ClinVar Miner

Variants from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Location: France — 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 drug response risk factor total
205 378 85 8 5 2 1 679

Gene and significance breakdown #

Total genes and gene combinations: 396
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor total
TBR1 1 15 0 0 0 0 0 15
STAG1 0 10 0 0 0 0 0 10
VPS13B 2 8 0 0 0 0 0 10
MSL3 1 8 0 0 0 0 0 9
BRCA2 5 3 0 0 0 0 0 8
DDX3X 0 7 0 0 0 0 0 7
OFD1 2 5 0 0 0 0 0 7
ZBTB20 7 1 0 0 0 0 0 7
ANKRD11 2 4 0 0 0 0 0 6
ARID1B 2 4 0 0 0 0 0 6
PTPN11 6 0 0 0 0 0 0 6
AHDC1 3 2 0 0 0 0 0 5
CREBBP 0 4 1 0 0 0 0 5
EHMT1 1 4 0 0 0 0 0 5
MED13L 0 5 0 0 0 0 0 5
MYBPC3 1 0 4 0 0 0 0 5
NR2F1 1 4 0 0 0 0 0 5
POGZ 1 4 0 0 0 0 0 5
RET 0 1 3 0 1 0 0 5
SCN2A 2 3 0 0 0 0 0 5
SCN5A 2 1 1 0 1 0 0 5
ALMS1 4 0 0 0 0 0 0 4
BRAT1 4 0 0 0 0 0 0 4
COQ8A 0 2 2 0 0 0 0 4
DSG2 1 0 2 1 0 0 0 4
DYRK1A 1 3 0 0 0 0 0 4
KCNQ1 1 3 0 0 0 0 0 4
KMT2A 1 3 0 0 0 0 0 4
MAN2B1 2 2 0 0 0 0 0 4
NFIX 0 4 0 0 0 0 0 4
NSD1 1 3 0 0 0 0 0 4
PAH 3 1 1 0 0 0 0 4
PKHD1 0 4 0 0 0 0 0 4
PURA 1 3 0 0 0 0 0 4
SH3TC2 0 3 1 0 0 0 0 4
BCL11A 1 2 0 0 0 0 0 3
BRAF 3 0 0 0 0 0 0 3
CDK13 1 2 0 0 0 0 0 3
CFTR 3 0 0 0 0 0 0 3
CHD8 0 3 0 0 0 0 0 3
DLG4 0 3 0 0 0 0 0 3
DYNC1H1 0 3 0 0 0 0 0 3
EP300 1 2 0 0 0 0 0 3
KCNB1 0 3 0 0 0 0 0 3
KDM5C 0 3 0 0 0 0 0 3
KLHL7 0 3 0 0 0 0 0 3
PPT1 2 1 0 0 0 0 0 3
PUF60 0 2 1 0 0 0 0 3
RECQL4 1 2 0 0 0 0 0 3
SDHB 0 0 2 0 1 0 0 3
SETD5 0 3 0 0 0 0 0 3
SLC13A5 2 1 0 0 0 0 0 3
SLC6A1 0 3 0 0 0 0 0 3
SYN1 1 1 0 1 0 0 0 3
SYNGAP1 1 1 1 0 0 0 0 3
TCF4 0 3 0 0 0 0 0 3
TUBB3 0 3 0 0 0 0 0 3
ZEB2 0 3 0 0 0 0 0 3
ABCC9 0 2 0 0 0 0 0 2
ABHD12 0 2 0 0 0 0 0 2
ANO10 0 2 0 0 0 0 0 2
AP3B2, CPEB1 0 2 0 0 0 0 0 2
ARHGEF9 1 0 1 0 0 0 0 2
ARID1A 0 1 1 0 0 0 0 2
ASXL1 0 2 0 0 0 0 0 2
ASXL2 2 0 0 0 0 0 0 2
ATIC 1 0 1 0 0 0 0 2
ATP1A1 0 1 1 0 0 0 0 2
ATRX 1 0 0 1 0 0 0 2
AUTS2 1 1 0 0 0 0 0 2
B3GLCT 1 0 1 0 0 0 0 2
BRCA1 2 0 0 0 0 0 0 2
CDAN1 2 0 0 0 0 0 0 2
CLN3 2 0 0 0 0 0 0 2
COL2A1 2 0 0 0 0 0 0 2
CSNK2A1 1 1 0 0 0 0 0 2
CUL4B 1 1 0 0 0 0 0 2
CYFIP2 0 2 0 0 0 0 0 2
DEPDC5 1 1 0 0 0 0 0 2
DHCR7 0 2 0 0 0 0 0 2
DSP 0 0 2 0 0 0 0 2
DYSF 0 2 0 0 0 0 0 2
ERCC2 1 1 0 0 0 0 0 2
FGFR2 2 0 0 0 0 0 0 2
FLCN 1 0 1 0 0 0 0 2
FLNB 0 2 0 0 0 0 0 2
GATAD2B 0 2 0 0 0 0 0 2
GFER 0 2 0 0 0 0 0 2
IRF6 1 1 0 0 0 0 0 2
KANSL1 1 1 0 0 0 0 0 2
KAT6A 0 2 0 0 0 0 0 2
KCNQ2 2 0 0 0 0 0 0 2
KCNQ3 2 0 0 0 0 0 0 2
KIF1A 2 0 0 0 0 0 0 2
KMT2D 2 0 0 0 0 0 0 2
LARP7, MIR302CHG 1 1 0 0 0 0 0 2
LHCGR, STON1-GTF2A1L 0 2 0 0 0 0 0 2
LMNA 0 0 2 0 0 0 0 2
LOC110121269, SCN5A 0 1 0 0 1 0 0 2
LONP1 0 2 0 0 0 0 0 2
MECP2 1 1 0 0 0 0 0 2
MT-ND6 1 0 0 0 0 0 1 2
MUSK 0 2 0 0 0 0 0 2
NAA10 1 1 0 0 0 0 0 2
NEB 0 2 0 0 0 0 0 2
NGLY1 0 2 0 0 0 0 0 2
NIPBL 1 1 0 0 0 0 0 2
NUP205 0 0 2 0 0 0 0 2
OCRL 2 0 0 0 0 0 0 2
OTX2 2 0 0 0 0 0 0 2
PBX1 0 2 0 0 0 0 0 2
PGAP2 1 1 0 0 0 0 0 2
PGAP3 2 0 0 0 0 0 0 2
PHF6 2 0 0 0 0 0 0 2
PKP2 2 0 0 0 0 0 0 2
PLP1, RAB9B 0 2 0 0 0 0 0 2
POMC 2 0 0 0 0 0 0 2
PYCR1 1 1 0 0 0 0 0 2
RPS6KA3 0 1 0 1 0 0 0 2
SACS 2 0 0 0 0 0 0 2
SATB2 1 1 0 0 0 0 0 2
SCN1A 0 2 0 0 0 0 0 2
SGCD 0 0 2 0 0 0 0 2
SKI 1 1 0 0 0 0 0 2
SLC16A2 1 1 0 0 0 0 0 2
SLC2A1 0 2 0 0 0 0 0 2
SLC6A8 1 1 0 0 0 0 0 2
SNHG14, UBE3A 1 1 0 0 0 0 0 2
SPECC1L, SPECC1L-ADORA2A 0 2 0 0 0 0 0 2
SPG11 0 2 0 0 0 0 0 2
SPTBN2 0 2 0 0 0 0 0 2
TAF1 0 2 0 0 0 0 0 2
TBL1XR1 0 2 0 0 0 0 0 2
THOC6 0 1 1 0 0 0 0 2
TNNT2 0 0 2 0 0 0 0 2
TRIT1 0 2 0 0 0 0 0 2
TTN 0 2 0 0 0 0 0 2
VWF 1 1 0 0 0 0 0 2
WASHC4 0 2 0 0 0 0 0 2
ZBTB18 0 2 0 0 0 0 0 2
​intergenic 0 1 0 0 0 0 0 1
ABCA12, SNHG31 1 0 0 0 0 0 0 1
ACE 0 1 0 0 0 0 0 1
ACTB 1 0 0 0 0 0 0 1
ACTG2 0 1 0 0 0 0 0 1
ADGRV1 1 0 0 0 0 0 0 1
ADNP 1 0 0 0 0 0 0 1
AFF4 0 1 0 0 0 0 0 1
AFG3L2 0 1 0 0 0 0 0 1
AK4, ALG6, ANGPTL3, ANKRD13C, ATG4C, C1orf141, C1orf87, CACHD1, CTH, CYP2J2, DEPDC1, DIRAS3, DNAJC6, DOCK7, EFCAB7, FGGY, FOXD3, GADD45A, GNG12, HHLA3, HOOK1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LRRC40, LRRC7, MIER1, MIR101-1, NEGR1, NFIA, PATJ, PDE4B, PGM1, PTGER3, RAVER2, ROR1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TCTEX1D1, TM2D1, UBE2U, USP1, WDR78, WLS, ZRANB2 1 0 0 0 0 0 0 1
ALDH18A1 0 1 0 0 0 0 0 1
ALX3 0 1 0 0 0 0 0 1
AMFR 0 0 1 0 0 0 0 1
APC 0 0 1 0 0 0 0 1
APOB 0 0 1 0 0 0 0 1
ARHGAP6, FRMPD4, MSL3 0 1 0 0 0 0 0 1
ARHGAP6, MSL3 0 1 0 0 0 0 0 1
ARHGEF26 0 0 1 0 0 0 0 1
ARX 0 1 0 0 0 0 0 1
ASXL3 0 1 0 0 0 0 0 1
ATL1 0 1 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, 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 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 0 0 1
ATXN2L 0 0 1 0 0 0 0 1
B4GALT7, CDHR2, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM193B, FGFR4, GPRIN1, GRK6, HK3, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PRR7, RAB24, RGS14, RNF44, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 0 1 0 0 0 0 0 1
BAZ2B, CD302, DPP4, FAP, FIGN, GCA, GCG, IFIH1, ITGB6, KCNH7, LY75, LY75-CD302, MARCHF7, PLA2R1, PSMD14, RBMS1, SLC4A10, TANC1, TANK, TBR1, WDSUB1 0 1 0 0 0 0 0 1
BEGAIN 0 0 1 0 0 0 0 1
BRPF1 1 0 0 0 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 0 0 0 1
CACNA1S 0 0 1 0 0 0 0 1
CAMK2A 0 1 0 0 0 0 0 1
CAMTA1 0 1 0 0 0 0 0 1
CAV3 0 0 1 0 0 0 0 1
CCND2 0 1 0 0 0 0 0 1
CDC42 0 1 0 0 0 0 0 1
CDH5 0 0 1 0 0 0 0 1
CDKL5 0 1 0 0 0 0 0 1
CERS2 0 0 1 0 0 0 0 1
CFTR, LOC111674472 1 0 0 0 0 0 0 1
CFTR, LOC111674475 1 0 0 0 0 0 0 1
CHAMP1 0 1 0 0 0 0 0 1
CHD3 0 1 0 0 0 0 0 1
CHD7 1 0 0 0 0 0 0 1
CIC 0 1 0 0 0 0 0 1
CIT 0 0 1 0 0 0 0 1
CLCN4 0 1 0 0 0 0 0 1
CLDN11 0 0 1 0 0 0 0 1
CNP 0 0 1 0 0 0 0 1
COG7 1 0 0 0 0 0 0 1
COL3A1 1 0 0 0 0 0 0 1
COL4A1 0 1 0 0 0 0 0 1
COL4A5 1 0 0 0 0 0 0 1
COL6A1 1 0 0 0 0 0 0 1
COL6A3 0 0 1 0 0 0 0 1
CRAT 0 1 0 0 0 0 0 1
CTNNB1 0 1 0 0 0 0 0 1
CTXN2, DUT, FBN1, MYEF2, SEMA6D, SLC12A1, SLC24A5 1 0 0 0 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 0 0 1
DES 0 0 1 0 0 0 0 1
DKK3 0 0 1 0 0 0 0 1
DLL3 0 1 0 0 0 0 0 1
DNM1 0 1 0 0 0 0 0 1
DNM1L, YARS2 0 1 0 0 0 0 0 1
DNMT3A 0 1 0 0 0 0 0 1
DPH1 0 1 0 0 0 0 0 1
DPP4, FAP, GCG, IFIH1, PSMD14, SLC4A10, TANK, TBR1 0 1 0 0 0 0 0 1
DSC2 0 0 1 0 0 0 0 1
DSCAML1 0 0 1 0 0 0 0 1
DUPD1, KAT6B 0 1 0 0 0 0 0 1
DYM, LOC100129878 1 0 0 0 0 0 0 1
EBF3 1 0 0 0 0 0 0 1
EEF1A2 0 1 0 0 0 0 0 1
EFNB1 0 1 0 0 0 0 0 1
EIF2S3 0 1 0 0 0 0 0 1
EMILIN3 0 0 1 0 0 0 0 1
ENG 0 0 1 0 0 0 0 1
F11 1 0 0 0 0 0 0 1
FAM83H 0 0 1 0 0 0 0 1
FBN2 0 1 0 0 0 0 0 1
FBXO11 0 1 0 0 0 0 0 1
FIBP 0 1 0 0 0 0 0 1
FKBP8, LOC112543469 0 0 1 0 0 0 0 1
FLNA 0 1 0 0 0 0 0 1
FOXC1 0 1 0 0 0 0 0 1
FOXG1 0 1 0 0 0 0 0 1
FOXL2 1 0 0 0 0 0 0 1
FOXP1 1 0 0 0 0 0 0 1
FOXP3 0 1 0 0 0 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 0 1 0 0 0 0 0 1
GABRA1 0 1 1 0 0 0 0 1
GCH1 1 0 0 0 0 0 0 1
GDF6 0 1 0 0 0 0 0 1
GLMN 0 1 0 0 0 0 0 1
GLT8D2 0 0 1 0 0 0 0 1
GNAO1 0 1 0 0 0 0 0 1
GPC3 0 1 0 0 0 0 0 1
GPD1L 0 0 0 1 0 0 0 1
GRHL3 0 1 0 0 0 0 0 1
GRIN2B 0 1 0 0 0 0 0 1
H1-4 1 0 0 0 0 0 0 1
HCN1 0 1 0 0 0 0 0 1
HDAC8 1 0 0 0 0 0 0 1
HDLBP 0 0 1 0 0 0 0 1
HECW2 0 1 0 0 0 0 0 1
HES7 0 1 0 0 0 0 0 1
HEXA 1 0 0 0 0 0 0 1
HFE 1 0 0 0 0 0 0 1
HIVEP2 1 0 0 0 0 0 0 1
HMBS 0 1 0 0 0 0 0 1
HNRNPK 0 1 0 0 0 0 0 1
HNRNPU 1 0 0 0 0 0 0 1
HPS3 0 1 0 0 0 0 0 1
HUWE1 1 0 0 0 0 0 0 1
IDS, LOC106050102 0 0 0 1 0 0 0 1
INF2 0 1 0 0 0 0 0 1
IQSEC2 1 0 0 0 0 0 0 1
JAM3 1 0 0 0 0 0 0 1
KAT6B 0 1 0 0 0 0 0 1
KCNA2 1 0 0 0 0 0 0 1
KCND3 0 1 0 0 0 0 0 1
KCNE2 0 0 1 0 0 0 0 1
KCNH1 1 0 0 0 0 0 0 1
KCNT1 0 1 0 0 0 0 0 1
KDM6A 0 1 0 0 0 0 0 1
KIF11 0 1 0 0 0 0 0 1
KMT5B 1 0 0 0 0 0 0 1
LARP7 0 1 0 0 0 0 0 1
LEPR 1 0 0 0 0 0 0 1
LMX1B 0 1 0 0 0 0 0 1
LOC114827850, MYL2 0 0 1 0 0 0 0 1
LRIG2 0 1 0 0 0 0 0 1
MAB21L1, NBEA 0 1 0 0 0 0 0 1
MAP2K1 0 1 0 0 0 0 0 1
MAPK8IP3 1 0 0 0 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 0 0 1
MED12 0 1 0 0 0 0 0 1
MED23 0 1 0 0 0 0 0 1
MEF2C 0 1 0 0 0 0 0 1
METTL11B 0 0 1 0 0 0 0 1
MITF 0 1 0 0 0 0 0 1
MLH3 0 0 1 0 0 0 0 1
MRE11 1 0 0 0 0 0 0 1
MT-ATP6 0 1 0 0 0 0 0 1
MT-ND4 1 0 0 0 0 0 0 1
MT-RNR1 0 0 0 0 0 1 0 1
MT-RNR1, MT-TS1 0 0 0 0 0 1 0 1
MTREX 0 0 1 0 0 0 0 1
MYH7 0 1 0 0 0 0 0 1
MYL2 0 1 0 0 0 0 0 1
MYL3 0 0 1 0 0 0 0 1
MYLK 0 1 0 0 0 0 0 1
MYO15A 0 1 0 0 0 0 0 1
MYT1L 0 1 0 0 0 0 0 1
NCSTN 0 1 0 0 0 0 0 1
NEFL 1 0 0 0 0 0 0 1
NEU3 0 0 1 0 0 0 0 1
NEXMIF 1 0 0 0 0 0 0 1
NF1 0 1 0 0 0 0 0 1
NF2 0 0 1 0 0 0 0 1
NFIB 0 1 0 0 0 0 0 1
NHS 1 0 0 0 0 0 0 1
NPHS1 1 0 0 0 0 0 0 1
NR5A1 0 1 0 0 0 0 0 1
OTC 1 0 0 0 0 0 0 1
OTUD6B 0 1 0 0 0 0 0 1
PACS1 1 0 0 0 0 0 0 1
PACS2 0 1 0 0 0 0 0 1
PAEP 1 0 0 0 0 0 0 1
PANK2 1 0 0 0 0 0 0 1
PAX9 0 1 0 0 0 0 0 1
PCGF2 1 0 0 0 0 0 0 1
PCSK9 0 0 1 0 0 0 0 1
PDZD9, UQCRC2 1 0 0 0 0 0 0 1
PHF8 0 1 0 0 0 0 0 1
PHIP 0 1 0 0 0 0 0 1
PHKA2 0 1 0 0 0 0 0 1
PICALM 0 0 1 0 0 0 0 1
PIK3CA 1 0 0 0 0 0 0 1
PKD1L2 0 0 1 0 0 0 0 1
PMS2 0 1 0 0 0 0 0 1
PNPLA6 0 0 1 0 0 0 0 1
PNPO 1 0 0 0 0 0 0 1
POC1A 0 1 0 0 0 0 0 1
POMGNT2 1 0 0 0 0 0 0 1
PPM1D 0 1 0 0 0 0 0 1
PPP1CB 1 0 0 0 0 0 0 1
PPP2R1A 0 1 0 0 0 0 0 1
PPP2R5C 0 1 0 0 0 0 0 1
PROS1 0 0 1 0 0 0 0 1
PRUNE1 1 0 0 0 0 0 0 1
PSMD14, TANK, TBR1 0 1 0 0 0 0 0 1
PYGL 1 0 0 0 0 0 0 1
RAD21 1 0 0 0 0 0 0 1
RALGAPB 0 0 1 0 0 0 0 1
RANBP10 0 0 1 0 0 0 0 1
RARB 0 1 0 0 0 0 0 1
REEP1 1 0 0 0 0 0 0 1
RHO 0 1 0 0 0 0 0 1
RNASEH2B 1 0 0 0 0 0 0 1
RPGR 1 0 0 0 0 0 0 1
RYR2 0 0 1 0 0 0 0 1
SAMD9 0 1 0 0 0 0 0 1
SATB1 0 0 1 0 0 0 0 1
SCN3B 0 1 0 0 0 0 0 1
SHH 0 1 0 0 0 0 0 1
SHOC2 1 0 0 0 0 0 0 1
SIDT1 0 0 1 0 0 0 0 1
SLC16A1 0 1 0 0 0 0 0 1
SLC5A7 0 1 0 0 0 0 0 1
SMAD4 1 0 0 0 0 0 0 1
SMARCA4 0 1 0 0 0 0 0 1
SMARCB1 0 1 0 0 0 0 0 1
SMARCE1 0 1 0 0 0 0 0 1
SMC3 0 1 0 0 0 0 0 1
SNTA1 0 0 0 1 0 0 0 1
SOX11 0 1 0 0 0 0 0 1
SOX5 0 1 0 0 0 0 0 1
SOX9 0 1 0 0 0 0 0 1
SPAG9 0 0 1 0 0 0 0 1
SPAST 1 0 0 0 0 0 0 1
SPATA5 1 0 0 0 0 0 0 1
SPR 0 1 0 0 0 0 0 1
SRCAP 1 0 0 0 0 0 0 1
ST3GAL5 0 1 0 0 0 0 0 1
STK11 0 0 1 0 0 0 0 1
STXBP1 0 1 0 0 0 0 0 1
TAF2 0 1 0 0 0 0 0 1
TAPBPL 0 0 1 0 0 0 0 1
TFAP2A 0 1 0 0 0 0 0 1
TLK2 0 1 0 0 0 0 0 1
TMCO1 1 0 0 0 0 0 0 1
TOR1A 0 1 0 0 0 0 0 1
TP53 1 0 0 0 0 0 0 1
TPCN2 0 0 1 0 0 0 0 1
TRAPPC2 0 1 0 0 0 0 0 1
TRAPPC9 0 1 0 0 0 0 0 1
TRIM37 0 1 0 0 0 0 0 1
TRIO 0 1 0 0 0 0 0 1
TSC1 0 0 0 0 1 0 0 1
TSPAN7 0 0 0 1 0 0 0 1
TTC21B 1 0 0 0 0 0 0 1
TTPA 1 0 0 0 0 0 0 1
TUBB2A 0 1 0 0 0 0 0 1
TWIST1 1 0 0 0 0 0 0 1
UBAP1 1 0 0 0 0 0 0 1
UBE3B 0 1 0 0 0 0 0 1
USB1 0 1 0 0 0 0 0 1
VCP 1 0 0 0 0 0 0 1
WASHC5 0 1 0 0 0 0 0 1
WDR26 1 0 0 0 0 0 0 1
WDR45 0 1 0 0 0 0 0 1
WFS1 1 0 0 0 0 0 0 1
WSCD2 0 0 1 0 0 0 0 1
ZBTB46 0 0 1 0 0 0 0 1
ZNF148 0 1 0 0 0 0 0 1
ZSWIM6 1 0 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 361
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor total
Marfanoid habitus and intellectual disability 0 33 45 0 0 0 0 78
Intellectual disability 0 14 0 0 0 0 0 14
Cohen syndrome 2 8 0 0 0 0 0 10
STAG1-related disorder 0 10 0 0 0 0 0 10
Autistic behavior; Moderate global developmental delay 0 9 0 0 0 0 0 9
Breast-ovarian cancer, familial 2 5 2 0 0 0 0 0 7
Orofaciodigital syndrome I 2 5 0 0 0 0 0 7
Primrose syndrome 7 0 0 0 0 0 0 7
Autistic behavior; Severe global developmental delay 0 6 0 0 0 0 0 6
KBG syndrome 2 4 0 0 0 0 0 6
Long QT syndrome 3 1 2 1 0 2 0 0 6
Mental retardation, X-linked 102 0 6 0 0 0 0 0 6
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 4 0 0 0 0 0 5
Cystic fibrosis 5 0 0 0 0 0 0 5
Left ventricular noncompaction 10 1 0 4 0 0 0 0 5
Mental retardation and distinctive facial features with or without cardiac defects 0 5 0 0 0 0 0 5
White-sutton syndrome 1 4 0 0 0 0 0 5
Alstrom syndrome 4 0 0 0 0 0 0 4
Arrhythmogenic right ventricular cardiomyopathy, type 10 1 0 2 1 0 0 0 4
Autosomal recessive polycystic kidney disease 0 4 0 0 0 0 0 4
Charcot-Marie-Tooth disease, type 4C 0 3 1 0 0 0 0 4
Coenzyme Q10 deficiency, primary, 4 0 2 2 0 0 0 0 4
Coffin-Siris syndrome 1 2 2 0 0 0 0 0 4
Deficiency of alpha-mannosidase 2 2 0 0 0 0 0 4
Early infantile epileptic encephalopathy 11 2 2 0 0 0 0 0 4
Kleefstra syndrome 1 2 2 0 0 0 0 0 4
Long QT syndrome 1 1 3 0 0 0 0 0 4
Mental retardation, autosomal dominant 31 1 3 0 0 0 0 0 4
Mental retardation, autosomal dominant 7 1 3 0 0 0 0 0 4
Multiple endocrine neoplasia, type 2b 0 0 3 0 1 0 0 4
Noonan syndrome 1 4 0 0 0 0 0 0 4
Phenylketonuria 3 1 0 0 0 0 0 4
Rigidity and multifocal seizure syndrome, lethal neonatal 4 0 0 0 0 0 0 4
Sotos syndrome 1 1 3 0 0 0 0 0 4
Wiedemann-Steiner syndrome 1 3 0 0 0 0 0 4
Xia-Gibbs syndrome 3 1 0 0 0 0 0 4
Alazami syndrome 1 2 0 0 0 0 0 3
Ceroid lipofuscinosis neuronal 1 2 1 0 0 0 0 0 3
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 1 1 0 1 0 0 0 3
Epileptic encephalopathy 0 3 0 0 0 0 0 3
Epileptic encephalopathy, early infantile, 25 2 1 0 0 0 0 0 3
Intellectual developmental disorder with persistence of fetal hemoglobin 1 2 0 0 0 0 0 3
Leber's optic atrophy 2 0 0 0 0 0 1 3
Mental retardation, autosomal dominant 23 0 3 0 0 0 0 0 3
Mental retardation, syndromic, Claes-Jensen type, X-linked 0 3 0 0 0 0 0 3
Paragangliomas 4 0 0 2 0 1 0 0 3
Pitt-Hopkins syndrome 0 3 0 0 0 0 0 3
Rothmund-Thomson syndrome 1 2 0 0 0 0 0 3
Rubinstein-Taybi syndrome 1 0 3 0 0 0 0 0 3
Rubinstein-Taybi syndrome 2 1 2 0 0 0 0 0 3
Ulnar deviation of the wrist 0 3 0 0 0 0 0 3
Van der Woude syndrome 1 2 0 0 0 0 0 3
Verheij syndrome 0 2 1 0 0 0 0 3
AICAR transformylase/IMP cyclohydrolase deficiency 1 0 1 0 0 0 0 2
ATR-X syndrome 1 0 0 1 0 0 0 2
Allan-Herndon-Dudley syndrome 1 1 0 0 0 0 0 2
Aminoglycoside-induced deafness 0 0 0 0 0 2 0 2
Angelman syndrome 1 1 0 0 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy, type 9 2 0 0 0 0 0 0 2
Autism, susceptibility to, 18 0 2 0 0 0 0 0 2
Autosomal recessive cutis laxa type 2B 1 1 0 0 0 0 0 2
Beaulieu-Boycott-Innes syndrome 0 1 1 0 0 0 0 2
Borjeson-Forssman-Lehmann syndrome 2 0 0 0 0 0 0 2
Breast-ovarian cancer, familial 1 2 0 0 0 0 0 0 2
C-like syndrome 0 2 0 0 0 0 0 2
CODAS syndrome 0 2 0 0 0 0 0 2
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 0 2 0 0 0 0 0 2
Cardiofaciocutaneous syndrome 1 2 0 0 0 0 0 0 2
Cerebrooculofacioskeletal syndrome 2 1 1 0 0 0 0 0 2
Chromosome 2q32-q33 deletion syndrome 1 1 0 0 0 0 0 2
Congenital disorder of deglycosylation 0 2 0 0 0 0 0 2
Congenital dyserythropoietic anemia, type I 2 0 0 0 0 0 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 1 0 0 0 0 0 2
Cornelia de Lange syndrome 1 1 1 0 0 0 0 0 2
Cortical dysplasia, complex, with other brain malformations 1 0 2 0 0 0 0 0 2
Creatine deficiency, X-linked 1 1 0 0 0 0 0 2
Dilated cardiomyopathy 1A 0 0 2 0 0 0 0 2
Dilated cardiomyopathy 1L 0 0 2 0 0 0 0 2
Distal hereditary motor neuronopathy type 5 2 0 0 0 0 0 0 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 0 2 0 0 0 0 0 2
Early infantile epileptic encephalopathy 7 2 0 0 0 0 0 0 2
Early infantile epileptic encephalopathy 8 1 0 1 0 0 0 0 2
Epilepsy, familial focal, with variable foci 1 1 1 0 0 0 0 0 2
Epileptic encephalopathy, early infantile, 26 0 2 0 0 0 0 0 2
Familial hypertrophic cardiomyopathy 10 0 1 1 0 0 0 0 2
Hyperphosphatasia with mental retardation syndrome 3 1 1 0 0 0 0 0 2
Hyperphosphatasia with mental retardation syndrome 4 2 0 0 0 0 0 0 2
Hypertrichotic osteochondrodysplasia 0 2 0 0 0 0 0 2
Juvenile neuronal ceroid lipofuscinosis 2 0 0 0 0 0 0 2
Kabuki syndrome 1 2 0 0 0 0 0 0 2
Koolen-de Vries syndrome 1 1 0 0 0 0 0 2
Left ventricular noncompaction 6 0 0 2 0 0 0 0 2
Leydig cell agenesis 0 2 0 0 0 0 0 2
Limb-girdle muscular dystrophy, type 2B 0 2 0 0 0 0 0 2
Lowe syndrome 2 0 0 0 0 0 0 2
Mental retardation, autosomal dominant 13 0 2 0 0 0 0 0 2
Mental retardation, autosomal dominant 18 0 2 0 0 0 0 0 2
Mental retardation, autosomal dominant 22 0 2 0 0 0 0 0 2
Mental retardation, autosomal dominant 26 1 1 0 0 0 0 0 2
Mental retardation, autosomal dominant 32 0 2 0 0 0 0 0 2
Mental retardation, autosomal dominant 41 0 2 0 0 0 0 0 2
Mental retardation, autosomal dominant 5 1 1 0 0 0 0 0 2
Mental retardation, autosomal dominant 9 2 0 0 0 0 0 0 2
Mental retardation, autosomal recessive 43 0 2 0 0 0 0 0 2
Microphthalmia syndromic 5 2 0 0 0 0 0 0 2
Moderate global developmental delay 0 2 0 0 0 0 0 2
Multiple fibrofolliculomas 1 0 1 0 0 0 0 2
Myoclonic-atonic epilepsy 0 2 0 0 0 0 0 2
Myopathy, early-onset, with fatal cardiomyopathy 0 2 0 0 0 0 0 2
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 0 2 0 0 0 0 0 2
Nemaline myopathy 2 0 2 0 0 0 0 0 2
Okur-chung neurodevelopmental syndrome 1 1 0 0 0 0 0 2
Pelizaeus-Merzbacher disease 0 2 0 0 0 0 0 2
Pena-Shokeir syndrome type I 0 2 0 0 0 0 0 2
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 2 0 0 0 0 0 2
Proopiomelanocortin deficiency 2 0 0 0 0 0 0 2
Rett syndrome 1 1 0 0 0 0 0 2
Severe global developmental delay 0 2 0 0 0 0 0 2
Shashi-Pena syndrome 2 0 0 0 0 0 0 2
Shprintzen-Goldberg syndrome 1 1 0 0 0 0 0 2
Smith-Lemli-Opitz syndrome 0 2 0 0 0 0 0 2
Sotos syndrome 2 0 2 0 0 0 0 0 2
Spastic ataxia Charlevoix-Saguenay type 2 0 0 0 0 0 0 2
Spastic paraplegia 11, autosomal recessive 0 2 0 0 0 0 0 2
Spinocerebellar ataxia 5 0 2 0 0 0 0 0 2
Spinocerebellar ataxia, autosomal recessive 10 0 2 0 0 0 0 0 2
Spondylocarpotarsal synostosis syndrome 0 2 0 0 0 0 0 2
Syndromic X-linked mental retardation, Cabezas type 1 1 0 0 0 0 0 2
Young Simpson syndrome 0 2 0 0 0 0 0 2
46,XY sex reversal, type 3 0 1 0 0 0 0 0 1
AU-KLINE SYNDROME 0 1 0 0 0 0 0 1
Abdominal obesity-metabolic syndrome 3 0 1 0 0 0 0 0 1
Acromelic frontonasal dysostosis 1 0 0 0 0 0 0 1
Acute intermittent porphyria 0 1 0 0 0 0 0 1
Aicardi Goutieres syndrome 1 0 1 0 0 0 0 0 1
Aicardi Goutieres syndrome 2 1 0 0 0 0 0 0 1
Alport syndrome 1, X-linked recessive 1 0 0 0 0 0 0 1
Aortic aneurysm, familial thoracic 7 0 1 0 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 2 0 0 1 0 0 0 0 1
Ataxia with vitamin E deficiency 1 0 0 0 0 0 0 1
Ataxia-telangiectasia-like disorder 1 1 0 0 0 0 0 0 1
Autistic behavior 0 1 0 0 0 0 0 1
Autosomal recessive congenital ichthyosis 4B 1 0 0 0 0 0 0 1
Axenfeld-Rieger syndrome type 3 0 1 0 0 0 0 0 1
Baraitser-Winter syndrome 1 1 0 0 0 0 0 0 1
Bethlem myopathy 1 1 0 0 0 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus 1 0 0 0 0 0 0 1
Brain small vessel disease 1 with or without ocular anomalies; MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT 0 1 0 0 0 0 0 1
Branchiooculofacial syndrome 0 1 0 0 0 0 0 1
Brugada syndrome 2 0 0 0 1 0 0 0 1
Brugada syndrome 7 0 1 0 0 0 0 0 1
CHARGE association 1 0 0 0 0 0 0 1
CHUNG-JANSEN SYNDROME 0 1 0 0 0 0 0 1
COG7 congenital disorder of glycosylation 1 0 0 0 0 0 0 1
Camptomelic dysplasia 0 1 0 0 0 0 0 1
Cardiac conduction disease with or without dilated cardiomyopathy 0 1 0 0 0 0 0 1
Cardiac valvular dysplasia, X-linked 0 1 0 0 0 0 0 1
Cardiofaciocutaneous syndrome 3 0 1 0 0 0 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2O 0 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1f; Charcot-Marie-Tooth disease type 2E; CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 1 0 0 0 0 0 0 1
Chops syndrome 0 1 0 0 0 0 0 1
Chromosome 15q11-q13 duplication syndrome 1 0 0 0 0 0 0 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 0 0 0 0 0 0 1
Coffin-Lowry syndrome 0 1 0 0 0 0 0 1
Coffin-Siris syndrome 5 0 1 0 0 0 0 0 1
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 1 0 0 0 0 0 0 1
Congenital ocular coloboma; Overgrowth; Macrocephalus; Large hands; learning disabilities; facial dysmorphism 0 1 0 0 0 0 0 1
Cornelia de Lange syndrome 3 0 1 0 0 0 0 0 1
Cornelia de Lange syndrome 4 1 0 0 0 0 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 5 0 1 0 0 0 0 0 1
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 1 0 0 0 0 0 0 1
Craniofrontonasal dysplasia 0 1 0 0 0 0 0 1
Cutis laxa-corneal clouding-oligophrenia syndrome 0 1 0 0 0 0 0 1
Deafness, autosomal recessive 3 0 1 0 0 0 0 0 1
Developmental delay with short stature, dysmorphic features, and sparse hair 0 1 0 0 0 0 0 1
Dilated cardiomyopathy 1I 0 0 1 0 0 0 0 1
Distal arthrogryposis 0 1 0 0 0 0 0 1
Dyggve-Melchior-Clausen syndrome 1 0 0 0 0 0 0 1
Dystonia 1 0 1 0 0 0 0 0 1
Dystonia 5, Dopa-responsive type 1 0 0 0 0 0 0 1
EEG abnormality; Gait disturbance; Abnormal facial shape; Absent speech; Inflexible adherence to routines or rituals; Generalized hypotonia; Cortical dysplasia; Severe global developmental delay; Hypoplastic anterior commissure; Hypoplastic hippocampus 0 1 0 0 0 0 0 1
Early infantile epileptic encephalopathy 14 0 1 0 0 0 0 0 1
Early infantile epileptic encephalopathy 17 0 1 0 0 0 0 0 1
Early infantile epileptic encephalopathy 2 0 1 0 0 0 0 0 1
Early infantile epileptic encephalopathy 4 0 1 0 0 0 0 0 1
Ehlers-Danlos syndrome, type 4 1 0 0 0 0 0 0 1
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 0 1 0 0 0 0 0 1
Epilepsy, hearing loss, and mental retardation syndrome 1 0 0 0 0 0 0 1
Epileptic encephalopathy, early infantile, 19 0 1 0 0 0 0 0 1
Epileptic encephalopathy, early infantile, 24 0 1 0 0 0 0 0 1
Epileptic encephalopathy, early infantile, 31 0 1 0 0 0 0 0 1
Epileptic encephalopathy, early infantile, 32 1 0 0 0 0 0 0 1
Epileptic encephalopathy, early infantile, 33 0 1 0 0 0 0 0 1
Epileptic encephalopathy, early infantile, 54 1 0 0 0 0 0 0 1
Exercise-induced hyperinsulinemic hypoglycemia 0 1 0 0 0 0 0 1
FG syndrome 1 0 1 0 0 0 0 0 1
Familial acne inversa 1 0 1 0 0 0 0 0 1
Familial adenomatous polyposis 1 0 0 1 0 0 0 0 1
Familial cancer of breast 1 0 0 0 0 0 0 1
Familial cancer of breast; Breast-ovarian cancer, familial 2; Malignant tumor of prostate 0 1 0 0 0 0 0 1
Familial hypercholesterolemia 3 0 0 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 1 0 1 0 0 0 0 0 1
Familial hypertrophic cardiomyopathy 8 0 0 1 0 0 0 0 1
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 0 1 0 0 0 0 0 1
Finnish congenital nephrotic syndrome 1 0 0 0 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 0 0 0 1
Focal segmental glomerulosclerosis 5 0 1 0 0 0 0 0 1
Frontonasal dysplasia 1 0 1 0 0 0 0 0 1
GLUT1 deficiency syndrome 1 0 1 0 0 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 0 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 1 0 0 0 0 0 1
Glomuvenous malformations 0 1 0 0 0 0 0 1
Glycogen storage disease type IXa1 0 1 0 0 0 0 0 1
Glycogen storage disease, type VI 1 0 0 0 0 0 0 1
Helsmoortel-Van der Aa Syndrome 1 0 0 0 0 0 0 1
Hemochromatosis type 1 1 0 0 0 0 0 0 1
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts 1 0 0 0 0 0 0 1
Hereditary factor XI deficiency disease 1 0 0 0 0 0 0 1
Hereditary hemorrhagic telangiectasia type 1 0 0 1 0 0 0 0 1
Hereditary nonpolyposis colorectal cancer type 4 0 1 0 0 0 0 0 1
Hereditary nonpolyposis colorectal cancer type 7 0 0 1 0 0 0 0 1
Hermansky-Pudlak syndrome 3 0 1 0 0 0 0 0 1
Hirschsprung disease 1 0 1 0 0 0 0 0 1
Hypertelorism, Teebi type; Opitz GBBB syndrome, type II 0 1 0 0 0 0 0 1
Hypokalemic periodic paralysis 1 0 0 1 0 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 0 0 0 0 1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 1 0 0 0 0 0 0 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 1 0 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 1 0 0 0 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 1 0 0 0 0 0 1
Intellectual disability, severe 1 0 0 0 0 0 0 1
Kabuki syndrome 2 0 1 0 0 0 0 0 1
Kaufman oculocerebrofacial syndrome 0 1 0 0 0 0 0 1
Klippel-Feil syndrome 1, autosomal dominant 0 1 0 0 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 0 0 1
Lamb-shaffer syndrome 0 1 0 0 0 0 0 1
Leptin receptor deficiency 1 0 0 0 0 0 0 1
Levy-Hollister syndrome 1 0 0 0 0 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 0 0 0 1
Long QT syndrome 12 0 0 0 1 0 0 0 1
Long QT syndrome 6 0 0 1 0 0 0 0 1
Long QT syndrome 9 0 0 1 0 0 0 0 1
MEHMO syndrome 0 1 0 0 0 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 1 0 0 0 0 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 0 1 0 0 0 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 0 1 0 0 0 0 0 1
Macrocephalus 0 1 0 0 0 0 0 1
Marfan syndrome 1 0 0 0 0 0 0 1
Marshall-Smith syndrome 0 1 0 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 1 0 0 0 0 0 1
Menke-Hennekam syndrome 1 0 1 0 0 0 0 0 1
Mental retardation 49, X-linked 0 1 0 0 0 0 0 1
Mental retardation 58, X-linked 0 0 0 1 0 0 0 1
Mental retardation with language impairment and with or without autistic features 1 0 0 0 0 0 0 1
Mental retardation, X-linked 1 1 0 0 0 0 0 0 1
Mental retardation, X-linked 19 0 0 0 1 0 0 0 1
Mental retardation, X-linked 98 1 0 0 0 0 0 0 1
Mental retardation, X-linked, syndromic 33 0 1 0 0 0 0 0 1
Mental retardation, X-linked, syndromic, Turner type 1 0 0 0 0 0 0 1
Mental retardation, autosomal dominant 14 0 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 15 0 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 16 0 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 19 0 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 27 0 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 35 1 0 0 0 0 0 0 1
Mental retardation, autosomal dominant 36 0 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 39 0 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 40 0 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 43 1 0 0 0 0 0 0 1
Mental retardation, autosomal dominant 44 0 1 0 0 0 0 0 1
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 0 1 0 0 0 0 0 1
Mental retardation, autosomal recessive 13 0 1 0 0 0 0 0 1
Mental retardation, autosomal recessive 18 0 1 0 0 0 0 0 1
Mental retardation, autosomal recessive 40 0 1 0 0 0 0 0 1
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 0 1 0 0 0 0 0 1
Mental retardation, with or without seizures, ARX-related, X-linked 0 1 0 0 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 0 1 0 0 0 0 0 1
Microphthalmia, isolated, with coloboma 5 0 1 0 0 0 0 0 1
Microphthalmia, syndromic 12 0 1 0 0 0 0 0 1
Mirage syndrome 0 1 0 0 0 0 0 1
Mitochondrial complex III deficiency, nuclear type 5 1 0 0 0 0 0 0 1
Mowat-Wilson syndrome 0 1 0 0 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 0 0 1 0 0 0 1
Mulibrey nanism syndrome 0 1 0 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 1 0 0 0 0 0 0 1
Myasthenic syndrome, congenital, 20, presynaptic 0 1 0 0 0 0 0 1
Myhre syndrome 1 0 0 0 0 0 0 1
N-terminal acetyltransferase deficiency 1 0 0 0 0 0 0 1
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 0 1 0 0 0 0 0 1
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES 1 0 0 0 0 0 0 1
Nail-patella syndrome 0 1 0 0 0 0 0 1
Nance-Horan syndrome 1 0 0 0 0 0 0 1
Nephronophthisis 12 1 0 0 0 0 0 0 1
Neurodegeneration with brain iron accumulation 5 0 1 0 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 1 0 0 0 0 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 1 0 0 0 0 0 0 1
Neurofibromatosis, type 1 0 1 0 0 0 0 0 1
Noonan syndrome 1; LEOPARD syndrome 1 1 0 0 0 0 0 0 1
Noonan syndrome 7 1 0 0 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 0 0 0 0 0 1
Opitz GBBB syndrome, type II 0 1 0 0 0 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 0 0 0 0 1
Peters plus syndrome 1 0 0 0 0 0 0 1
Pfeiffer syndrome 1 0 0 0 0 0 0 1
Pigmentary pallidal degeneration 1 0 0 0 0 0 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 1 0 0 0 0 1
Poikiloderma with neutropenia 0 1 0 0 0 0 0 1
Progressive cerebellar ataxia 0 1 0 0 0 0 0 1
Protein S deficiency 0 0 1 0 0 0 0 1
RAHMAN SYNDROME 1 0 0 0 0 0 0 1
Renal dysplasia 0 1 0 0 0 0 0 1
Retinitis pigmentosa 15 1 0 0 0 0 0 0 1
Retinitis pigmentosa 4 0 1 0 0 0 0 0 1
Rett syndrome, congenital variant 0 1 0 0 0 0 0 1
SKRABAN-DEARDORFF SYNDROME 1 0 0 0 0 0 0 1
SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT 1 0 0 0 0 0 0 1
Saethre-Chotzen syndrome 1 0 0 0 0 0 0 1
Salt and pepper developmental regression syndrome 0 1 0 0 0 0 0 1
Schuurs-hoeijmakers syndrome 1 0 0 0 0 0 0 1
Scrotal hypoplasia 0 1 0 0 0 0 0 1
Seizures, benign familial infantile, 5 1 0 0 0 0 0 0 1
Seizures; Behavioral abnormality; Aplasia/Hypoplasia of the corpus callosum; Moderate global developmental delay 1 0 0 0 0 0 0 1
Seizures; Intellectual disability 1 0 0 0 0 0 0 1
Sepiapterin reductase deficiency 0 1 0 0 0 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 0 0 0 0 1
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 0 1 0 0 0 0 0 1
Sick sinus syndrome 1, autosomal recessive 1 0 0 0 0 0 0 1
Siderius X-linked mental retardation syndrome 0 1 0 0 0 0 0 1
Simpson-Golabi-Behmel syndrome 0 1 0 0 0 0 0 1
Spastic paraplegia 3 0 1 0 0 0 0 0 1
Spastic paraplegia 31, autosomal dominant 1 0 0 0 0 0 0 1
Spastic paraplegia 4, autosomal dominant 1 0 0 0 0 0 0 1
Spastic paraplegia 8 0 1 0 0 0 0 0 1
Spinocerebellar ataxia 19 0 1 0 0 0 0 0 1
Spinocerebellar ataxia 28 0 1 0 0 0 0 0 1
Spondylocostal dysostosis 1, autosomal recessive 0 1 0 0 0 0 0 1
Spondylocostal dysostosis 4, autosomal recessive 0 1 0 0 0 0 0 1
Spondyloepiphyseal dysplasia tarda 0 1 0 0 0 0 0 1
Spondyloepiphyseal dysplasia, stanescu type 1 0 0 0 0 0 0 1
Spondylometaphyseal dysplasia 1 0 0 0 0 0 0 1
Stomatin-deficient cryohydrocytosis with neurologic defects 0 1 0 0 0 0 0 1
TURNPENNY-FRY SYNDROME 1 0 0 0 0 0 0 1
Takenouchi-Kosaki syndrome 0 1 0 0 0 0 0 1
Tatton-Brown-rahman syndrome 0 1 0 0 0 0 0 1
Tay-Sachs disease 1 0 0 0 0 0 0 1
Tietz syndrome; Waardenburg syndrome type 2A 0 1 0 0 0 0 0 1
Tooth agenesis, selective, 3 0 1 0 0 0 0 0 1
Tuberous sclerosis 1 0 0 0 0 1 0 0 1
Urofacial syndrome 2 0 1 0 0 0 0 0 1
Usher syndrome, type 2C 1 0 0 0 0 0 0 1
Visceral myopathy 0 1 0 0 0 0 0 1
Wolfram-like syndrome, autosomal dominant 1 0 0 0 0 0 0 1
Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 1 0 0 0 0 0 0 1
von Willebrand disease type 1 0 1 0 0 0 0 0 1
von Willebrand disease type 2 1 0 0 0 0 0 0 1

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