1
Cataract 5 multiple types 0 0 1 0 0 0 1
Centra precocious puberty 1 0 1 0 0 0 0 1
Cerebellar ataxia 0 0 1 0 0 0 1
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 1 0 0 0 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 0 1 0 0 0 0 1
Cerebellar ataxia; Bipolar affective disorder; Spastic gait; CNS demyelination 0 0 1 0 0 0 1
Cerebellar ataxia; Cerebral atrophy; Dysarthria; Dysphagia; Cerebellar atrophy; Acanthocytosis; Chorea 0 0 1 0 0 0 1
Cerebellar ataxia; Dysarthria; Intention tremor; Spastic paraparesis; Mild global developmental delay 0 1 0 0 0 0 1
Cerebellar ataxia; Global developmental delay; Absent speech 0 1 0 0 0 0 1
Cerebellar ataxia; Global developmental delay; Seizure; Microcephaly; Myoclonus 1 0 0 0 0 0 1
Cerebellar ataxia; Global developmental delay; Seizure; Stereotypic movement disorder; Epileptic encephalopathy; Hypotonia 0 1 0 0 0 0 1
Cerebellar ataxia; Headache; Cerebellar atrophy; Gait ataxia; Impaired vibration sensation in the lower limbs; Vertigo; Muscle spasm 0 0 1 0 0 0 1
Cerebellar ataxia; Hearing impairment; Gait disturbance; Sensory neuropathy; Poor speech 0 0 1 0 0 0 1
Cerebellar ataxia; Immunodeficiency; Conjunctival telangiectasia; Oculomotor apraxia 1 0 0 0 0 0 1
Cerebellar ataxia; Macrocephaly; CNS demyelination 0 1 0 0 0 0 1
Cerebellar ataxia; Mild global developmental delay 0 0 1 0 0 0 1
Cerebellar ataxia; Short stature; Hearing impairment; Difficulty walking; Oromandibular dystonia 0 0 1 0 0 0 1
Cerebellar ataxia; Spasticity; Nystagmus; Strabismus; Postaxial hand polydactyly; Postaxial foot polydactyly; Ventriculomegaly 0 1 0 0 0 0 1
Cerebellar hemangioblastoma; Pancreatic cysts; Retinal capillary hemangioma; Spinal hemangioblastoma 1 0 0 0 0 0 1
Cerebral arteriovenous malformation; Seizure; Hemiparesis; Cavernous hemangioma 0 1 0 0 0 0 1
Cerebral cavernous malformation 3 1 0 0 0 0 0 1
Cerebral palsy, spastic quadriplegic, 2 0 0 0 0 1 0 1
Cerebroretinal microangiopathy with calcifications and cysts 1 0 0 0 1 0 0 1
Char syndrome 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 6 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2L 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 1C 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4B2 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4B3 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 4D 0 0 1 0 0 0 1
Childhood apraxia of speech 0 0 0 0 1 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 1 0 0 0 0 0 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 0 0 1 0 0 0 1
Cholestanol storage disease 0 1 0 0 0 0 1
Cholestasis, intrahepatic, of pregnancy, 3 0 0 1 0 0 0 1
Chorioretinal atrophy; Night blindness 0 1 0 0 0 0 1
Choroideremia 0 1 0 0 0 0 1
Christianson syndrome 0 0 0 1 0 0 1
Chromosome 1p32-p31 deletion syndrome 0 1 0 0 0 0 1
Chromosome 1q21.1 deletion syndrome 0 0 1 0 0 0 1
Chronic infantile neurological, cutaneous and articular syndrome 0 0 1 0 0 0 1
Classic dopamine transporter deficiency syndrome 0 1 0 0 0 0 1
Cleft palate 1 0 0 0 0 0 1
Cleft upper lip; Narrow nasal bridge; Underdeveloped nasal alae; Finger syndactyly; Sparse hair; 4-5 finger syndactyly; Edema of the dorsum of feet 0 1 0 0 0 0 1
Clubfoot 0 0 1 0 0 0 1
Clubfoot; Cutis laxa; Hyperextensible skin; Soft skin; Bruising susceptibility; Atrophic scars; Joint hypermobility; Bilateral talipes equinovarus; Joint hyperflexibility; Edema of the dorsum of feet 0 1 0 0 0 0 1
Clubfoot; Gait disturbance; Impaired vibration sensation in the lower limbs; Shuffling gait; Distal muscle weakness; EMG: neuropathic changes; Progressive distal muscular atrophy; Foot dorsiflexor weakness 0 0 1 0 0 0 1
Coarctation of aorta; Tall stature; Specific learning disability 0 0 1 0 0 0 1
Cockayne syndrome 0 1 0 0 0 0 1
Coffin-Siris syndrome 10 0 0 1 0 0 0 1
Coffin-Siris syndrome 6 1 0 0 0 0 0 1
Coffin-Siris syndrome 7 0 0 1 0 0 0 1
Cognitive impairment; Headache; Constriction of peripheral visual field; Vertigo; Muscle spasm; Paresthesia; Abnormal brain morphology 0 0 1 0 0 0 1
Cohen-Gibson syndrome 0 0 1 0 0 0 1
Cole-Carpenter syndrome 1 0 0 1 0 0 0 1
Coloboma of optic nerve 0 0 1 0 0 0 1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 0 0 1 0 0 0 1
Color vision defect; Macular degeneration; Photophobia 0 1 0 0 0 0 1
Colorectal polyposis; Colonic neoplasm 0 0 1 0 0 0 1
Combined deficiency of sialidase AND beta galactosidase 0 0 1 0 0 0 1
Combined immunodeficiency due to STIM1 deficiency 0 0 1 0 0 0 1
Combined malonic and methylmalonic acidemia 0 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 14 0 0 1 0 0 0 1
Combined oxidative phosphorylation defect type 27 1 0 0 0 0 0 1
Combined oxidative phosphorylation deficiency 44 0 0 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 2 0 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 3 0 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 0 1 0 0 0 1
Cone-rod dystrophy 16 1 0 0 0 0 0 1
Cone-rod dystrophy 19 0 0 0 0 1 0 1
Cone-rod dystrophy 5 0 0 1 0 0 0 1
Cone-rod dystrophy and hearing loss 1 0 0 1 0 0 0 1
Congenital blindness; Abnormality of vision; Abnormal electroretinogram; Retinal degeneration 1 0 0 0 0 0 1
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 0 1 0 0 0 1
Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 0 0 1 0 0 1
Congenital central hypoventilation 0 0 1 0 0 0 1
Congenital cerebellar hypoplasia 1 0 0 0 0 0 1
Congenital cerebellar hypoplasia; Corpus callosum, agenesis of; Brachycephaly; Microcephaly; Mild fetal ventriculomegaly 0 0 1 0 0 0 1
Congenital cerebellar hypoplasia; Feeding difficulties; Ichthyosis; Microcephaly; Abnormality of the skin; Dry skin; Paroxysmal dystonia; Abnormality of salivation 1 0 0 0 0 0 1
Congenital cerebellar hypoplasia; Global developmental delay; Hypertonia; Nystagmus; Primary microcephaly 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia; High palate; Delayed puberty; Partial agenesis of the corpus callosum; Microcephaly; Small for gestational age; Abnormal cortical gyration; Hypoglycemic encephalopathy; Periventricular cysts 0 0 0 1 0 0 1
Congenital cerebellar hypoplasia; Seizure; Absent speech; Microcephaly; Periventricular leukomalacia; Severe global developmental delay 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Seizure; Arthrogryposis multiplex congenita; Kyphosis; Spinal rigidity; Cerebral hypoplasia; Severe global developmental delay 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Seizure; Oligohydramnios; Nystagmus; Hypoplasia of the corpus callosum; Delayed gross motor development 0 1 0 0 0 0 1
Congenital diarrhea 6 1 0 0 0 0 0 1
Congenital heart defects and ectodermal dysplasia 0 0 1 0 0 0 1
Congenital heart defects, multiple types, 6 0 0 1 0 0 0 1
Congenital hypothyroidism; Global developmental delay; Short stature; Delayed speech and language development; Delayed gross motor development; Protruding tongue; Intellectual disability, severe 0 1 0 0 0 0 1
Congenital ichthyosiform erythroderma; Congenital nonbullous ichthyosiform erythroderma 1 0 0 0 0 0 1
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 0 0 0 1 0 1
Congenital muscular dystrophy; Joint hypermobility; Thoracolumbar scoliosis; Pes valgus; Hypotonia 1 0 0 0 0 0 1
Congenital myasthenic syndrome 15 0 0 1 0 0 0 1
Congenital myasthenic syndrome 1A 0 0 1 0 0 0 1
Congenital myasthenic syndrome 3A 0 0 1 0 0 0 1
Congenital myasthenic syndrome 7 0 0 1 0 0 0 1
Congenital myasthenic syndrome 8 0 1 0 0 0 0 1
Congenital omphalocele; High palate; Depressed nasal bridge; Generalized hypotonia; Joint hypermobility; Thoracolumbar scoliosis 1 0 0 0 0 0 1
Congenital primary aphakia 0 0 1 0 0 0 1
Congenital secretory diarrhea, chloride type 1 0 0 0 0 0 1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 1 0 0 0 0 1
Congenital stationary night blindness 1A 0 1 0 0 0 0 1
Congenital stationary night blindness 1C 1 0 0 0 0 0 1
Congenital vertical talus 0 0 1 0 0 0 1
Corneal dystrophy, Fuchs endothelial, 8 0 0 1 0 0 0 1
Cornelia de Lange syndrome 3 0 0 1 0 0 0 1
Corpus callosum, agenesis of; Global developmental delay; Seizure; Aggressive behavior; Hypothyroidism; Stereotypic movement disorder; Abnormality of the dentition; Decreased response to growth hormone stimulation test 0 1 0 0 0 0 1
Corpus callosum, agenesis of; Hypertrichosis; Global developmental delay; Neonatal hypotonia; Nail dysplasia 1 0 0 0 0 0 1
Corpus callosum, agenesis of; Imperforate anus; Global developmental delay; Abnormal facial shape; Broad thumb; Intellectual disability 1 0 0 0 0 0 1
Corpus callosum, agenesis of; Microcephaly; Epileptic encephalopathy 0 0 1 0 0 0 1
Cortical dysplasia-focal epilepsy syndrome 0 1 0 0 0 0 1
Cortical tubers 0 1 0 0 0 0 1
Cortical tubers; Adenoma sebaceum 0 1 0 0 0 0 1
Craniolenticulosutural dysplasia 0 1 0 0 0 0 1
Craniometaphyseal dysplasia, autosomal dominant 0 1 0 0 0 0 1
Craniosynostosis syndrome; Seizure; Fetal growth restriction; Atypical behavior; Self-injurious behavior; Scoliosis; Abnormal facial shape; Absent speech; Microcephaly; Difficulty walking; Intellectual disability, severe 0 1 0 0 0 0 1
Craniosynostosis syndrome; Short stature; Sparse and thin eyebrow; Hyperextensible skin; High pitched voice; Mitral valve prolapse; Sparse hair 0 1 0 0 0 0 1
Creatine transporter deficiency 0 0 1 0 0 0 1
Crouzon syndrome; Seizure; Unilateral renal agenesis; Facial asymmetry; Generalized non-motor (absence) seizure; Coronal craniosynostosis; Infantile axial hypotonia 1 0 0 0 0 0 1
Cryohydrocytosis 0 1 0 0 0 0 1
Cryptorchidism; Fetal growth restriction; Pulmonary hypoplasia; Single umbilical artery; Penile hypospadias; Microretrognathia; Long philtrum; Congenital diaphragmatic hernia; Right ventricular hypertrophy 0 1 0 0 0 0 1
Cryptorchidism; Global developmental delay; Macrocephaly; Generalized hypotonia 0 0 1 0 0 0 1
Cryptorchidism; Hypertelorism; Clubfoot; Tapered finger; Abnormal facial shape; Short nose; Intellectual disability; Short distal phalanx of toe; Neuropathic spinal arthropathy 0 1 0 0 0 0 1
Cryptorchidism; Hypertrichosis; Global developmental delay; Hypothyroidism; Abnormal facial shape; Absent speech; Penile hypospadias; Hypotonia 0 0 1 0 0 0 1
Cutaneous photosensitivity; Porphyrinuria 0 0 1 0 0 0 1
Cutis laxa; Papule 1 0 0 0 0 0 1
Cystinuria 0 1 0 0 0 0 1
Cytochrome-c oxidase deficiency disease 0 1 0 0 0 0 1
D-2-hydroxyglutaric aciduria 2 0 0 1 0 0 0 1
Danon disease 0 0 1 0 0 0 1
Decreased activity of the pyruvate dehydrogenase complex 0 1 0 0 0 0 1
Decreased nerve conduction velocity; Distal muscle weakness; Hand muscle atrophy; Peripheral demyelination; Peripheral neuropathy 1 0 0 0 0 0 1
Decreased nerve conduction velocity; Sensory neuropathy; Pes cavus; Distal muscle weakness; Distal lower limb amyotrophy 0 1 0 0 0 0 1
Decreased nerve conduction velocity; Sensory neuropathy; Pes cavus; Hammertoe; Distal muscle weakness 0 1 0 0 0 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 1 0 0 0 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 0 0 1
Deficiency of alpha-mannosidase 0 1 0 0 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 1 0 0 0 0 1
Deficiency of butyryl-CoA dehydrogenase 1 0 0 0 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 0 0 1 0 1
Delayed speech and language development; Delayed gross motor development; Loss of ambulation 1 0 0 0 0 0 1
Delayed speech and language development; Proximal placement of thumb; Long face; Delayed gross motor development 1 0 0 0 0 0 1
Dementia 1 0 0 0 0 0 1
Dental crowding; Arachnodactyly; Dolichocephaly; Joint hypermobility; Aortic regurgitation; High, narrow palate 0 0 1 0 0 0 1
Dental enamel pits; Hamartoma 1 0 0 0 0 0 1
Dentinogenesis imperfecta type 2 0 0 1 0 0 0 1
Dermatofibrosis lenticularis disseminata 1 0 0 0 0 0 1
Deuteranomaly 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 17 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 19 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 30 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 34 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 35 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 39 0 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 43 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 50 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 60 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 74 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 77 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 8 0 0 1 0 0 0 1
Developmental cataract 0 1 0 0 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 0 1 0 0 0 1
Developmental delay; dystrophia 1 0 0 0 0 0 1
Diamond-Blackfan anemia 10 1 0 0 0 0 0 1
Diamond-Blackfan anemia 13 0 1 0 0 0 0 1
Dicarboxylic aminoaciduria 0 0 1 0 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 0 0 1
Dilated cardiomyopathy 1CC 0 0 1 0 0 0 1
Distal arthrogryposis; Calcaneovalgus deformity; Ulnar deviation of the wrist; Congenital finger flexion contractures 1 0 0 0 0 0 1
Distal lower limb muscle weakness 0 1 0 0 0 0 1
Distal muscle weakness; Peripheral axonal neuropathy; Distal lower limb amyotrophy 0 1 0 0 0 0 1
Downslanted palpebral fissures; Proteinuria; Kidney damage; Hematuria 1 0 0 0 0 0 1
Duane retraction syndrome 2 0 0 1 0 0 0 1
Duane-radial ray syndrome 0 0 1 0 0 0 1
Dubin-Johnson syndrome 0 0 1 0 0 0 1
Duodenal stenosis 0 1 0 0 0 0 1
Dysarthria; Dysphagia; Bowel incontinence; Difficulty walking; Progressive muscle weakness; Spastic paraplegia 0 0 1 0 0 0 1
Dyskeratosis congenita, X-linked 0 1 0 0 0 0 1
Dyskeratosis congenita, autosomal dominant 3 0 0 0 0 1 0 1
Dyskinesia with orofacial involvement, autosomal dominant 0 0 1 0 0 0 1
Dyssynergia 0 0 1 0 0 0 1
Dystonia 16 0 0 0 0 1 0 1
Dystonia 24 0 0 1 0 0 0 1
Dystonia 5 1 0 0 0 0 0 1
Dystonic disorder; Generalized dystonia 0 0 1 0 0 0 1
Dystonic disorder; Mental deterioration 0 0 1 0 0 0 1
Dystonic disorder; Motor delay; Aplasia/Hypoplasia of the corpus callosum; Dyskinesia; Progressive microcephaly; Global brain atrophy; Intellectual disability, severe; Severe global developmental delay 1 0 0 0 0 0 1
Dystonic disorder; Myoclonus 0 0 1 0 0 0 1
Dystonic disorder; Nystagmus; Inability to walk 0 1 0 0 0 0 1
EEM syndrome 0 1 0 0 0 0 1
EMG abnormality; EMG: myotonic runs 0 0 1 0 0 0 1
Ear malformation; Failure to thrive; Hypotelorism; High palate; Pes planus; Hypernasal speech; Delayed speech and language development; Triangular face; Intellectual disability, mild; Generalized hypotonia; Leukopenia; Normocytic anemia; Clinodactyly; Attention deficit hyperactivity disorder 1 0 0 0 0 0 1
Ectodermal dysplasia 1 0 0 0 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, periodontal type 1 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 1 0 0 0 0 1
Elevated circulating creatine kinase concentration; Atrial septal defect 1 0 0 0 0 0 1
Elevated circulating creatine kinase concentration; Lower limb muscle weakness; Distal lower limb amyotrophy 1 0 0 0 0 0 1
Elevated circulating creatine kinase concentration; Muscle weakness; Ptosis; Hypomimic face; Hepatic steatosis; EMG abnormality; EMG: myopathic abnormalities; EMG: myotonic runs; Progressive proximal muscle weakness 0 0 1 0 0 0 1
Elevated circulating creatine kinase concentration; Progressive proximal muscle weakness 0 1 0 0 0 0 1
Elevated circulating creatine kinase concentration; Sensory neuropathy; Polyneuropathy; Elevated circulating alkaline phosphatase concentration; Peripheral axonal neuropathy 1 0 0 0 0 0 1
Encephalitis; Episodic vomiting; Recurrent fever; Myocarditis 0 1 0 0 0 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 1 0 0 0 0 1
Epicanthus; Global developmental delay; Stereotypic movement disorder; Anteverted nares; Feeding difficulties in infancy; Short nose; Drooling 1 0 0 0 0 0 1
Epicanthus; Hypertelorism; Esotropia; High palate; Low-set ears; EEG abnormality; Iris coloboma; Nystagmus; Microphthalmia; Short neck; Amblyopia; Abnormality of visual evoked potentials; Lens subluxation 1 0 0 0 0 0 1
Epicanthus; Seizure; Depressed nasal bridge; Abnormal earlobe morphology; Ventriculomegaly 1 0 0 0 0 0 1
Epicanthus; Telecanthus; Blepharophimosis; Renal hypoplasia; Abnormal facial shape; Bulbous nose; Vesicoureteral reflux; Hypoplasia of the maxilla; Intellectual disability; Poor speech 0 1 0 0 0 0 1
Epidermal nevus 0 0 1 0 0 0 1
Epidermolysis bullosa simplex 1C, localized 0 0 1 0 0 0 1
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 0 0 1 0 0 0 1
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 1 0 0 0 0 0 1
Epilepsy, familial focal, with variable foci 2 0 1 0 0 0 0 1
Epilepsy, familial focal, with variable foci 3 0 0 1 0 0 0 1
Epilepsy, familial focal, with variable foci 4 0 1 0 0 0 0 1
Epilepsy, familial temporal lobe, 1 0 0 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 10 0 0 1 0 0 0 1
Epilepsy; Developmental delay; autistic features 1 0 0 0 0 0 1
Epilepsy; Hemiplegia 1 0 0 0 0 0 1
Epileptic encephalopathy, infantile or early childhood, 1 0 1 0 0 0 0 1
Epileptic encephalopathy, infantile or early childhood, 2 0 0 1 0 0 0 1
Epileptic encephalopathy; Developmental delay 0 1 0 0 0 0 1
Epiphyseal dysplasia, multiple, 2 0 0 1 0 0 0 1
Epiphyseal dysplasia, multiple, 3 0 1 0 0 0 0 1
Erythrokeratodermia variabilis et progressiva 1 0 0 1 0 0 0 1
Essential hypertension 0 0 1 0 0 0 1
Ethylmalonic encephalopathy 0 1 0 0 0 0 1
Even-plus syndrome 1 0 0 0 0 0 1
Ewing sarcoma 0 0 0 0 1 0 1
Exostoses, multiple, type 2 0 0 1 0 0 0 1
Exudative retinopathy; Retinal detachment; Cataract; Nystagmus; Blindness; Rod-cone dystrophy; Progressive visual loss; Retinal exudate; Abnormality of retinal pigmentation; Monocular strabismus; Optic disc drusen 1 0 0 0 0 0 1
Exudative vitreoretinopathy 5 0 1 0 0 0 0 1
Exudative vitreoretinopathy 6 0 1 0 0 0 0 1
Factor XII deficiency disease 1 0 0 0 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 1 0 0 0 0 0 1
Familial acute necrotizing encephalopathy 0 0 1 0 0 0 1
Familial adenomatous polyposis 1 1 0 0 0 0 0 1
Familial adenomatous polyposis 2 1 0 0 0 0 0 1
Familial adenomatous polyposis 3 0 0 1 0 0 0 1
Familial episodic pain syndrome with predominantly upper body involvement 0 0 1 0 0 0 1
Familial hyperaldosteronism type III 0 0 1 0 0 0 1
Familial hyperthyroidism due to mutations in TSH receptor 1 0 0 0 0 0 1
Familial isolated deficiency of vitamin E 1 0 0 0 0 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 1 0 0 0 0 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 0 0 0 1 0 1
Familial temporal lobe epilepsy 8 0 0 1 0 0 0 1
Fanconi anemia complementation group A 1 0 0 0 0 0 1
Fanconi anemia complementation group C 0 0 1 0 0 0 1
Fanconi anemia complementation group E 0 0 0 0 1 0 1
Fanconi anemia complementation group P 0 0 1 0 0 0 1
Fanconi anemia complementation group Q 0 0 1 0 0 0 1
Febrile seizure (within the age range of 3 months to 6 years); Hepatosplenomegaly 0 0 1 0 0 0 1
Febrile seizure (within the age range of 3 months to 6 years); Macrocephaly; Ventriculomegaly; Myocarditis 0 0 1 0 0 0 1
Fetal akinesia deformation sequence 3 0 0 0 0 1 0 1
Fetal megacystis; Ventricular septal defect; Atresia of urethra 0 1 0 0 0 0 1
Fever; Pericardial effusion; Pleural effusion 0 1 0 0 0 0 1
Flexion contracture 0 1 0 0 0 0 1
Floating-Harbor syndrome 0 0 1 0 0 0 1
Focal segmental glomerulosclerosis 1 0 0 1 0 0 0 1
Focal segmental glomerulosclerosis 3, susceptibility to 0 1 0 0 0 0 1
Foot dorsiflexor weakness; Peroneal muscle atrophy; Distal lower limb muscle weakness; Absent muscle fiber dysferlin 1 0 0 0 0 0 1
Fragile X syndrome 0 0 0 0 1 0 1
Fraser syndrome 1 0 0 1 0 0 0 1
Fraser syndrome 2 0 0 1 0 0 0 1
Fraser syndrome 3 0 0 1 0 0 0 1
Frontotemporal dementia 0 1 0 0 0 0 1
Frontotemporal dementia; Memory impairment; Mental deterioration 1 0 0 0 0 0 1
Frontotemporal dementia; Parkinsonian disorder; Rigidity; Brain atrophy 0 0 1 0 0 0 1
GAPO syndrome 0 0 1 0 0 0 1
GM1 gangliosidosis type 3 0 1 0 0 0 0 1
GNE myopathy 0 0 1 0 0 0 1
Gabriele de Vries syndrome 0 0 1 0 0 0 1
Gamma-glutamylcysteine synthetase deficiency 0 0 1 0 0 0 1
Gastric polyposis; Duodenal polyposis; Adenomatous colonic polyposis; Intestinal polyp; Hyperplastic colonic polyposis 1 0 0 0 0 0 1
Gastrointestinal carcinoma; Adrenal cortex carcinoma 0 0 1 0 0 0 1
Gastrointestinal stromal tumor; Parathyroid gland adenoma; Thyroid adenoma; Chronic diarrhea; Diabetes mellitus; Hypertensive disorder 1 0 0 0 0 0 1
Gaze palsy, familial horizontal, with progressive scoliosis, 2 0 0 1 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 9 0 0 1 0 0 0 1
Generalized hypopigmentation; Basal cell carcinoma 1 0 0 0 0 0 1
Generalized hypotonia 0 1 0 0 0 0 1
Generalized hypotonia; Severe global developmental delay; Epileptic encephalopathy 0 1 0 0 0 0 1
Generalized non-motor (absence) seizure; Abnormal brainstem MRI signal intensity 0 0 1 0 0 0 1
Geroderma osteodysplastica 0 0 1 0 0 0 1
Giant axonal neuropathy 2 0 0 1 0 0 0 1
Glaucoma 1, open angle, A 0 1 0 0 0 0 1
Glaucoma; Visual loss; Polymorphous corneal dystrophy 1 0 0 0 0 0 1
Global developmental delay; Abnormal facial shape 0 0 1 0 0 0 1
Global developmental delay; Abnormal facial shape; Generalized hypotonia 1 0 0 0 0 0 1
Global developmental delay; Abnormal facial shape; Polymicrogyria; Difficulty walking 1 0 0 0 0 0 1
Global developmental delay; Absent speech; Developmental regression; Abnormal cerebral white matter morphology; Epileptic encephalopathy; Hypotonia 0 0 1 0 0 0 1
Global developmental delay; Absent speech; Difficulty walking; Thoracic scoliosis 0 0 1 0 0 0 1
Global developmental delay; Autistic behavior 0 0 1 0 0 0 1
Global developmental delay; Axial hypotonia; Delayed speech and language development; Strabismus; Horizontal nystagmus; Generalized hypotonia; Infantile spasms 1 0 0 0 0 0 1
Global developmental delay; Cerebral hypoplasia 1 0 0 0 0 0 1
Global developmental delay; Choreoathetosis; Leukoencephalopathy; Febrile seizure (within the age range of 3 months to 6 years) 0 1 0 0 0 0 1
Global developmental delay; Clinodactyly of the 5th finger; Abnormality of the dentition; Macrocephaly; Dolichocephaly; Cleft palate 1 0 0 0 0 0 1
Global developmental delay; Cognitive impairment; Delayed speech and language development; Delayed gross motor development; Delayed fine motor development; Abnormal emotion 0 0 1 0 0 0 1
Global developmental delay; Developmental regression 1 0 0 0 0 0 1
Global developmental delay; Enlarged cisterna magna 0 1 0 0 0 0 1
Global developmental delay; Expressive language delay; Seizure; Abnormal corpus callosum morphology; EEG abnormality; Poor speech 1 0 0 0 0 0 1
Global developmental delay; Expressive language delay; Seizure; Abnormal facial shape; Absent speech; Microcephaly; Ventriculomegaly 0 1 0 0 0 0 1
Global developmental delay; Fetal growth restriction; Abnormal facial shape; Delayed speech and language development; Microcephaly; Sparse scalp hair 1 0 0 0 0 0 1
Global developmental delay; Generalized hypotonia 0 0 1 0 0 0 1
Global developmental delay; Hemiplegia; Oculogyric crisis 1 0 0 0 0 0 1
Global developmental delay; Hirsutism; Hypertonia; Microcephaly; Progressive sensorineural hearing impairment; Abnormal heart valve morphology 1 0 0 0 0 0 1
Global developmental delay; Hyperactivity; Seizure; Intellectual disability, profound 0 0 1 0 0 0 1
Global developmental delay; Hypertonia; Amblyopia 1 0 0 0 0 0 1
Global developmental delay; Hypoplasia of the corpus callosum; Microcephaly; Pachygyria; Infantile spasms 0 0 1 0 0 0 1
Global developmental delay; Intellectual disability; Generalized hypotonia 1 0 0 0 0 0 1
Global developmental delay; Long palpebral fissure; Delayed speech and language development; Strabismus; Prominent fingertip pads; Bilateral tonic-clonic seizure; Generalized non-motor (absence) seizure; Generalized-onset seizure; Hand tremor; Frontal cortical atrophy; Temporal cortical atrophy 1 0 0 0 0 0 1
Global developmental delay; Macrocephaly; Generalized hypotonia 0 1 0 0 0 0 1
Global developmental delay; Microcephaly 1 0 0 0 0 0 1
Global developmental delay; Micrognathia; Abnormal facial shape; Microcephaly; Downturned corners of mouth; Speech articulation difficulties; Hyperplasia of midface 0 1 0 0 0 0 1
Global developmental delay; Motor delay; Atypical behavior; Delayed speech and language development 0 1 0 0 0 0 1
Global developmental delay; Motor delay; Delayed speech and language development; Macrocephaly; Dolichocephaly; Thick vermilion border; Hypotonia 1 0 0 0 0 0 1
Global developmental delay; Motor delay; Polymicrogyria; Hypotonia 0 1 0 0 0 0 1
Global developmental delay; Motor delay; Seizure; High palate; Abnormal facial shape; Abnormal pinna morphology; Bilateral tonic-clonic seizure; Prominent forehead; Limb tremor 1 0 0 0 0 0 1
Global developmental delay; Polymicrogyria; Macrocephaly; Capillary hemangioma 0 1 0 0 0 0 1
Global developmental delay; Polymicrogyria; Microcephaly 0 0 1 0 0 0 1
Global developmental delay; Ptosis; Clinodactyly of the 5th finger; Conductive hearing impairment; Intellectual disability; Short foot; Short palm; Unilateral cryptorchidism 0 1 0 0 0 0 1
Global developmental delay; Scoliosis 0 1 0 0 0 0 1
Global developmental delay; Seizure; Absent speech 0 0 1 0 0 0 1
Global developmental delay; Seizure; Delayed speech and language development; Microcephaly; Delayed gross motor development 0 1 0 0 0 0 1
Global developmental delay; Seizure; Hypoglycemia 0 0 1 0 0 0 1
Global developmental delay; Seizure; Hypoplasia of the corpus callosum; Absent speech; Delayed speech and language development; Delayed gross motor development 1 0 0 0 0 0 1
Global developmental delay; Seizure; Short stature; Abnormal facial shape; Intellectual disability 1 0 0 0 0 0 1
Global developmental delay; Seizure; Stereotypic movement disorder; Delayed speech and language development; Generalized hypotonia; Bruxism; Stereotypical hand wringing; Stereotypical body rocking 1 0 0 0 0 0 1
Global developmental delay; Single transverse palmar crease; Facial asymmetry; Strabismus; Ventricular septal defect 0 0 0 1 0 0 1
Global developmental delay; Stereotypic movement disorder; Delayed speech and language development; Preauricular skin tag; Generalized hypotonia 0 1 0 0 0 0 1
Global developmental delay; Strabismus; Generalized hypotonia 0 1 0 0 0 0 1
Glomuvenous malformation 1 0 0 0 0 0 1
Glucocorticoid deficiency with achalasia 1 0 0 0 0 0 1
Glycogen storage disease IXb 1 0 0 0 0 0 1
Glycogen storage disease due to muscle beta-enolase deficiency 0 0 1 0 0 0 1
Glycogen storage disease, type VI 0 1 0 0 0 0 1
Gonadotropin-independent familial sexual precocity 0 0 1 0 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 0 1 0 0 0 1
Hand oligodactyly; Palpitations; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the phalanges of the hand 0 0 1 0 0 0 1
Hand tremor; Kayser-Fleischer ring 0 1 0 0 0 0 1
Harel-Yoon syndrome 0 0 1 0 0 0 1
Hearing impairment; Bilateral conductive hearing impairment 1 0 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment 1 0 0 0 0 0 1
Hearing impairment; Generalized hypotonia 0 0 1 0 0 0 1
Hearing impairment; Proteinuria; Hematuria 0 0 1 0 0 0 1
Hearing impairment; Pulmonary artery atresia; Retinal coloboma; Chorioretinal coloboma 1 0 0 0 0 0 1
Hearing impairment; Scoliosis; High palate; Tall stature; Arachnodactyly; Delayed speech and language development; Dolichocephaly; Long face; Joint hypermobility; Mitral valve prolapse 0 0 1 0 0 0 1
Hearing impairment; Steppage gait; Peripheral axonal neuropathy; Foot dorsiflexor weakness 1 0 0 0 0 0 1
Hearing impairment; Unsteady gait; Pes planus; Pes cavus; Impaired vibration sensation in the lower limbs; Loss of ambulation; Pain 1 0 0 0 0 0 1
Hearing loss, autosomal recessive 57 0 0 1 0 0 0 1
Heart block; Hypertrophic cardiomyopathy; Tachycardia; Asymmetric septal hypertrophy; Dyspnea; Premature ventricular contraction; Noncompaction cardiomyopathy 1 0 0 0 0 0 1
Heart, malformation of; Sinus bradycardia; Ventricular hypertrophy; Prolonged QTc interval; Left ventricular noncompaction cardiomyopathy; Abnormal trabecular meshwork morphology 0 0 1 0 0 0 1
Hematuria 0 0 1 0 0 0 1
Hematuria; Microscopic hematuria 0 1 0 0 0 0 1
Hemimegalencephaly 0 0 1 0 0 0 1
Hemiparesis; Headache; Dysphasia 0 0 1 0 0 0 1
Hemochromatosis type 1 1 0 0 0 0 0 1
Hemolytic anemia 1 0 0 0 0 0 1
Hemolytic anemia; Decreased glucosephosphate isomerase level 0 0 1 0 0 0 1
Heparin cofactor II deficiency 0 0 1 0 0 0 1
Hepatic cysts; Pancreatic cysts; Multiple renal cysts 0 1 0 0 0 0 1
Hepatomegaly; Immunodeficiency; Recurrent respiratory infections; Splenomegaly; Neutropenia; Leukopenia 0 1 0 0 0 0 1
Hereditary fructosuria 1 0 0 0 0 0 1
Hereditary hearing loss and deafness 1 0 0 0 0 0 1
Hereditary insensitivity to pain with anhidrosis 1 0 0 0 0 0 1
Hereditary nonpolyposis colorectal carcinoma 0 0 1 0 0 0 1
Hereditary palmoplantar keratoderma; Bicuspid aortic valve 0 1 0 0 0 0 1
Hereditary palmoplantar keratoderma; Diffuse palmoplantar hyperkeratosis 0 1 0 0 0 0 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 0 1 0 0 0 1
Hereditary spastic paraplegia 26 0 0 0 0 1 0 1
Hereditary spastic paraplegia 42 0 0 0 0 1 0 1
Hereditary spastic paraplegia 44 0 1 0 0 0 0 1
Hereditary spastic paraplegia 54 0 1 0 0 0 0 1
Hereditary spastic paraplegia 55 0 0 1 0 0 0 1
Hereditary spastic paraplegia 5A 1 0 0 0 0 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0 0 0 0 1 0 1
Hermansky-Pudlak syndrome 1 1 0 0 0 0 0 1
Hermansky-Pudlak syndrome 3 1 0 0 0 0 0 1
Heterochromia iridis; Prelingual sensorineural hearing impairment; Poliosis 1 0 0 0 0 0 1
Heterotopia, periventricular, X-linked dominant 0 0 1 0 0 0 1
High palate; Arachnodactyly; Lens subluxation; Aortic dissection 1 0 0 0 0 0 1
High palate; Disproportionate tall stature; Mitral valve prolapse; Lumbar scoliosis; Myxomatous mitral valve degeneration 1 0 0 0 0 0 1
High palate; Ventriculomegaly; Multiple joint contractures; Lower-limb joint contracture; Joint contracture of the hand; Ventricular septal defect; Hydrops fetalis 0 0 1 0 0 0 1
Horizontal nystagmus; Hypopigmentation of the skin; Hypopigmentation of hair; Iris transillumination defect 1 0 0 0 0 0 1
Hydrocele testis; Multiple renal cysts 0 0 1 0 0 0 1
Hydrocephalus, congenital, 3, with brain anomalies 0 0 1 0 0 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 1 0 0 1 0 0 0 1
Hyperactivity; Delayed speech and language development; Microcephaly 1 0 0 0 0 0 1
Hyperactivity; Febrile seizure (within the age range of 3 months to 6 years); Visual loss; Cafe-au-lait spot; Strabismus; Abnormality of vision; Abnormal electroretinogram; Abnormal macular morphology; Abnormality of macular pigmentation; EEG with generalized slow activity 0 0 1 0 0 0 1
Hyperactivity; Seizure; Deeply set eye; Intellectual disability; Poor speech; Secondary microcephaly; Exostoses 0 0 1 0 0 0 1
Hyperactivity; Seizure; Focal-onset seizure; Gait imbalance 0 0 0 1 0 0 1
Hyperammonemia, type III 1 0 0 0 0 0 1
Hyperbilirubinemia; Angioedema; Hypertensive disorder; Urticaria 1 0 0 0 0 0 1
Hypercalcemia, infantile, 1 0 0 1 0 0 0 1
Hyperextensible skin; Cigarette-paper scars; Atrophic scars; Joint hypermobility; Large joint dislocations 0 1 0 0 0 0 1
Hyperimmunoglobulin D with periodic fever 0 1 0 0 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 0 1 0 0 0 1
Hyperkalemia; Low-molecular-weight proteinuria; Multiple small medullary renal cysts 0 1 0 0 0 0 1
Hyperlipidemia due to hepatic triglyceride lipase deficiency 0 0 1 0 0 0 1
Hyperlipidemia, familial combined, LPL related 1 0 0 0 0 0 1
Hypermetropia; Abnormality of vision; Pigmentary retinopathy; Decreased light- and dark-adapted electroretinogram amplitude; Abnormality of retinal pigmentation; Macular dystrophy; Adult-onset night blindness 0 0 1 0 0 0 1
Hyperparathyroidism 1 1 0 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 2 0 1 0 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 3 0 0 1 0 0 0 1
Hyperreflexia; Clonus; Lower limb hyperreflexia; Spastic paraplegia 0 1 0 0 0 0 1
Hyperreflexia; Clonus; Neonatal hypotonia; Abnormal upper motor neuron morphology; Abnormal basal ganglia morphology; Developmental regression; Abnormal cerebral white matter morphology 0 1 0 0 0 0 1
Hyperreflexia; Spastic paraparesis; Babinski sign 1 0 0 0 0 0 1
Hypertelorism; Frontal bossing; Facial asymmetry 1 0 0 0 0 0 1
Hypertelorism; Global developmental delay; Scoliosis; Hypoplasia of the corpus callosum; Delayed speech and language development; Delayed gross motor development; High anterior hairline 0 1 0 0 0 0 1
Hypertelorism; High palate; Low-set ears; Cranial asymmetry; Abnormal pinna morphology; Downslanted palpebral fissures; Flat occiput; Narrow forehead; Short neck; Hydrocephalus; Brachyturricephaly; Wide anterior fontanel; Facial asymmetry; High forehead; Choanal stenosis; Shallow orbits; Abnormal posterior cranial fossa morphology; Deviated nasal septum; Lateral ventricle dilatation; Hypointensity of cerebral white matter on MRI; Abnormal zygomatic bone morphology; Mild fetal ventriculomegaly 0 1 0 0 0 0 1
Hypertelorism; Micrognathia; Low-set ears; Deep philtrum; Specific learning disability; Triangular face; Low anterior hairline; Mitral valve prolapse; Gastroesophageal reflux; Low posterior hairline; Abnormality of the lower limb; Thoracolumbar scoliosis; Clinodactyly; Ventricular septal defect 0 1 0 0 0 0 1
Hypertelorism; Sensorineural hearing loss disorder; Seizure; High palate; Brachycephaly; Hypoplasia of the corpus callosum; Absent speech; Anteverted nares; Wide mouth; Microcephaly; Strabismus; Decreased lacrimation; Generalized hypotonia; Abnormality of the nail; Downturned corners of mouth; Inability to walk by childhood/adolescence; Severe global developmental delay 1 0 0 0 0 0 1
Hypertelorism; Skeletal dysplasia; Cranial asymmetry; Pathologic fracture; Abnormal pinna morphology; Anteverted nares; Blue sclerae; Broad forehead; Depressed nasal bridge; Downslanted palpebral fissures; Flat occiput; Premature birth; Triangular face; Wide anterior fontanel; Low-set, posteriorly rotated ears; Osteopenia; Generalized hypotonia; Bowing of limbs due to multiple fractures; Fractures of the long bones; Craniofacial disproportion; Decreased calvarial ossification; Crumpled long bones; Maternal hypertension; Rhizomelia; Neonatal short-limb short stature; Wide cranial sutures; Neonatal asphyxia 1 0 0 0 0 0 1
Hypertelorism; Telecanthus; Megalocornea; Abnormal facial shape; Myopia; Short nose; Hypoplasia of the maxilla; Cleft palate 0 1 0 0 0 0 1
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border 1 0 0 0 0 0 1
Hypertelorism; Upslanted palpebral fissure; Clinodactyly of the 5th finger; Opacification of the corneal stroma; Bifid nasal tip 0 0 1 0 0 0 1
Hypertrichosis; Global developmental delay; Bilateral cryptorchidism; Delayed speech and language development; Intellectual disability; Abnormality of speech or vocalization 0 1 0 0 0 0 1
Hypertrichosis; Global developmental delay; Feeding difficulties; Abnormal corpus callosum morphology; Delayed speech and language development; Glabellar hemangioma; Small for gestational age; Delayed gross motor development; Prominent metopic ridge; Intellectual disability, severe 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 12 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 18 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy; Dyspnea 0 1 0 0 0 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 1 0 0 0 0 1
Hypogonadotropic hypogonadism 11 with or without anosmia 0 0 0 0 1 0 1
Hypogonadotropic hypogonadism 15 with or without anosmia 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 19 with or without anosmia 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 4 with or without anosmia 1 0 0 0 0 0 1
Hypogonadotropic hypogonadism 6 with or without anosmia 0 0 1 0 0 0 1
Hypogonadotropic hypogonadism 9 with or without anosmia 0 0 1 0 0 0 1
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 0 1 0 0 0 0 1
Hypomimic face; Parkinsonian disorder; Resting tremor; Thoracolumbar scoliosis; Movement disorder 0 0 0 0 0 1 1
Hypomyelinating leukodystrophy 11 1 0 0 0 0 0 1
Hypomyelinating leukodystrophy 4 0 0 0 1 0 0 1
Hypomyelinating leukodystrophy 9 0 1 0 0 0 0 1
Hypoparathyroidism, deafness, renal disease syndrome 1 0 0 0 0 0 1
Hypophosphatemic rickets, autosomal recessive, 1 0 0 0 0 1 0 1
Hypophosphatemic rickets, autosomal recessive, 2 0 0 0 0 1 0 1
Hypopigmentation, organomegaly, and delayed myelination and development 0 0 1 0 0 0 1
Hypoplasia of the maxilla; Achilles tendon contracture; Myotonia; Lumbar hyperlordosis; Skeletal muscle hypertrophy 0 1 0 0 0 0 1
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 0 0 0 1 0 0 1
Hypotelorism; Low-set ears; Hypertonia; Nystagmus; Pointed chin; Protruding ear; Horizontal nystagmus; Anxiety; Phonophobia 0 1 0 0 0 0 1
Hypotonia with lactic acidemia and hyperammonemia 1 0 0 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 0 0 0 1
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 0 0 1 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 1 0 0 0 0 1
Idiopathic hypereosinophilic syndrome 0 0 1 0 0 0 1
Iminoglycinuria 0 0 1 0 0 0 1
Immunodeficiency 14 0 0 1 0 0 0 1
Immunodeficiency 31B 0 0 1 0 0 0 1
Immunodeficiency 47 0 0 1 0 0 0 1
Immunoglobulin A deficiency 2 1 0 0 0 0 0 1
Immunoglobulin-mediated membranoproliferative glomerulonephritis 1 0 0 0 0 0 1
Imperforate anus; Global developmental delay; Absent speech; Microcephaly; Teratoma 0 1 0 0 0 0 1
Inborn mitochondrial myopathy; Hypertrophic cardiomyopathy; Abnormality of mitochondrial metabolism; Mitochondrial respiratory chain defects 1 0 0 0 0 0 1
Incontinentia pigmenti syndrome 1 0 0 0 0 0 1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 1 0 0 0 0 1
Inflammatory bowel disease 25 0 0 1 0 0 0 1
Inguinal hernia; Cataract; Abnormally lax or hyperextensible skin; Soft skin; Bruising susceptibility; Mitral valve prolapse; Gastroesophageal reflux; Pneumothorax; Difficulty walking; Patellar dislocation; Constrictive median neuropathy; Pain; Congenital hip dislocation 0 1 0 0 0 0 1
Intellectual developmental disorder 61 0 0 1 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 0 1 0 0 0 1
Intellectual developmental disorder with severe speech and ambulation defects 0 0 1 0 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 0 1 0 0 0 1
Intellectual developmental disorder, autosomal recessive 67 0 1 0 0 0 0 1
Intellectual disability, FRA12A type 0 0 1 0 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 0 0 1
Intellectual disability, X-linked 105 0 0 1 0 0 0 1
Intellectual disability, X-linked 106 0 0 1 0 0 0 1
Intellectual disability, X-linked 41 0 0 1 0 0 0 1
Intellectual disability, X-linked 63 0 0 1 0 0 0 1
Intellectual disability, X-linked 90 0 0 1 0 0 0 1
Intellectual disability, X-linked 97 0 0 1 0 0 0 1
Intellectual disability, X-linked, syndromic, 35 0 0 1 0 0 0 1
Intellectual disability, X-linked, with or without seizures, arx-related 0 0 0 1 0 0 1
Intellectual disability, autosomal dominant 10 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 11 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 20 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 33 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 38 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 39 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 56 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 58 0 0 1 0 0 0 1
Intellectual disability, autosomal recessive 61 0 1 0 0 0 0 1
Intellectual disability, autosomal recessive 66 0 1 0 0 0 0 1
Intellectual disability, autosomal recessive 7 1 0 0 0 0 0 1
Intellectual disability, moderate 0 0 1 0 0 0 1
Intellectual disability, moderate; Macular dystrophy 1 0 0 0 0 0 1
Intellectual disability, severe; Infantile spasms 1 0 0 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 1 0 0 0 1
Ischemic stroke; Arachnodactyly; Aortic root aneurysm; Dissecting aortic dilatation; Melanoma; High myopia; Ectopia lentis 1 0 0 0 0 0 1
Ischemic stroke; Transient ischemic attack 1 0 0 0 0 0 1
Isolated agenesis of gallbladder; Double outlet right ventricle; Bilateral cleft palate; Ventricular septal defect 0 0 1 0 0 0 1
Isolated congenital digital clubbing 1 0 0 0 0 0 1
Isolated focal non-epidermolytic palmoplantar keratoderma 0 1 0 0 0 0 1
Isolated microphthalmia 6 0 1 0 0 0 0 1
Isovaleryl-CoA dehydrogenase deficiency 0 0 1 0 0 0 1
Jervell and Lange-Nielsen syndrome 2 0 0 1 0 0 0 1
Joint hypermobility 0 0 1 0 0 0 1
Joint hypermobility; Reduced bone mineral density 1 0 0 0 0 0 1
Joubert syndrome 21 1 0 0 0 0 0 1
Juvenile cataract-microcornea-renal glucosuria syndrome 0 0 1 0 0 0 1
Kabuki syndrome 2 0 0 1 0 0 0 1
Kyphoscoliosis; High palate; Tall stature; Bilateral cryptorchidism; Vascular dilatation; Joint hypermobility; Mitral valve prolapse; Deep venous thrombosis; Thromboembolism 1 0 0 0 0 0 1
L-2-hydroxyglutaric aciduria 1 0 0 0 0 0 1
Lafora disease 0 0 1 0 0 0 1
Lamb-Shaffer syndrome 0 1 0 0 0 0 1
Language disorder; Dysarthria; Parkinsonian disorder 0 0 1 0 0 0 1
Leber congenital amaurosis 3 0 0 1 0 0 0 1
Leber congenital amaurosis 5 0 0 1 0 0 0 1
Leber congenital amaurosis 6 1 0 0 0 0 0 1
Leber congenital amaurosis 9 0 0 0 1 0 0 1
Leber congenital amaurosis with early-onset deafness 0 0 1 0 0 0 1
Left ventricular hypertrophy 0 0 1 0 0 0 1
Legg-Calve-Perthes disease; Juvenile osteochondrosis of spine 0 1 0 0 0 0 1
Legius syndrome 1 0 0 0 0 0 1
Lenz-Majewski hyperostosis syndrome 0 0 1 0 0 0 1
Leprechaunism syndrome 0 0 1 0 0 0 1
Lesch-Nyhan syndrome 1 0 0 0 0 0 1
Lethal congenital contracture syndrome 8 0 0 1 0 0 0 1
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 0 1 0 0 0 1
Lethal osteosclerotic bone dysplasia 0 0 1 0 0 0 1
Leukocyte adhesion deficiency 1 0 1 0 0 0 0 1
Leukodystrophy, hypomyelinating, 14 1 0 0 0 0 0 1
Leukoencephalopathy 0 0 1 0 0 0 1
Levy-Hollister syndrome 0 0 1 0 0 0 1
Limb-girdle muscle weakness; Limb-girdle muscle atrophy 0 0 1 0 0 0 1
Limb-mammary syndrome 0 0 1 0 0 0 1
Lip telangiectasia; Oral cavity telangiectasia; Spontaneous, recurrent epistaxis; Telangiectasia of the skin 0 0 1 0 0 0 1
Lipid proteinosis 0 1 0 0 0 0 1
Lisch nodules; Subcutaneous neurofibroma 1 0 0 0 0 0 1
Lissencephaly 1 0 0 0 0 0 1
Lissencephaly due to TUBA1A mutation 0 1 0 0 0 0 1
Lissencephaly; Abnormal facial shape; Epileptic spasm 1 0 0 0 0 0 1
Lissencephaly; Global developmental delay; Hypertonia; Nystagmus; Absent speech; Microcephaly; Strabismus 1 0 0 0 0 0 1
Lissencephaly; Microcephaly 1 0 0 0 0 0 1
Loeys-Dietz syndrome 4 0 0 0 1 0 0 1
Long QT syndrome 12 0 0 1 0 0 0 1
Long QT syndrome 6 0 0 1 0 0 0 1
Lower limb muscle weakness 0 1 0 0 0 0 1
Lymphoma, non-Hodgkin, familial 0 0 1 0 0 0 1
Lysosomal acid lipase deficiency 0 0 1 0 0 0 1
MEGF10-related myopathy 0 0 0 0 1 0 1
MEGF8-related Carpenter syndrome 0 1 0 0 0 0 1
MPDU1-congenital disorder of glycosylation 0 1 0 0 0 0 1
MYH7-related skeletal myopathy 0 1 0 0 0 0 1
Macrocephaly, acquired, with impaired intellectual development 0 0 1 0 0 0 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 1 0 0 0 1
Macrocephaly; Large for gestational age; Loss of consciousness 0 1 0 0 0 0 1
Macrodactyly of toe; Stroke disorder 1 0 0 0 0 0 1
Macroscopic hematuria 0 1 0 0 0 0 1
Macular dystrophy 0 0 1 0 0 0 1
Male infertility; Infertility disorder 0 0 1 0 0 0 1
Malignant hyperthermia of anesthesia 0 1 0 0 0 0 1
Malignant tumor of prostate; Prostate neoplasm 0 0 1 0 0 0 1
Malignant tumor of testis 0 0 1 0 0 0 1
Marfan syndrome 1 0 0 0 0 0 1
Mast syndrome 0 0 1 0 0 0 1
Maturity onset diabetes mellitus in young; Hyperglycemia 0 0 1 0 0 0 1
Maturity-onset diabetes of the young type 10 1 0 0 0 0 0 1
Maturity-onset diabetes of the young type 3 0 1 0 0 0 0 1
Maturity-onset diabetes of the young type 8 0 0 1 0 0 0 1
Meckel syndrome, type 8 0 1 0 0 0 0 1
Megaconial type congenital muscular dystrophy 0 0 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 1 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 1 0 0 0 1
Melorheostosis 1 0 0 0 0 0 1
Memory impairment; Cerebellar atrophy; Parkinsonian disorder; Bradykinesia; Cerebral cortical atrophy; Caudate atrophy; Action tremor; Frontotemporal cerebral atrophy; Dementia 0 0 1 0 0 0 1
Meretoja syndrome 0 0 1 0 0 0 1
Metaphyseal chondrodysplasia 1 0 0 0 0 0 1
Metaphyseal chondrodysplasia, Schmid type 0 0 1 0 0 0 1
Methylmalonic aciduria, cblA type 1 0 0 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 0 1 0 0 0 0 1
Microcephalic primordial dwarfism, Alazami type 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Microcephaly 1, primary, autosomal recessive 0 1 0 0 0 0 1
Microcephaly 13, primary, autosomal recessive 0 1 0 0 0 0 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 0 1 0 0 0 1
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 0 0 1 0 0 0 1
Microcephaly; Severe global developmental delay 1 0 0 0 0 0 1
Microcytic anemia; Motor delay; Abnormal facial shape; Intellectual disability 1 0 0 0 0 0 1
Micrognathia; Scoliosis; Dolichocephaly; Striae distensae; Abnormal mitral valve morphology 1 0 0 0 0 0 1
Micrognathia; Short ribs; Narrow chest; Clinodactyly; Short long bone 0 0 1 0 0 0 1
Microprolactinoma 0 0 1 0 0 0 1
Microscopic hematuria; Elevated mean arterial pressure; Chronic kidney disease 1 0 0 0 0 0 1
Migraine 0 0 1 0 0 0 1
Migraine; Atrial septal defect, ostium secundum type; Rectal prolapse; Stress urinary incontinence; Bicuspid aortic valve 0 1 0 0 0 0 1
Migraine; Constipation; Abnormal blistering of the skin; Abnormal urinary color 1 0 0 0 0 0 1
Migraine; Memory impairment; Muscle spasm; EMG: neuropathic changes; EMG: myotonic runs; Limb pain 0 1 0 0 0 0 1
Migraine; Myopathy; Muscle weakness; Abnormality of the musculature; Myalgia; Exercise-induced myalgia; Increased muscle glycogen content 0 0 1 0 0 0 1
Migraine; Short stature; High palate; Hypotension; Malar flattening; Abnormal facial shape; Thin skin; Mitral valve prolapse; Pain 0 0 1 0 0 0 1
Migraine; Transient ischemic attack; Tension-type headache; Abnormal brain morphology 0 1 0 0 0 0 1
Mild proteinuria; Glomerulopathy; Hypertensive disorder 1 0 0 0 0 0 1
Mitochondrial DNA depletion syndrome 1 1 0 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 16 0 0 0 0 1 0 1
Mitochondrial complex 1 deficiency, nuclear type 17 0 0 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 21 0 0 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 29 0 1 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 4 0 0 1 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 5 0 0 1 0 0 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 0 1 0 0 0 0 1
Mitral regurgitation; Aortic dissection; Ectopia lentis 0 1 0 0 0 0 1
Motor delay; Atypical behavior; Aggressive behavior; Ptosis; Pointed chin; Abnormal sternum morphology; Delayed speech and language development; Downslanted palpebral fissures; Triangular face; Wide nasal bridge; High forehead; Bulbous tips of toes; Infantile muscular hypotonia 0 1 0 0 0 0 1
Motor delay; Calf muscle hypertrophy; Proximal muscle weakness in lower limbs 1 0 0 0 0 0 1
Motor delay; Delayed speech and language development; Vesicoureteral reflux; Strabismus 1 0 0 0 0 0 1
Motor delay; Limb-girdle muscle weakness; EMG abnormality 0 1 0 0 0 0 1
Motor delay; Micrognathia; Hearing impairment; Downslanted palpebral fissures; Microcephaly; Stenosis of the external auditory canal; Intellectual disability; Postnatal growth retardation 0 1 0 0 0 0 1
Motor delay; Muscle weakness; Muscle spasm; EMG abnormality; EMG: myopathic abnormalities; Calf muscle hypertrophy 1 0 0 0 0 0 1
Motor delay; Optic nerve hypoplasia; Hypoplasia of the corpus callosum; Neonatal hypotonia; Global brain atrophy; Paraparesis; Aplasia/Hypoplasia of the cerebellum; Intellectual disability, severe 1 0 0 0 0 0 1
Motor delay; Self-injurious behavior; Absent speech; Self-mutilation; Decreased body weight; Chronic constipation 0 0 1 0 0 0 1
Motor delay; Short attention span; Ptosis; Anteverted nares; Delayed speech and language development; Microretrognathia; Generalized hypotonia; Neonatal hypotonia; Broad-based gait; Pes valgus; EEG with generalized slow activity; EEG with periodic abnormalities; Concave nasal ridge 1 0 0 0 0 0 1
Moyamoya disease 5 0 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-I-H/S 0 0 0 0 1 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 0 0 0 1
Mucopolysaccharidosis, MPS-IV-A 1 0 0 0 0 0 1
Mulibrey nanism syndrome 0 1 0 0 0 0 1
Multiple acyl-CoA dehydrogenase deficiency 0 0 1 0 0 0 1
Multiple gastrointestinal atresias 0 1 0 0 0 0 1
Multiple renal cysts; Hypertensive disorder 1 0 0 0 0 0 1
Multiple sulfatase deficiency 0 1 0 0 0 0 1
Muscle spasm 1 0 0 0 0 0 1
Muscle weakness; Arthralgia; Myalgia; EMG: myopathic abnormalities 0 0 1 0 0 0 1
Muscle weakness; Difficulty walking; Falls; Hip flexor weakness; Congenital hip dislocation 1 0 0 0 0 0 1
Muscle weakness; Distal sensory impairment; Limb pain; Pain; EMG: myotonic discharges 0 1 0 0 0 0 1
Muscle weakness; Headache; Gait imbalance; Difficulty walking; Paresthesia; Difficulty climbing stairs; Scapular winging; Difficulty standing 1 0 0 0 0 0 1
Muscle weakness; Headache; Spastic gait; Loss of ambulation; Equinovarus deformity; Stress urinary incontinence; Spastic paraplegia 0 0 1 0 0 0 1
Muscle weakness; Myotonia 0 0 1 0 0 0 1
Muscle weakness; Proximal muscle weakness 0 0 1 0 0 0 1
Muscular dystrophy; Gait disturbance; EMG abnormality; Late-onset muscular dystrophy; Fatty replacement of skeletal muscle 0 0 1 0 0 0 1
Muscular dystrophy; Limb-girdle muscle weakness; Hyperextensible hand joints; Fatigue 0 1 0 0 0 0 1
Muscular dystrophy; Limb-girdle muscle weakness; Shoulder girdle muscle weakness 1 0 0 0 0 0 1
Myocardial infarction; Headache; Rigidity; Vertigo; Myotonia of the upper limb; EMG: myotonic discharges 1 0 0 0 0 0 1
Myoclonic dystonia 11 0 0 1 0 0 0 1
Myofibrillar myopathy 3 0 0 1 0 0 0 1
Myofibrillar myopathy; Limb-girdle muscle weakness 0 0 1 0 0 0 1
Myopathy; Cardiomyopathy; EMG: myopathic abnormalities 0 1 0 0 0 0 1
Myopathy; EMG: myopathic abnormalities 0 1 0 0 0 0 1
Myopathy; Failure to thrive; Flexion contracture 1 0 0 0 0 0 1
Myopathy; Global developmental delay; Clinodactyly; Attention deficit hyperactivity disorder 1 0 0 0 0 0 1
Myopathy; Muscle weakness 0 0 1 0 0 0 1
Myopathy; Pes cavus; Hammertoe; Distal lower limb amyotrophy 0 1 0 0 0 0 1
Myopathy; Rimmed vacuoles; Lower limb muscle weakness 0 1 0 0 0 0 1
Myopathy; Short stature; EMG: myopathic abnormalities; Exercise-induced muscle cramps; Exercise-induced myalgia; Decreased body weight; Exercise-induced muscle stiffness; Exercise-induced muscle fatigue; Exercise-induced rhabdomyolysis 0 1 0 0 0 0 1
Myopia 1 0 0 0 0 0 1
Myopia; Amblyopia 0 1 0 0 0 0 1
Myosclerosis 0 0 1 0 0 0 1
Myotonia; EMG: myotonic discharges 0 1 0 0 0 0 1
Myotonia; Handgrip myotonia 1 0 0 0 0 0 1
Narcolepsy 7 0 0 0 0 1 0 1
Narrow chest; Disproportionate short-limb short stature 0 1 0 0 0 0 1
Narrow palate; Abnormal vena cava morphology; Aortic tortuosity; Bicuspid aortic valve 0 0 1 0 0 0 1
Nemaline myopathy 9 0 0 0 0 1 0 1
Neonatal-onset encephalopathy with rigidity and seizures 0 0 0 1 0 0 1
Neoplasm of ovary; Breast carcinoma 1 0 0 0 0 0 1
Nephrolithiasis; Subcutaneous lipoma; Exercise intolerance; Acute liver failure; Abnormal mitochondria in muscle tissue; Moderate sensorineural hearing impairment; Sleep apnea; Chronic fatigue 0 0 1 0 0 0 1
Nephronophthisis 1 0 0 1 0 0 0 1
Nephronophthisis 15 0 1 0 0 0 0 1
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 0 1 0 0 0 1
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0 0 1 0 0 0 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 0 1 0 0 0 1
Neurodevelopmental disorder with severe motor impairment and absent language 0 0 1 0 0 0 1
Neurofibroma 0 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 11 0 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 2B 1 0 0 0 0 0 1
Neuronopathy, distal hereditary motor, type 2C 0 0 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 2D 0 0 1 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 1C 0 0 1 0 0 0 1
Neutral lipid storage myopathy 0 0 1 0 0 0 1
Niemann-Pick disease, type C2 0 0 1 0 0 0 1
Non-ossifying fibromas with pathologic factures and X-linked intellectual disability 1 0 0 0 0 0 1
Noncompaction cardiomyopathy 1 0 0 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 0 1
Noonan syndrome 9 1 0 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 0 0 1
Nystagmus 6, congenital, X-linked 0 0 1 0 0 0 1
Nystagmus; Reduced eye contact; Ocular albinism 0 1 0 0 0 0 1
Obesity 0 1 0 0 0 0 1
Obesity due to leptin receptor gene deficiency 0 0 1 0 0 0 1
Obesity; Brachydactyly; Short stature; Cognitive impairment; Hypocalcemia; Round face; Tetany; Subcutaneous nodule 1 0 0 0 0 0 1
Obesity; Delayed speech and language development; Narrow mouth 1 0 0 0 0 0 1
Obesity; Global developmental delay; Short phalanx of finger; Hypermetropia; Sandal gap 0 0 1 0 0 0 1
Obesity; Malar flattening; Mandibular prognathia; Delayed speech and language development; Thin upper lip vermilion; Tooth malposition; Poor fine motor coordination; Infantile muscular hypotonia; Attention deficit hyperactivity disorder 0 0 0 1 0 0 1
Obesity; Prolonged QT interval 0 1 0 0 0 0 1
Obesity; Seizure; Intellectual disability 0 1 0 0 0 0 1
Obesity; Sleep abnormality; Pes planus; Delayed speech and language development; Horizontal nystagmus; Gynecomastia; Generalized hypotonia; Poor motor coordination; Difficulty walking; Hypotonia 0 0 1 0 0 0 1
Oculocerebrofacial syndrome, Kaufman type 0 0 1 0 0 0 1
Oculomotor apraxia; Parkinsonian disorder; Myopathic facies; Rigidity; Axial muscle stiffness 0 0 1 0 0 0 1
Odonto-onycho-dermal dysplasia 0 1 0 0 0 0 1
Oligodontia-cancer predisposition syndrome 0 0 1 0 0 0 1
Oligohydramnios; Premature birth; Small for gestational age; Birth length less than 3rd percentile; Motor polyneuropathy; Interosseus muscle atrophy; Mixed demyelinating and axonal polyneuropathy; Progressive pes cavus 0 0 1 0 0 0 1
Opsismodysplasia 1 0 0 0 0 0 1
Optic atrophy 12 0 0 1 0 0 0 1
Optic atrophy; Abnormal choroid morphology; Visual field defect; Pain 0 1 0 0 0 0 1
Oral cavity telangiectasia; Palate telangiectasia; Spontaneous, recurrent epistaxis; Pulmonary arteriovenous malformation; Telangiectasia of the skin 1 0 0 0 0 0 1
Ornithine aminotransferase deficiency 0 1 0 0 0 0 1
Orofacial cleft 11 0 0 1 0 0 0 1
Orofacial cleft; Cleft palate 0 0 1 0 0 0 1
Orofacial-digital syndrome IV 0 1 0 0 0 0 1
Osteocraniostenosis 0 0 1 0 0 0 1
Osteogenesis imperfecta type 14 0 0 1 0 0 0 1
Osteogenesis imperfecta type 16 0 1 0 0 0 0 1
Osteogenesis imperfecta type 7 0 0 1 0 0 0 1
Osteopathia striata with cranial sclerosis 0 0 1 0 0 0 1
Osteopetrosis with renal tubular acidosis 0 1 0 0 0 0 1
Overgrowth; Facial asymmetry; Hemimegalencephaly 0 0 1 0 0 0 1
PGM1-congenital disorder of glycosylation 0 0 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 0 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 0 1 0 0 0 1
Pachyonychia congenita 3 0 0 1 0 0 0 1
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 0 1 0 0 0 1
Palmoplantar hyperhidrosis; Ichthyosis; Atrophic scars; Palmoplantar blistering 0 0 1 0 0 0 1
Palmoplantar keratoderma; Arthralgia; Stiff skin 0 0 1 0 0 0 1
Palpitations; Recurrent paroxysmal headache; Adrenal pheochromocytoma 0 0 1 0 0 0 1
Panhypopituitarism, X-linked 0 0 1 0 0 0 1
Parathyroid gland adenoma; Hypercalcemia; Hypertrophic cardiomyopathy; Hypocalciuria 0 1 0 0 0 0 1
Parkinson disease 11, autosomal dominant, susceptibility to 0 0 1 0 0 0 1
Parkinson disease, late-onset 0 0 1 0 0 0 1
Parkinsonian disorder; Abnormality of speech or vocalization; Hyperlipidemia; Lower limb muscle weakness; Dementia; Hypertensive disorder 0 0 0 0 0 1 1
Parkinsonian disorder; Resting tremor; Cogwheel rigidity 0 0 1 0 0 0 1
Parkinsonian disorder; Tremor; Rigidity; Cogwheel rigidity 0 0 0 0 0 1 1
Paroxysmal dystonia 0 1 0 0 0 0 1
Paroxysmal dystonia; Paroxysmal dyskinesia; Episodic hemiplegia 1 0 0 0 0 0 1
Patent foramen ovale; Coronary artery disorder; Atrial septal dilatation; Middle cerebral artery stenosis; Carotid artery stenosis; Stroke disorder 0 0 1 0 0 0 1
Patterned macular dystrophy 2 0 0 1 0 0 0 1
Pectus excavatum; Cardiomyopathy; Ptosis; Clinodactyly of the 5th finger; Proptosis 0 1 0 0 0 0 1
Pectus excavatum; Inguinal hernia; Tall stature; Myopia; Joint hypermobility 1 0 0 0 0 0 1
Penetrating foot ulcers; Distal sensory impairment; Osteomyelitis leading to amputation due to slow healing fractures; Distal lower limb muscle weakness 1 0 0 0 0 0 1
Periorbital hyperpigmentation; Intestinal polyposis 0 1 0 0 0 0 1
Periventricular heterotopia with microcephaly, autosomal recessive 0 1 0 0 0 0 1
Periventricular nodular heterotopia 7 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 1B 1 0 0 0 0 0 1
Peroxisome biogenesis disorder 2A (Zellweger) 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 5A (Zellweger) 1 0 0 0 0 0 1
Peroxisome biogenesis disorder 6A (Zellweger) 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 7B 1 0 0 0 0 0 1
Peroxisome biogenesis disorder type 3B 0 0 1 0 0 0 1
Perrault syndrome 1 1 0 0 0 0 0 1
Perrault syndrome 4 1 0 0 0 0 0 1
Persistent hyperplastic primary vitreous; Nystagmus; Short lingual frenulum; High myopia 0 1 0 0 0 0 1
Pes cavus; Distal lower limb muscle weakness; Peripheral neuropathy 0 1 0 0 0 0 1
Pes cavus; Peroneal muscle atrophy; Distal lower limb muscle weakness; Hand muscle atrophy 0 1 0 0 0 0 1
Peters plus syndrome 1 0 0 0 0 0 1
Phosphate transport defect 1 0 0 0 0 0 1
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0 1 0 0 0 0 1
Phosphoribosylpyrophosphate synthetase superactivity 0 1 0 0 0 0 1
Pilarowski-Bjornsson syndrome 0 0 1 0 0 0 1
Pituitary hormone deficiency, combined, 2 1 0 0 0 0 0 1
Pityriasis rubra pilaris 0 0 1 0 0 0 1
Plagiocephaly; Seizure; Vesicoureteral reflux; Horseshoe kidney; Intellectual disability, mild 0 1 0 0 0 0 1
Plasminogen deficiency, type I 0 0 1 0 0 0 1
Polycystic kidney disease; Abnormality of the kidney; Multicystic kidney dysplasia 0 1 0 0 0 0 1
Polycystic kidney disease; Chronic kidney disease; Hypertensive disorder 1 0 0 0 0 0 1
Polycystic kidney disease; Elevated systolic blood pressure; Elevated diastolic blood pressure 1 0 0 0 0 0 1
Polycystic kidney disease; Hemangioma; Enlarged kidney 0 1 0 0 0 0 1
Polycystic kidney disease; Moderate sensorineural hearing impairment; 3-4 toe syndactyly 0 1 0 0 0 0 1
Polycystic liver disease 1; Aortic dilatation; Aortic dissection; Ascending aortic dissection 0 1 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney disease 1 0 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia 1 0 0 0 0 0 1
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia; Cystic renal dysplasia 1 0 0 0 0 0 1
Polycystic liver disease 2 0 0 1 0 0 0 1
Polydactyly, postaxial, type A1; Abnormal cardiovascular system morphology; Visual impairment; Inability to walk 1 0 0 0 0 0 1
Polydactyly, postaxial, type A1; Abnormality of the nail; Ridged nail; Bifid nail 0 0 1 0 0 0 1
Polydactyly; Global developmental delay; Rotary nystagmus; Limb undergrowth; Chronic kidney disease 1 0 0 0 0 0 1
Polydactyly; Male infertility; Syndactyly; Penile hypospadias; Mesoaxial hand polydactyly; Oligospermia 1 0 0 0 0 0 1
Polyglandular autoimmune syndrome, type 1 1 0 0 0 0 0 1
Polyglucosan body myopathy type 1 0 1 0 0 0 0 1
Polyhydramnios; Congenital contracture; Breathing dysregulation 0 1 0 0 0 0 1
Polymicrogyria; Developmental delay 0 1 0 0 0 0 1
Polyposis syndrome, hereditary mixed, 2 0 0 1 0 0 0 1
Pontocerebellar hypoplasia type 2D 0 1 0 0 0 0 1
Pontocerebellar hypoplasia type 6 1 0 0 0 0 0 1
Pontocerebellar hypoplasia type 7 0 1 0 0 0 0 1
Pontocerebellar hypoplasia, type 11 1 0 0 0 0 0 1
Pontoneocerebellar hypoplasia; Global developmental delay; Hearing loss 0 0 1 0 0 0 1
Poor coordination; Scoliosis; Hypothyroidism; Myopia; Progressive hearing impairment; Dolichocephaly 1 0 0 0 0 0 1
Porencephaly-microcephaly-bilateral congenital cataract syndrome 0 1 0 0 0 0 1
Postaxial foot polydactyly; Truncal obesity; Intellectual disability, moderate 0 1 0 0 0 0 1
Preeclampsia; Tall stature; Overgrowth; Pointed chin; Delayed speech and language development; Macrocephaly; High forehead; Osteopenia; Increased body weight 0 1 0 0 0 0 1
Pregnancy loss, recurrent, susceptibility to, 2 0 0 1 0 0 0 1
Premature ovarian failure 2B 0 0 1 0 0 0 1
Premature ovarian failure 3 0 1 0 0 0 0 1
Premature ovarian insufficiency 0 0 1 0 0 0 1
Premature ovarian insufficiency; Female infertility 0 1 0 0 0 0 1
Primary ciliary dyskinesia 17 0 1 0 0 0 0 1
Primary ciliary dyskinesia 19 1 0 0 0 0 0 1
Primary ciliary dyskinesia 5 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Atrial septal defect; Ventricular fibrillation; Noncompaction cardiomyopathy 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy; Low-output congestive heart failure; Noncompaction cardiomyopathy 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Epicanthus; Craniosynostosis 4; Delayed speech and language development; Delayed gross motor development; Sagittal craniosynostosis; Muscular ventricular septal defect 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Hearing abnormality; Hypotonia 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Hypotonia 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Left ventricular noncompaction cardiomyopathy; Ventricular tachycardia 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Progressive muscle weakness; Calf muscle hypertrophy; Abnormal muscle fiber dystrophin expression 1 0 0 0 0 0 1
Primary hyperparathyroidism; Medullary thyroid carcinoma; Parathyroid gland adenoma; Calcium nephrolithiasis; Pancreatic insulin-producing neuroendocrine tumor; Abnormal circulating calcium concentration 1 0 0 0 0 0 1
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 0 1 0 0 0 0 1
Progressive bulbar palsy of childhood 0 0 1 0 0 0 1
Progressive distal muscle weakness; Progressive proximal muscle weakness 0 1 0 0 0 0 1
Progressive external ophthalmoplegia; Bilateral sensorineural hearing impairment; Depression; Bilateral ptosis; Dysphonia; Neuromuscular dysphagia; EMG: myopathic abnormalities; Abnormal mitochondria in muscle tissue 0 1 0 0 0 0 1
Progressive myoclonic epilepsy type 8 0 0 1 0 0 0 1
Progressive neurodegenerative disease 0 1 0 0 0 0 1
Prolactin-producing pituitary gland adenoma; High myopia 0 1 0 0 0 0 1
Protein avoidance; Abnormal circulating ornithine concentration; Hyperammonemia 1 0 0 0 0 0 1
Proteinuria; Microscopic hematuria; Moderate albuminuria 1 0 0 0 0 0 1
Proteinuria; Renal cyst 0 0 1 0 0 0 1
Proteinuria; Renal insufficiency; Focal segmental glomerulosclerosis; Hypertensive disorder 0 1 0 0 0 0 1
Protrusio acetabuli; Dental crowding; High palate; Tall stature; Mitral regurgitation; Aortic root aneurysm; Ectopia lentis 0 1 0 0 0 0 1
Pruritus; Intrahepatic cholestasis; Abnormal liver function tests during pregnancy 1 0 0 0 0 0 1
Pulmonary arterial hypertension; Bilateral cryptorchidism; Rib fusion; Horseshoe kidney; Macrocephaly; Abnormality of neuronal migration; Enlarged cisterna magna; Hypoplasia of penis 0 0 1 0 0 0 1
Pulmonary arterial hypertension; Epistaxis 1 0 0 0 0 0 1
Pulmonary arterial hypertension; Mitral valve prolapse; Right ventricular hypertrophy; Pulmonary artery dilatation; Right ventricular dilatation; Elevated right atrial pressure; Increased pulmonary vascular resistance; Right bundle branch block 0 0 1 0 0 0 1
Pulmonary hypertension, primary, 1 0 0 1 0 0 0 1
Pulmonic stenosis; Short stature; Ptosis; Abnormal sternum morphology 1 0 0 0 0 0 1
Pulmonic stenosis; Tricuspid regurgitation; Pulmonary valve atresia 0 0 1 0 0 0 1
Pulmonic stenosis; Webbed neck; Downslanted palpebral fissures; Premature birth; Wide intermamillary distance; High forehead; Low-set, posteriorly rotated ears; Ventricular hypertrophy; Neonatal respiratory distress; Ventricular septal defect 0 1 0 0 0 0 1
Purine-nucleoside phosphorylase deficiency 0 0 1 0 0 0 1
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 1 0 0 0 0 0 1
Pyridoxal phosphate-responsive seizures 1 0 0 0 0 0 1
Pyruvate dehydrogenase E3 deficiency 0 0 1 0 0 0 1
RFT1-congenital disorder of glycosylation 0 1 0 0 0 0 1
Rafiq syndrome 0 0 0 0 1 0 1
Recurrent infections; Sepsis 1 0 0 0 0 0 1
Recurrent subcortical infarcts 0 1 0 0 0 0 1
Reduced tendon reflexes; Hammertoe; Achilles tendon contracture; Distal sensory impairment; Talipes cavus equinovarus; Progressive distal muscular atrophy; Progressive distal muscle weakness; Pain 0 1 0 0 0 0 1
Renal coloboma syndrome 0 0 1 0 0 0 1
Renal cyst 0 1 0 0 0 0 1
Renal cyst; Hepatic cysts; Pancreatic cysts; Renovascular hypertension; Hypertensive disorder 0 1 0 0 0 0 1
Renal cyst; Pancreatic cysts 1 0 0 0 0 0 1
Renal hypomagnesemia 4 0 0 1 0 0 0 1
Renal insufficiency; Renal cortical cysts; Cortical dysplasia 1 0 0 0 0 0 1
Renal tubular dysgenesis 0 0 1 0 0 0 1
Respiratory distress; Muscle weakness 0 1 0 0 0 0 1
Respiratory distress; Spasticity; Tongue fasciculations 0 0 1 0 0 0 1
Retinal cone dystrophy 3A 0 0 1 0 0 0 1
Retinal detachment 0 1 0 0 0 0 1
Retinal detachment; Visual impairment; Rod-cone dystrophy; Central scotoma; Blurred vision 0 0 1 0 0 0 1
Retinal dystrophy 0 0 1 0 0 0 1
Retinal dystrophy; Macular degeneration; Postaxial hand polydactyly; Intellectual disability; Foot polydactyly; High-frequency hearing impairment 1 0 0 0 0 0 1
Retinitis pigmentosa 11 0 1 0 0 0 0 1
Retinitis pigmentosa 2 0 1 0 0 0 0 1
Retinitis pigmentosa 23 0 0 1 0 0 0 1
Retinitis pigmentosa 28 0 1 0 0 0 0 1
Retinitis pigmentosa 47 0 0 1 0 0 0 1
Retinitis pigmentosa 58 0 1 0 0 0 0 1
Retinitis pigmentosa 59 0 0 1 0 0 0 1
Retinitis pigmentosa 81 0 0 1 0 0 0 1
Retinopathy 0 0 1 0 0 0 1
Retrognathia; Femoral bowing; Disproportionate short stature; Rhizomelic arm shortening; Rhizomelic leg shortening; Short long bone 0 1 0 0 0 0 1
Retrognathia; Polyhydramnios; Hypoglycemia; Bilateral cryptorchidism; Pointed chin; Broad forehead; Triangular face; Long philtrum; Generalized hypotonia; Neonatal hypotonia; Large for gestational age; Large fleshy ears 0 1 0 0 0 0 1
Rhabdomyosarcoma, embryonal, 2 1 0 0 0 0 0 1
Rhizomelic chondrodysplasia punctata type 2 0 0 1 0 0 0 1
Rigidity; Akinesia 0 1 0 0 0 0 1
Rippling muscle disease 2 0 0 1 0 0 0 1
Ritscher-Schinzel syndrome 2 0 0 1 0 0 0 1
Roberts-SC phocomelia syndrome 1 0 0 0 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 0 0 0 0 1
Saldino-Mainzer syndrome 1 0 0 0 0 0 1
Schizophrenia; Global developmental delay; Coarse facial features; Anteverted nares; Synophrys; Intellectual disability 0 1 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 0 1
Schwannoma; Peripheral schwannoma 1 0 0 0 0 0 1
Schwannomatosis 1 0 1 0 0 0 0 1
Scoliosis 0 1 0 0 0 0 1
Scoliosis; Abnormal facial shape; Cafe-au-lait spot; Specific learning disability; Intellectual disability, mild 1 0 0 0 0 0 1
Scoliosis; Hemivertebrae; Missing ribs; Supernumerary ribs 0 0 0 1 0 0 1
Scoliosis; High palate; Pes planus; Myopia; Dolichocephaly; Mitral valve prolapse; Dilatation of the ascending aorta 1 0 0 0 0 0 1
Scoliosis; Pes planus; Myopia; Pectus carinatum; Striae distensae; Mitral valve prolapse; Aortic root aneurysm; Pes valgus; Ectopia lentis 1 0 0 0 0 0 1
Seckel syndrome 4 1 0 0 0 0 0 1
Seizure; Abnormal cerebral white matter morphology; Unilateral polymicrogyria; Frontoparietal polymicrogyria 0 0 1 0 0 0 1
Seizure; Absent speech; Developmental regression; Severe global developmental delay; Irregular respiration 1 0 0 0 0 0 1
Seizure; Apnea; Delayed speech and language development; Hemiplegia; Oculogyric crisis 0 1 0 0 0 0 1
Seizure; Bilateral tonic-clonic seizure 0 0 1 0 0 0 1
Seizure; Bilateral tonic-clonic seizure; Generalized non-motor (absence) seizure 0 0 1 0 0 0 1
Seizure; Cardiac rhabdomyoma; Hamartoma 1 0 0 0 0 0 1
Seizure; Delayed speech and language development; Intellectual disability; Generalized hypotonia; Difficulty walking; Epileptic encephalopathy 0 1 0 0 0 0 1
Seizure; Fatigue; Abnormal myelination 1 0 0 0 0 0 1
Seizure; Fetal growth restriction; Growth delay 1 0 0 0 0 0 1
Seizure; Generalized hypotonia 1 0 0 0 0 0 1
Seizure; Hemangioma; Facial hemangioma 0 0 0 0 1 0 1
Seizure; Hemivertebrae; Polycystic kidney disease; Atrial septal defect, ostium secundum type; Missing ribs; Dry skin; Abnormality of the nail; Abnormal cortical gyration; Hyperechogenic kidneys; Periventricular heterotopia; Plantar crease between first and second toes; Overlapping fingers 0 0 1 0 0 0 1
Seizure; Low-set ears; Abnormal facial shape; Intellectual disability 0 1 0 0 0 0 1
Seizure; Multiple renal cysts; Cortical tubers 1 0 0 0 0 0 1
Seizure; Short stature; Failure to thrive; Constipation; Recurrent respiratory infections; Microcephaly; Decreased body weight 0 0 1 0 0 0 1
Seizure; Short stature; Specific learning disability; Genu varum; Relative macrocephaly; Mesomelic/rhizomelic limb shortening; Disproportionate short-limb short stature 1 0 0 0 0 0 1
Senior-Loken syndrome 4 1 0 0 0 0 0 1
Sensorineural hearing loss disorder; Pes planus; Distal muscle weakness; Foot dorsiflexor weakness 0 1 0 0 0 0 1
Sensorineural hearing loss disorder; Progressive sensorineural hearing impairment; Impaired vibration sensation in the lower limbs; EMG abnormality; Peripheral axonal neuropathy; EMG: axonal abnormality; Motor polyneuropathy; Peripheral neuropathy 0 0 1 0 0 0 1
Sensorineural hearing loss disorder; Short stature; Glucose intolerance; Stroke disorder 1 0 0 0 0 0 1
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 0 1 0 0 0 1
Severe neurodegenerative syndrome with lipodystrophy 0 1 0 0 0 0 1
Severe photosensitivity; Macular dystrophy; Adult-onset night blindness 0 1 0 0 0 0 1
Severe sensorineural hearing impairment 1 0 0 0 0 0 1
Short chin; Abnormal eyebrow morphology; Conductive hearing impairment; Single transverse palmar crease; Short lingual frenulum; Macrocephaly; Long philtrum; Reduced bone mineral density; Disproportionate short-limb short stature 0 0 1 0 0 0 1
Short ribs; Absent vertebral body mineralization 1 0 0 0 0 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 0 1 0 0 0 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 0 1 0 0 0 1
Short stature; Abnormal cardiovascular system morphology 1 0 0 0 0 0 1
Short stature; Abnormal facial shape; Poor speech; Cytochrome C oxidase-negative muscle fibers; Inability to walk by childhood/adolescence; Decreased activity of mitochondrial complex I 1 0 0 0 0 0 1
Short stature; Absent speech; Microcephaly; Low-set, posteriorly rotated ears; Generalized hypotonia; Drooling; Psychomotor deterioration 0 1 0 0 0 0 1
Short stature; Broad forehead; Delayed speech and language development; Narrow nose; Short nose; Wide mouth; Microcephaly; Long philtrum; Periorbital fullness; Intellectual disability, mild; Delayed gross motor development; Decreased body weight; Upturned corners of mouth; Delayed fine motor development; Thick vermilion border 1 0 0 0 0 0 1
Short stature; Conductive hearing impairment; Cleft palate 1 0 0 0 0 0 1
Short stature; Delayed gross motor development; Congenital contracture; Proximal amyotrophy 1 0 0 0 0 0 1
Short stature; Hearing impairment; Developmental dysplasia of the hip; Scoliosis; Multiple epiphyseal dysplasia; Hypoplastic acetabulae 0 1 0 0 0 0 1
Short stature; Hearing impairment; Hypothyroidism; Myopia; Intellectual disability; Truncal obesity; Short metacarpal 0 1 0 0 0 0 1
Short stature; Hypoglycemia 1 0 0 0 0 0 1
Short stature; Wide mouth; Wide nasal bridge; Relative macrocephaly 0 1 0 0 0 0 1
Shoulder girdle muscle weakness; Calf muscle hypertrophy 1 0 0 0 0 0 1
Sialic acid storage disease, severe infantile type 1 0 0 0 0 0 1
Skeletal dysplasia; Craniosynostosis syndrome; Short stature; Genu varum 1 0 0 0 0 0 1
Skeletal dysplasia; Multiple prenatal fractures 1 0 0 0 0 0 1
Skeletal dysplasia; Scoliosis; Narrow chest; Abnormality of the lower limb; Relative macrocephaly; Neuropathic spinal arthropathy 0 0 1 0 0 0 1
Skeletal dysplasia; Short stature; Growth delay; Short ribs; Narrow chest; Small for gestational age; Bell-shaped thorax; Femoral bowing; Bowed humerus; Disproportionate short-limb short stature; Lethal short-limbed short stature; Lower limb undergrowth; Upper limb undergrowth 1 0 0 0 0 0 1
Sleep abnormality; Delayed speech and language development; Macrocephaly; High forehead; Delayed gross motor development; Pes valgus; Infantile axial hypotonia; Tented upper lip vermilion; Delayed fine motor development; Concave nasal ridge 1 0 0 0 0 0 1
Snijders Blok-Campeau syndrome 0 0 1 0 0 0 1
Sorsby fundus dystrophy 0 0 1 0 0 0 1
Spastic ataxia 0 0 1 0 0 0 1
Spastic gait; Spastic paraplegia 0 1 0 0 0 0 1
Spastic paraplegia 52, autosomal recessive 1 0 0 0 0 0 1
Spastic tetraparesis 0 0 1 0 0 0 1
Spasticity; Flexion contracture; Spastic diplegia; Pes valgus; Tip-toe gait 1 0 0 0 0 0 1
Spinocerebellar ataxia 7 0 0 0 0 1 0 1
Spinocerebellar ataxia type 14 0 0 1 0 0 0 1
Spinocerebellar ataxia type 35 0 0 1 0 0 0 1
Spinocerebellar ataxia type 38 0 0 1 0 0 0 1
Splenomegaly 0 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 0 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, PAPSS2 type 1 0 0 0 0 0 1
Spondyloepiphyseal dysplasia tarda 0 0 1 0 0 0 1
Stage 5 chronic kidney disease; Hepatic cysts; Dilatation of the cerebral artery 1 0 0 0 0 0 1
Stereotypic movement disorder; Delayed speech and language development; Delayed gross motor development; Bruxism 1 0 0 0 0 0 1
Strabismus; Generalized hypotonia; Thoracolumbar scoliosis; Aplasia/Hypoplasia of the nails; Central hypotonia 0 1 0 0 0 0 1
Striae distensae; Mitral valve prolapse; Pulmonary artery dilatation 0 1 0 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 0 0 0 1
Sudden cardiac death; Cardiac arrest 0 0 0 1 0 0 1
Sudden cardiac death; Failure to thrive; Constipation; Jaundice; Generalized hypotonia; Infantile onset; Neonatal onset 0 0 1 0 0 0 1
Sulfite oxidase deficiency 0 1 0 0 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 0 1 0 0 0 0 1
Syncope 0 1 0 0 0 0 1
Syncope; Abnormality of the dentition; Intermittent diarrhea; Cachexia; Urticaria; Peripheral neuropathy 0 0 1 0 0 0 1
Syncope; Ventricular fibrillation 0 0 1 0 0 0 1
Syndromic X-linked intellectual disability Snyder type 0 0 1 0 0 0 1
TCF12-related craniosynostosis 1 0 0 0 0 0 1
Tall stature; Cafe-au-lait spot; Joint hypermobility; Arthralgia; Hyperextensible hand joints; Hyperextensibility at elbow 0 0 1 0 0 0 1
Tall stature; Myopia; Pectus carinatum; Lens subluxation 0 1 0 0 0 0 1
Teebi hypertelorism syndrome 0 0 1 0 0 0 1
Telecanthus; Hyperextensible skin; Joint hypermobility; Neuropathic spinal arthropathy 0 1 0 0 0 0 1
Tetralogy of Fallot; Microcephaly; Cleft palate 1 0 0 0 0 0 1
Thrombocythemia 1 0 0 1 0 0 0 1
Thrombocytopenia 2 0 0 1 0 0 0 1
Thumb deformity; Glaucoma 0 1 0 0 0 0 1
Thumb deformity; Global developmental delay; Micrognathia; Feeding difficulties; Facial grimacing 0 0 0 1 0 0 1
Thumb deformity; Spasticity; Synophrys; Thin vermilion border; Morphological central nervous system abnormality; Spinal dysraphism 0 1 0 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 1 0 0 0 1
Thyroid cancer, nonmedullary, 2 0 0 1 0 0 0 1
Toe syndactyly; Ambiguous genitalia; Unilateral renal agenesis; Cryptophthalmia; Abnormality of the anus; Finger syndactyly; Renal hypoplasia/aplasia; Cryptotia 1 0 0 0 0 0 1
Toriello-Lacassie-Droste syndrome 0 0 1 0 0 0 1
Torticollis; Congenital cerebellar hypoplasia; Global developmental delay; Microcephaly; Secondary microcephaly 0 0 1 0 0 0 1
Townes-Brocks syndrome 1 0 0 1 0 0 0 1
Tremor; EMG: neuropathic changes; Limb muscle weakness 0 1 0 0 0 0 1
Trichohepatoenteric syndrome 1 0 1 0 0 0 0 1
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0 1 0 0 0 0 1
Trichorhinophalangeal dysplasia type I 0 0 1 0 0 0 1
Tricuspid regurgitation; Myopia; Mitral regurgitation; Abnormal left ventricle morphology; Aortic root aneurysm 0 1 0 0 0 0 1
Tumoral calcinosis, hyperphosphatemic, familial, 2 0 0 1 0 0 0 1
Type 2 diabetes mellitus; Short stature; Cataract; Convex nasal ridge; Mask-like facies; Decreased body weight 0 1 0 0 0 0 1
Tyrosinase-positive oculocutaneous albinism 0 0 1 0 0 0 1
UDPglucose-4-epimerase deficiency 1 0 0 0 0 0 1
UV-sensitive syndrome 3 0 0 0 0 1 0 1
Ulnar-mammary syndrome 0 0 1 0 0 0 1
Unilateral deafness; Microscopic hematuria; Mild proteinuria 0 0 1 0 0 0 1
Urinary bladder sphincter dysfunction; EMG: myopathic abnormalities; Distal amyotrophy; Foot dorsiflexor weakness; Distal lower limb muscle weakness; Lower limb pain; Fatty replacement of skeletal muscle; Muscle fiber inclusion bodies 1 0 0 0 0 0 1
Usher syndrome type 1 0 0 1 0 0 0 1
Usher syndrome, type 1M 0 0 1 0 0 0 1
Uterine leiomyoma; Cutaneous leiomyoma 0 1 0 0 0 0 1
Uterine leiomyoma; Hereditary leiomyomatosis and renal cell cancer 0 0 1 0 0 0 1
Uveal coloboma-cleft lip and palate-intellectual disability 0 0 1 0 0 0 1
Van der Woude syndrome 2 0 0 1 0 0 0 1
Varicose disease; Inguinal hernia; Bruising susceptibility; Aortic root aneurysm; Gastrointestinal carcinoma; Prominent superficial blood vessels; Dilatation of the sinus of Valsalva; Colorectal polyposis 0 0 1 0 0 0 1
Vascular dilatation 0 1 0 0 0 0 1
Vascular dilatation; Arterial thrombosis; Arterial tortuosity 0 1 0 0 0 0 1
Venous malformation 1 0 0 0 0 0 1
Ventricular arrhythmia; Right ventricular cardiomyopathy 0 1 0 0 0 0 1
Ventricular tachycardia 0 1 0 0 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 1 0 0 0 0 0 1
Vesicoureteral reflux 2 0 0 1 0 0 0 1
Visual impairment; Optic atrophy; Central scotoma; Optic neuropathy; Optic neuritis 0 0 1 0 0 0 1
Visual impairment; Retinal dystrophy; Retinal pigment epithelial atrophy 0 0 1 0 0 0 1
Visual loss; Abnormal electroretinogram; Optic neuropathy 1 0 0 0 0 0 1
Visual loss; Blindness; Macular degeneration 1 0 0 0 0 0 1
Vitamin D hydroxylation-deficient rickets, type 1B 0 0 1 0 0 0 1
Vitiligo; Distal muscle weakness; EMG abnormality; EMG: axonal abnormality 0 0 1 0 0 0 1
Vitreoretinopathy 1 0 0 0 0 0 1
Vomiting; Fever; Abdominal pain; Visual loss; Mood changes 1 0 0 0 0 0 1
Von Hippel-Lindau syndrome 0 0 1 0 0 0 1
Waardenburg syndrome 0 1 0 0 0 0 1
Waardenburg syndrome type 4C 0 0 1 0 0 0 1
Warburg-cinotti syndrome 0 0 1 0 0 0 1
Weaver syndrome 0 0 0 0 1 0 1
Webbed neck; Coronary artery disorder; Left ventricular hypertrophy; Ventricular tachycardia; Hypertensive disorder; Stroke disorder 0 0 1 0 0 0 1
X-linked agammaglobulinemia with growth hormone deficiency 0 0 1 0 0 0 1
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 0 0 1 0 0 0 1
X-linked hydrocephalus syndrome 1 0 0 0 0 0 1
X-linked ichthyosis with steryl-sulfatase deficiency 0 0 1 0 0 0 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 0 0 1 0 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 0 0 1
X-linked recessive nephrolithiasis with renal failure 0 0 1 0 0 0 1
Xeroderma pigmentosum group B 1 0 0 0 0 0 1
Xeroderma pigmentosum, group G 0 0 0 0 1 0 1
Yao syndrome 0 0 1 0 0 0 1
ZTTK syndrome 0 0 1 0 0 0 1
Zimmermann-Laband syndrome 2 0 0 1 0 0 0 1
alterations of great arteries and veins; Connective tissue disorder 1 0 0 0 0 0 1

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