ClinVar Miner

Variants from Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Location: Netherlands — 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 total
236 16 79 435 1129 1895

Gene and significance breakdown #

Total genes and gene combinations: 491
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 77 1 5 12 46 141
BRCA1 65 0 1 9 27 102
MYBPC3 15 3 10 10 15 53
LAMA4 0 0 4 23 9 36
RBM20 0 1 5 20 5 31
FRAS1 0 0 0 2 25 27
ACTN2 0 0 4 17 3 24
LDLR 12 2 0 5 5 24
MYPN 0 0 3 18 1 22
PKP2 6 0 5 8 3 22
PCNT 0 0 0 5 15 20
MSH6 4 0 1 5 9 19
NPC1 1 0 0 8 9 18
ZNF469 0 0 0 0 18 18
VPS13A 0 0 1 14 2 17
ASPM 0 0 0 1 14 15
ATP7B 1 0 2 5 7 15
GAA 0 0 0 0 15 15
LAMC3 0 0 0 2 13 15
DSC2 0 2 2 5 5 14
PCSK9 0 0 0 3 11 14
PMS2 1 0 0 3 10 14
JPH2 0 0 1 9 2 12
LAMA2 0 0 0 1 11 12
AKAP9 0 0 0 0 11 11
ALK 0 0 0 2 9 11
MLH1 2 0 1 2 6 11
NOTCH1 0 0 0 6 5 11
ADAMTS17 0 0 0 0 10 10
ADAMTS2 0 0 0 0 10 10
ANKRD1 0 0 1 5 4 10
ATP13A2 0 0 0 6 4 10
GALC 1 0 0 0 9 10
SYNE2 0 0 0 2 8 10
ADAMTSL2 0 0 0 3 6 9
MCPH1 0 0 0 0 9 9
MSH2 2 0 0 2 5 9
ATM 0 0 2 4 2 8
CALR3 0 0 2 4 2 8
DOCK6 0 0 0 0 8 8
DTNA 0 0 1 6 1 8
EYS 0 0 0 0 8 8
IGHMBP2 0 0 0 0 8 8
RELN 0 0 0 3 5 8
SGSH 6 0 0 0 2 8
SPG11 0 0 0 5 3 8
TPO 0 0 0 0 8 8
ANK2 0 0 0 1 6 7
ATP2B3 0 0 0 1 6 7
CACNA1H 0 0 0 0 7 7
DST 0 0 0 1 6 7
LAMP2 0 0 1 5 1 7
MTTP 0 0 1 4 2 7
PAH 4 1 0 0 2 7
PLCE1 0 0 0 0 7 7
PMM2 4 0 0 0 3 7
WDR62 0 0 0 1 6 7
ANK1 0 0 0 0 6 6
COQ8A 0 0 0 1 5 6
FBXO7 0 0 1 2 3 6
LOC101927870, RELN 0 0 1 0 5 6
MAP3K1 0 0 0 0 6 6
MYLK 0 0 0 0 6 6
NAGLU 2 0 0 1 3 6
PKHD1 1 0 0 1 4 6
PLCB1 0 0 0 0 6 6
ANO10 0 0 0 1 4 5
ARHGEF10 0 0 0 0 5 5
BBS12 0 0 0 0 5 5
CCDC40 0 0 0 0 5 5
CCDC40, GAA 0 0 0 0 5 5
CCT5 0 0 0 0 5 5
CP 0 0 1 3 1 5
DNAAF3, TNNI3 0 0 0 0 5 5
DUOX2 1 0 0 0 4 5
DUOXA2 0 0 0 0 5 5
GIGYF2 0 0 0 0 5 5
GLDC 0 1 0 2 2 5
GRIP1 0 0 0 0 5 5
GRM1 0 0 0 0 5 5
LTBP4 0 0 0 0 5 5
MED17 0 0 0 0 5 5
MIB1 0 1 1 3 0 5
MMUT 0 0 1 1 3 5
MYL2 0 0 0 3 2 5
MYO15A 0 0 0 0 5 5
MYOZ2 0 0 1 3 1 5
PRKCG 0 0 2 0 3 5
SACS 0 0 1 1 3 5
SLC12A6 1 1 0 0 3 5
STXBP1 0 0 0 5 0 5
TGM6 0 0 0 0 5 5
UNC13D 0 0 0 0 5 5
BBS4 0 0 0 1 3 4
BIVM-ERCC5, ERCC5 0 0 1 0 3 4
COL18A1, SLC19A1 0 0 0 0 4 4
CPLANE1 0 0 0 0 4 4
CPS1 0 0 0 0 4 4
CRTAP 0 0 0 0 4 4
DCAF17 0 0 0 0 4 4
DNAAF2 0 0 0 0 4 4
DNAI2 0 0 0 0 4 4
DOCK6, LOC105372273 0 0 0 0 4 4
FBN2 0 0 0 0 4 4
FLVCR1 0 0 0 0 4 4
GLA, RPL36A-HNRNPH2 0 0 1 3 0 4
GRIN2B 0 0 0 3 1 4
IFT140 0 0 0 0 4 4
LHB 0 0 0 0 4 4
LRSAM1 0 0 0 0 4 4
MPI 0 0 0 1 3 4
MYH2, MYHAS 0 0 0 0 4 4
NPHS1 0 0 0 0 4 4
PCDH19 0 0 0 3 1 4
PNKP 0 0 0 4 0 4
PNP 0 0 0 0 4 4
POLD1 0 0 0 4 0 4
QDPR 0 0 0 3 1 4
RANBP2 1 0 0 2 1 4
SEPTIN9 0 0 0 0 4 4
SLC6A3 0 0 0 2 2 4
SLCO1B1 0 0 0 0 4 4
SPG7 1 1 0 0 2 4
SPRED1 0 0 0 0 4 4
TAZ 0 0 0 4 0 4
TCTN2 0 0 0 0 4 4
TP53 0 0 0 0 4 4
TUBGCP6 0 0 0 0 4 4
VPS13B 0 0 0 1 3 4
ABCD1 0 0 1 0 2 3
ACVR2B 0 0 0 0 3 3
AGA 0 1 0 0 2 3
AHI1 0 0 0 1 2 3
ALMS1 0 0 0 1 2 3
AP4E1 0 0 0 0 3 3
ATM, C11orf65 0 0 2 1 0 3
BBS9 1 0 0 1 1 3
BCKDHA 0 0 0 0 3 3
BCOR 0 0 0 0 3 3
CACNA1D 0 0 0 0 3 3
CASQ2 0 0 0 0 3 3
CDK5RAP2 0 0 0 0 3 3
CLN5, FBXL3 0 1 0 1 1 3
CTDP1 0 0 0 0 3 3
DDC 0 0 0 2 1 3
DHCR7 2 0 0 0 1 3
EFTUD2 0 0 0 0 3 3
EIF2AK3 0 0 0 0 3 3
EIF4G1 0 0 0 0 3 3
ELP1 2 0 0 0 1 3
EMD 0 0 1 2 0 3
FAH 0 0 0 1 2 3
FANCD2, LOC107303338 0 0 0 1 2 3
FREM2 0 0 0 0 3 3
GALNS 1 0 0 0 2 3
GATM 0 0 0 1 2 3
GCDH 0 0 0 2 1 3
GRIN2A 0 0 0 3 0 3
HDAC4 0 0 1 2 0 3
HEXA 0 0 0 1 2 3
IGSF1 0 0 0 0 3 3
KCNC3 1 0 0 1 1 3
LEPR 0 0 0 0 3 3
LINC00630, RAB40AL 0 0 2 0 1 3
LRP2 0 0 0 2 1 3
MAN2B1 0 0 0 0 3 3
MLYCD 0 0 0 1 2 3
MYH11, NDE1 0 0 0 0 3 3
MYLK2 0 0 0 3 0 3
MYO5B 0 0 0 0 3 3
PHYH 0 0 0 0 3 3
PIGN 0 0 0 0 3 3
PPT1 1 0 0 1 1 3
PRG4 0 0 0 0 3 3
PRSS1, TRB 0 0 0 0 3 3
RETREG1 0 0 0 0 3 3
RNASEH2C 0 0 0 3 0 3
SALL1 0 0 0 0 3 3
SELENON 0 0 0 0 3 3
SERPINA1 2 0 0 0 1 3
SPTBN2 0 0 0 2 1 3
STIL 0 0 0 0 3 3
TBX20 0 0 1 1 1 3
TEK 0 0 0 0 3 3
TH 0 0 0 3 0 3
TPP1 2 0 0 0 1 3
UPK3A 0 0 0 0 3 3
AARS1 0 0 0 0 2 2
ACVRL1 0 0 0 1 1 2
ADAMTSL4 0 0 0 0 2 2
AICDA 0 0 0 0 2 2
ALDH18A1 0 0 0 1 1 2
ALG6 1 0 0 0 1 2
ALG8 0 0 0 0 2 2
AMH 0 0 0 0 2 2
AMT 0 0 0 0 2 2
APTX 0 0 0 1 1 2
ARID1A 0 0 0 2 0 2
ATP2A1 0 0 0 0 2 2
B4GALT7 0 0 0 0 2 2
BBS1, ZDHHC24 0 0 0 0 2 2
BBS7 0 0 0 0 2 2
C19orf12 0 0 0 1 1 2
C9orf72 0 0 0 0 2 2
CBS 0 0 0 0 2 2
CD3E 0 0 0 1 1 2
CD40LG 0 0 0 0 2 2
CDKL5 0 0 0 2 0 2
CDKL5, RS1 0 0 0 2 0 2
CDKN1B 0 0 0 2 0 2
CDT1 0 0 0 0 2 2
CERKL 0 0 0 0 2 2
CETP 0 0 0 0 2 2
CHRNA4 0 0 0 0 2 2
COL18A1 0 0 0 0 2 2
COQ2 0 0 0 0 2 2
CPOX 0 0 0 0 2 2
CRPPA 0 0 0 0 2 2
CTSD 0 0 0 2 0 2
CYP27A1 0 0 0 1 1 2
DLAT 0 0 0 2 0 2
DLD 0 0 0 0 2 2
DNAAF1 0 0 0 0 2 2
DPM2 0 0 0 0 2 2
DPYD 0 0 0 0 2 2
ENG 0 0 0 1 1 2
EPM2A, LOC100507557 0 0 0 1 1 2
FAM83H 0 0 0 0 2 2
FECH 0 0 0 0 2 2
FGD1 0 0 0 2 0 2
FGD4 0 0 0 0 2 2
FOLR1 1 0 0 1 0 2
FOXE1 0 0 0 0 2 2
FOXG1 0 0 0 2 0 2
GATAD1 0 0 0 1 1 2
GNS 0 0 0 0 2 2
GOSR2, LRRC37A2 1 0 0 0 1 2
GPHN 0 0 0 2 0 2
HERC2 0 0 2 0 0 2
HMBS 0 0 0 0 2 2
HSPB3 0 0 0 0 2 2
IFT140, LOC105371046 0 0 0 0 2 2
IL12RB1 0 0 0 0 2 2
INVS 0 0 0 0 2 2
IQSEC2 0 0 0 1 1 2
JAM3 0 0 0 1 1 2
KCNQ4 0 0 0 0 2 2
KIFBP 0 0 0 0 2 2
LAMA4, LOC101927640 0 0 1 1 0 2
MAP2K2 0 0 0 0 2 2
MC4R 1 0 0 1 0 2
MMAB, MVK 0 0 0 0 2 2
MTPAP 0 0 0 0 2 2
MYL3 0 0 0 2 0 2
NAGS 0 0 0 0 2 2
NCR1, NLRP7 0 0 0 0 2 2
NHLRC1 1 0 0 0 1 2
NLRP7 0 0 0 0 2 2
PAX2 0 0 0 0 2 2
PAX9 0 0 0 0 2 2
PCCA 0 0 0 0 2 2
PIK3R2 0 0 0 0 2 2
PLOD2 0 0 0 0 2 2
RAB3GAP1 0 0 0 0 2 2
RNASEH2B 1 0 0 1 0 2
RNASET2 0 0 0 0 2 2
ROBO2 0 0 0 0 2 2
SBF2 0 0 0 0 2 2
SCARF2 0 0 0 0 2 2
SDCCAG8 0 0 0 0 2 2
SERPING1 0 0 0 0 2 2
SHANK2 0 0 0 2 0 2
SHROOM4 0 0 0 2 0 2
SLC12A3 0 0 0 0 2 2
SLC19A3 0 0 0 2 0 2
SLC6A5 0 0 0 0 2 2
SLC6A8 0 0 0 1 1 2
SLC9A6 0 0 0 1 1 2
SNAP29 0 0 0 0 2 2
SP7 0 0 0 0 2 2
SPINK5 0 0 0 2 0 2
SQSTM1 0 0 0 0 2 2
ST14 0 0 0 0 2 2
SYNGAP1 1 0 0 1 0 2
SYT14 0 0 0 0 2 2
TTPA 1 0 0 0 1 2
VCAN 0 0 0 0 2 2
VRK1 0 0 0 0 2 2
WDR81 0 0 0 0 2 2
ZNF592 0 0 0 0 2 2
ABHD12 0 0 0 0 1 1
ACBD6, LHX4 0 0 0 0 1 1
ACTN4 0 0 0 0 1 1
ADAMTS10 0 0 0 0 1 1
AGL 0 0 0 0 1 1
AGTR2 0 0 0 1 0 1
ALAD 0 0 0 0 1 1
ALDH3A2 0 0 0 1 0 1
ALDH5A1 0 0 0 0 1 1
ALDH7A1 0 0 0 1 0 1
ANKRD11 1 0 0 0 0 1
ANO3 0 0 0 1 0 1
AP4B1 0 0 0 1 0 1
APOC3 0 0 0 0 1 1
AQP2 0 0 0 0 1 1
ARFGEF2 0 0 0 0 1 1
ARG1, MED23 0 0 0 0 1 1
ARHGEF6 0 0 0 1 0 1
ARL13B 0 0 0 0 1 1
ARSE 0 0 0 1 0 1
ASS1 0 0 0 0 1 1
ATCAY 0 0 1 0 0 1
AXDND1, NPHS2 0 0 0 0 1 1
B9D1 0 0 0 0 1 1
B9D2 0 0 0 0 1 1
BBS1 0 0 0 0 1 1
BBS2 0 0 0 0 1 1
BLM 0 0 0 0 1 1
BRWD3 0 0 0 1 0 1
BTD 0 0 0 0 1 1
CACNB2 0 0 0 0 1 1
CACNB2, NSUN6 0 0 0 0 1 1
CASD1, SGCE 0 0 0 0 1 1
CASQ2, VANGL1 0 0 0 0 1 1
CBL 0 0 0 0 1 1
CC2D1A 0 0 1 0 0 1
CCBE1 0 0 0 0 1 1
CCDC39 0 0 0 0 1 1
CCDC39, TTC14 0 0 0 0 1 1
CCDC88C 0 0 0 1 0 1
CD2AP 0 0 0 0 1 1
CD3D 0 0 0 0 1 1
CD40 0 0 0 0 1 1
CEP135 1 0 0 0 0 1
CHRNA2 0 0 0 1 0 1
CHRNB2 0 0 0 1 0 1
CHROMR, PRKRA 0 0 0 1 0 1
CHST3 0 0 0 0 1 1
CLCN2 0 0 0 0 1 1
CNGB1 0 0 0 0 1 1
COCH, LOC100506071 0 0 0 0 1 1
COQ2, LOC112997540 0 0 0 0 1 1
CPT1A 0 0 0 0 1 1
CUL4B 0 0 0 1 0 1
CYP24A1 0 0 0 0 1 1
CYP2B6 0 0 0 0 1 1
CYP4V2 0 0 0 0 1 1
DAG1 0 0 0 0 1 1
DGUOK 0 0 0 0 1 1
DHFR, MSH3 0 0 0 0 1 1
DIAPH1 0 0 0 0 1 1
DIAPH3 0 0 0 0 1 1
DKC1 0 0 0 1 0 1
DLG3 0 0 0 1 0 1
DMPK 0 0 0 0 1 1
DNAAF2, MGAT2 0 0 0 0 1 1
DNAI1 0 0 0 0 1 1
DNMT3B 0 0 0 1 0 1
DPAGT1, HMBS 0 0 0 0 1 1
DSC2, DSCAS 0 0 0 0 1 1
EFEMP2 0 0 0 0 1 1
EIF2AK3, LOC101928371 0 0 0 0 1 1
ENG, LOC102723566 0 0 0 1 0 1
EXOSC3 0 0 0 0 1 1
FA2H 0 0 0 0 1 1
FAM161A 0 0 0 0 1 1
FERMT3 0 0 0 1 0 1
FXN 0 0 0 0 1 1
GABRD 0 0 0 1 0 1
GALT 0 0 0 0 1 1
GAMT 0 0 0 0 1 1
GCDH, SYCE2 0 0 0 0 1 1
GLI2 0 0 0 0 1 1
GLRA1 0 0 0 0 1 1
GRIA3 0 0 0 0 1 1
GUSB 0 0 1 0 0 1
HARS1 0 0 0 0 1 1
HCFC1 0 0 0 1 0 1
HEXB 0 0 1 0 0 1
HGSNAT 0 0 0 0 1 1
IDS, LOC106050102 0 0 0 0 1 1
IFITM5 0 0 0 0 1 1
IFT122 0 0 0 0 1 1
IL10RA 0 0 0 0 1 1
IL17RA 0 0 0 0 1 1
ITGA3 0 0 0 0 1 1
IVD 0 0 0 0 1 1
IYD 0 0 0 0 1 1
KCNA1 0 0 0 0 1 1
KCNA5 0 0 0 0 1 1
KCNMA1 0 0 0 0 1 1
KCNQ3 1 0 0 0 0 1
KDM6A 0 0 0 1 0 1
KDR 0 0 0 0 1 1
KMT2D 0 0 0 0 1 1
KRT6B 0 0 0 0 1 1
LDLR, MIR6886 1 0 0 0 0 1
LDLRAP1 0 0 0 0 1 1
LIPA 0 0 0 0 1 1
LITAF 0 0 0 0 1 1
LMBRD1 0 0 0 0 1 1
LOC108663996, TBP 0 0 0 1 0 1
LOC114827850, MYL2 1 0 0 0 0 1
LOXHD1 0 0 0 0 1 1
LRRC6 0 0 0 0 1 1
MAF, WWOX 0 0 0 0 1 1
MMAA 0 0 0 0 1 1
MMAB 0 0 0 0 1 1
MMADHC 0 0 0 0 1 1
MOCS1 0 0 0 1 0 1
MTM1 0 0 0 0 1 1
MTMR2 0 0 0 0 1 1
MYO5B, SNHG22 0 0 0 0 1 1
NAA10 1 0 0 0 0 1
NDRG1 0 0 0 0 1 1
NDUFS1 0 0 0 1 0 1
NEB 0 0 0 0 1 1
NECTIN1 0 0 0 0 1 1
NEK1 0 0 0 0 1 1
NFKBIA 0 0 0 1 0 1
NGF 0 0 0 0 1 1
NIPA1 0 0 0 0 1 1
NIPBL 0 0 0 1 0 1
NLRP12 0 0 0 0 1 1
NNT 1 0 0 0 0 1
NPC2 0 0 0 1 0 1
NPHS2 0 0 0 0 1 1
OCLN 0 0 0 1 0 1
OPHN1 0 0 0 1 0 1
PCK1 0 0 0 0 1 1
PDYN 0 0 0 0 1 1
PEPD 0 0 0 0 1 1
PHGDH 0 0 0 0 1 1
PHKA2 0 0 0 1 0 1
PNKD 0 0 0 1 0 1
PNPLA6 0 0 0 1 0 1
POLH 0 0 0 0 1 1
PRF1 0 0 0 0 1 1
PRICKLE2 0 0 0 0 1 1
PROP1 0 0 0 0 1 1
PSENEN 0 0 0 0 1 1
PSMB8 0 0 0 0 1 1
RAD50 0 0 0 0 1 1
RAI1 0 0 0 0 1 1
RFXAP 0 0 0 1 0 1
ROGDI 0 0 0 1 0 1
SBDS 0 0 0 0 1 1
SCARB2 0 0 0 0 1 1
SERPINF1 0 0 0 0 1 1
SGCG 0 0 0 0 1 1
SH3BP2 0 0 0 0 1 1
SIL1 0 0 0 0 1 1
SIX5 0 0 0 0 1 1
SLC20A2 0 0 0 1 0 1
SLC34A3 0 0 0 0 1 1
SLC5A5 0 0 0 0 1 1
SLC9A3R1 0 0 0 0 1 1
SMARCA2 0 0 0 0 1 1
SMS 0 0 0 1 0 1
SNHG14, UBE3A 0 0 0 0 1 1
SPAST 0 0 0 1 0 1
SPTAN1 0 0 0 1 0 1
SPTLC1 0 0 0 0 1 1
SPTLC2 0 0 0 0 1 1
SRPX2 0 0 0 1 0 1
STRADA 0 0 0 0 1 1
STXBP2 0 0 0 0 1 1
SUFU 0 0 0 1 0 1
SUOX 0 0 0 0 1 1
TBX5 0 0 0 0 1 1
TGFB2 0 0 0 0 1 1
TLR3 0 0 0 0 1 1
TMEM127 0 0 0 1 0 1
TMEM231 0 0 0 0 1 1
TNNI2 0 0 0 0 1 1
TNNT1 0 0 0 0 1 1
TNNT3 0 0 0 0 1 1
TOR1A 0 0 0 1 0 1
TREM2 1 0 0 0 0 1
TRIOBP 0 0 0 0 1 1
TSHB 0 0 0 0 1 1
TTC19 0 0 0 1 0 1
UBA1 0 0 0 0 1 1
WDPCP 0 0 0 0 1 1
WDR45 0 0 0 1 0 1
WWOX 0 0 0 0 1 1
XDH 0 0 0 0 1 1
XIAP 0 0 0 0 1 1
ZEB2 0 0 0 0 1 1
ZFYVE26 0 0 0 1 0 1
ZIC2 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 454
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Breast-ovarian cancer, familial 2 77 1 5 12 46 141
Breast-ovarian cancer, familial 1 65 0 1 9 27 102
Familial hypertrophic cardiomyopathy 4 15 3 10 10 15 53
Dilated cardiomyopathy 1JJ 0 0 5 24 9 38
Cryptophthalmos syndrome 0 0 0 2 33 35
Dilated cardiomyopathy 1DD 0 1 5 20 5 31
Familial hypercholesterolemia 13 2 0 5 5 25
Dilated cardiomyopathy 1AA 0 0 4 17 3 24
Arrhythmogenic right ventricular cardiomyopathy, type 9 6 0 5 8 3 22
Dilated cardiomyopathy 1KK 0 0 3 18 1 22
Microcephalic osteodysplastic primordial dwarfism type 2 0 0 0 5 15 20
Bardet-Biedl syndrome 1 1 0 0 2 16 19
Hereditary nonpolyposis colorectal cancer type 5 4 0 1 5 9 19
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 0 0 0 0 18 18
Niemann-Pick disease type C1 1 0 0 8 9 18
Choreoacanthocytosis 0 0 1 14 2 17
Glycogen storage disease, type II 0 0 0 0 16 16
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 2 2 5 6 15
Cortical malformations, occipital 0 0 0 2 13 15
Primary autosomal recessive microcephaly 5 0 0 0 1 14 15
Wilson disease 1 0 2 5 7 15
Hereditary nonpolyposis colorectal cancer type 4 1 0 0 3 10 14
Hypercholesterolemia, autosomal dominant, 3 0 0 0 3 11 14
Lissencephaly 2 0 0 1 3 10 14
Adams-Oliver syndrome 2 0 0 0 0 12 12
Familial hypertrophic cardiomyopathy 17 0 0 1 9 2 12
Merosin deficient congenital muscular dystrophy 0 0 0 1 11 12
Aortic valve disorder 0 0 0 6 5 11
Ataxia-telangiectasia syndrome 0 0 4 5 2 11
Long QT syndrome 11 0 0 0 0 11 11
Lynch syndrome II 2 0 1 2 6 11
Neuroblastoma 3 0 0 0 2 9 11
Ehlers-Danlos syndrome, type vii, autosomal recessive 0 0 0 0 10 10
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 0 2 8 10
Galactosylceramide beta-galactosidase deficiency 1 0 0 0 9 10
Parkinson disease 9 0 0 0 6 4 10
Total anomalous pulmonary venous return 0 0 1 5 4 10
Weill-Marchesani-like syndrome 0 0 0 0 10 10
Ciliary dyskinesia, primary, 15 0 0 0 0 9 9
Geleophysic dysplasia 1 0 0 0 3 6 9
Lynch syndrome I 2 0 0 2 5 9
Primary autosomal recessive microcephaly 1 0 0 0 0 9 9
Deficiency of iodide peroxidase 0 0 0 0 8 8
Familial hypertrophic cardiomyopathy 19 0 0 2 4 2 8
Left ventricular noncompaction 1 0 0 1 6 1 8
Mucopolysaccharidosis, MPS-III-A 6 0 0 0 2 8
Retinitis pigmentosa 25 0 0 0 0 8 8
Spastic paraplegia 11, autosomal recessive 0 0 0 5 3 8
Spinal muscular atrophy, distal, autosomal recessive, 1 0 0 0 0 8 8
Abetalipoproteinaemia 0 0 1 4 2 7
Carbohydrate-deficient glycoprotein syndrome type I 4 0 0 0 3 7
Cardiac arrhythmia, ankyrin B-related 0 0 0 1 6 7
Danon disease 0 0 1 5 1 7
Epilepsy, childhood absence 6 0 0 0 0 7 7
Nephrotic syndrome, type 3 0 0 0 0 7 7
Neuropathy, hereditary sensory and autonomic, type VI 0 0 0 1 6 7
Non-ketotic hyperglycinemia 0 1 0 2 4 7
Phenylketonuria 4 1 0 0 2 7
Primary autosomal recessive microcephaly 2 0 0 0 1 6 7
Spinocerebellar ataxia, X-linked 1 0 0 0 1 6 7
46,XY sex reversal, type 6 0 0 0 0 6 6
Aortic aneurysm, familial thoracic 7 0 0 0 0 6 6
Autosomal recessive polycystic kidney disease 1 0 0 1 4 6
Coenzyme Q10 deficiency, primary, 4 0 0 0 1 5 6
Early infantile epileptic encephalopathy 12 0 0 0 0 6 6
Familial hypertrophic cardiomyopathy 10 1 0 0 3 2 6
Knobloch syndrome 1 0 0 0 0 6 6
Mucopolysaccharidosis, MPS-III-B 2 0 0 1 3 6
Parkinson disease 15 0 0 1 2 3 6
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 0 0 0 0 6 6
Spherocytosis type 1 0 0 0 0 6 6
Andermann syndrome 1 1 0 0 3 5
Ciliary dyskinesia, primary, 10 0 0 0 0 5 5
Ciliary dyskinesia, primary, 2 0 0 0 0 5 5
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 0 0 0 0 5 5
Deafness, autosomal recessive 3 0 0 0 0 5 5
Deficiency of ferroxidase 0 0 1 3 1 5
Early infantile epileptic encephalopathy 4 0 0 0 5 0 5
Familial hypertrophic cardiomyopathy 16 0 0 1 3 1 5
Hemophagocytic lymphohistiocytosis, familial, 3 0 0 0 0 5 5
Left ventricular noncompaction 7 0 1 1 3 0 5
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 0 1 1 3 5
Microcephaly, postnatal progressive, with seizures and brain atrophy 0 0 0 0 5 5
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 0 0 0 0 5 5
Parkinson disease 11 0 0 0 0 5 5
Slowed nerve conduction velocity, autosomal dominant 0 0 0 0 5 5
Spastic ataxia Charlevoix-Saguenay type 0 0 1 1 3 5
Spinocerebellar ataxia 14 0 0 2 0 3 5
Spinocerebellar ataxia 35 0 0 0 0 5 5
Spinocerebellar ataxia, autosomal recessive 10 0 0 0 1 4 5
Spinocerebellar ataxia, autosomal recessive 13 0 0 0 0 5 5
Thyroglobulin synthesis defect 0 0 0 0 5 5
Thyroid dyshormonogenesis 6 1 0 0 0 4 5
3-Methylglutaconic aciduria type 2 0 0 0 4 0 4
Amyotrophy, hereditary neuralgic 0 0 0 0 4 4
Charcot-Marie-Tooth disease type 2P 0 0 0 0 4 4
Ciliary dyskinesia, primary, 9 0 0 0 0 4 4
Cohen syndrome 0 0 0 1 3 4
Colorectal cancer 10 0 0 0 4 0 4
Congenital contractural arachnodactyly 0 0 0 0 4 4
Congenital disorder of glycosylation type 1B 0 0 0 1 3 4
Congenital hyperammonemia, type I 0 0 0 0 4 4
Congenital microvillous atrophy 0 0 0 0 4 4
Dihydropteridine reductase deficiency 0 0 0 3 1 4
Early infantile epileptic encephalopathy 10 0 0 0 4 0 4
Early infantile epileptic encephalopathy 2 0 0 0 4 0 4
Early infantile epileptic encephalopathy 9 0 0 0 3 1 4
Encephalopathy, acute, infection-induced, 3, suceptibility to 1 0 0 2 1 4
Fabry disease 0 0 1 3 0 4
Finnish congenital nephrotic syndrome 0 0 0 0 4 4
Glutaric aciduria, type 1 0 0 0 2 2 4
Hydatidiform mole 0 0 0 0 4 4
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 0 0 0 0 4 4
Inclusion body myopathy 3 0 0 0 0 4 4
Infantile Parkinsonism-dystonia 0 0 0 2 2 4
Isolated lutropin deficiency 0 0 0 0 4 4
Joubert syndrome 17 0 0 0 0 4 4
Lafora disease 1 0 0 1 2 4
Legius syndrome 0 0 0 0 4 4
Li-Fraumeni syndrome 1 0 0 0 0 4 4
Meckel syndrome type 8 0 0 0 0 4 4
Mental retardation, autosomal dominant 6 0 0 0 3 1 4
Microcephaly with chorioretinopathy, autosomal recessive 0 0 0 0 4 4
Osteogenesis imperfecta type 7 0 0 0 0 4 4
Posterior column ataxia with retinitis pigmentosa 0 0 0 0 4 4
Purine-nucleoside phosphorylase deficiency 0 0 0 0 4 4
Rotor syndrome 0 0 0 0 4 4
Spastic paraplegia 7 1 1 0 0 2 4
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 0 0 0 4 4
Wolcott-Rallison dysplasia 0 0 0 0 4 4
Xeroderma pigmentosum, group G 0 0 1 0 3 4
Acute intermittent porphyria 0 0 0 0 3 3
Adrenoleukodystrophy 0 0 1 0 2 3
Aicardi Goutieres syndrome 3 0 0 0 3 0 3
Alpha-1-antitrypsin deficiency 2 0 0 0 1 3
Alstrom syndrome 0 0 0 1 2 3
Aortic aneurysm, familial thoracic 4 0 0 0 0 3 3
Arginine:glycine amidinotransferase deficiency 0 0 0 1 2 3
Aspartylglucosaminuria 0 1 0 0 2 3
Atrial septal defect 4 0 0 1 1 1 3
Brachydactyly-Mental Retardation syndrome 0 0 1 2 0 3
Camptodactyly arthropathy coxa vara pericarditis syndrome 0 0 0 0 3 3
Ceroid lipofuscinosis neuronal 1 1 0 0 1 1 3
Ceroid lipofuscinosis neuronal 2 2 0 0 0 1 3
Ceroid lipofuscinosis neuronal 5 0 1 0 1 1 3
Coenzyme Q10 deficiency, primary 1 0 0 0 0 3 3
Congenital Cataracts, Facial Dysmorphism, and Neuropathy 0 0 0 0 3 3
Deficiency of alpha-mannosidase 0 0 0 0 3 3
Deficiency of aromatic-L-amino-acid decarboxylase 0 0 0 2 1 3
Deficiency of malonyl-CoA decarboxylase 0 0 0 1 2 3
Donnai Barrow syndrome 0 0 0 2 1 3
Eichsfeld type congenital muscular dystrophy 0 0 0 0 3 3
Emery-Dreifuss muscular dystrophy 1, X-linked 0 0 1 2 0 3
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 0 3 0 3
Familial dysautonomia 2 0 0 0 1 3
Familial hypertrophic cardiomyopathy 1 0 0 0 3 0 3
Fanconi anemia, complementation group D2 0 0 0 1 2 3
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 0 0 0 0 3 3
Hereditary pancreatitis 0 0 0 0 3 3
Hereditary sensory and autonomic neuropathy type IIB 0 0 0 0 3 3
Heterotaxy, visceral, 4, autosomal 0 0 0 0 3 3
Hypothyroidism, central, and testicular enlargement 0 0 0 0 3 3
Joubert syndrome 3 0 0 0 1 2 3
Leptin receptor deficiency 0 0 0 0 3 3
Maple syrup urine disease 0 0 0 0 3 3
Mental retardation, X-linked, syndromic, martin-probst type 0 0 2 0 1 3
Methylmalonic aciduria cblB type 0 0 0 0 3 3
Molybdenum cofactor deficiency, complementation group A 0 0 0 3 0 3
Mucopolysaccharidosis, MPS-IV-A 1 0 0 0 2 3
Multiple Cutaneous and Mucosal Venous Malformations 0 0 0 0 3 3
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 0 3 3
Oculofaciocardiodental syndrome 0 0 0 0 3 3
Osler hemorrhagic telangiectasia syndrome 0 0 0 2 1 3
Parkinson disease 18 0 0 0 0 3 3
Phytanic acid storage disease 0 0 0 0 3 3
Primary autosomal recessive microcephaly 3 0 0 0 0 3 3
Primary autosomal recessive microcephaly 7 0 0 0 0 3 3
Renal adysplasia 0 0 0 0 3 3
Segawa syndrome, autosomal recessive 0 0 0 3 0 3
Sinoatrial node dysfunction and deafness 0 0 0 0 3 3
Smith-Lemli-Opitz syndrome 2 0 0 0 1 3
Spastic paraplegia 51, autosomal recessive 0 0 0 0 3 3
Spinocerebellar ataxia 13 1 0 0 1 1 3
Spinocerebellar ataxia 5 0 0 0 2 1 3
Tay-Sachs disease 0 0 0 1 2 3
Townes-Brocks syndrome 1 0 0 0 0 3 3
Tyrosinemia type I 0 0 0 1 2 3
Aarskog syndrome 0 0 0 2 0 2
Aicardi Goutieres syndrome 2 1 0 0 1 0 2
Amelogenesis imperfecta, hypocalcification type 0 0 0 0 2 2
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 0 2 2
Ataxia with vitamin E deficiency 1 0 0 0 1 2
Ataxia, spastic, 4, autosomal recessive 0 0 0 0 2 2
Ataxia-oculomotor apraxia type 1 0 0 0 1 1 2
Autism 17 0 0 0 2 0 2
Bamforth syndrome 0 0 0 0 2 2
Biotin-thiamine-responsive basal ganglia disease 0 0 0 2 0 2
Brody myopathy 0 0 0 0 2 2
Bruck syndrome 2 0 0 0 0 2 2
Brugada syndrome 4 0 0 0 0 2 2
Cardiofaciocutaneous syndrome 4 0 0 0 0 2 2
Cardiomyopathy, dilated, 2b 0 0 0 1 1 2
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 0 0 0 0 2 2
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 0 0 0 0 2 2
Cerebral folate deficiency 1 0 0 1 0 2
Ceroid lipofuscinosis neuronal 10 0 0 0 2 0 2
Charcot-Marie-Tooth disease, type 2N 0 0 0 0 2 2
Charcot-Marie-Tooth disease, type 4B2 0 0 0 0 2 2
Charcot-Marie-Tooth disease, type 4H 0 0 0 0 2 2
Cholestanol storage disease 0 0 0 1 1 2
Christianson syndrome 0 0 0 1 1 2
Ciliary dyskinesia, primary, 13 0 0 0 0 2 2
Ciliary dyskinesia, primary, 14 0 0 0 0 2 2
Congenital disorder of glycosylation type 1C 1 0 0 0 1 2
Congenital disorder of glycosylation type 1H 0 0 0 0 2 2
Congenital disorder of glycosylation type 1u 0 0 0 0 2 2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 0 0 0 0 2 2
Creatine deficiency, X-linked 0 0 0 1 1 2
Cutis laxa-corneal clouding-oligophrenia syndrome 0 0 0 1 1 2
DFNA 2 Nonsyndromic Hearing Loss 0 0 0 0 2 2
Dihydropyrimidine dehydrogenase deficiency 0 0 0 0 2 2
Disseminated atypical mycobacterial infection 0 0 0 0 2 2
Distal arthrogryposis type 2B 0 0 0 0 2 2
Distal hereditary motor neuronopathy type 2C 0 0 0 0 2 2
Ectopia lentis et pupillae 0 0 0 0 2 2
Ehlers-Danlos syndrome progeroid type 0 0 0 0 2 2
Epilepsy, nocturnal frontal lobe, type 1 0 0 0 0 2 2
Epilepsy, progressive myoclonic 6 1 0 0 0 1 2
Erythropoietic protoporphyria 0 0 0 0 2 2
Familial hypertrophic cardiomyopathy 8 0 0 0 2 0 2
Familial hypokalemia-hypomagnesemia 0 0 0 0 2 2
Galloway-Mowat syndrome 1 0 0 0 0 2 2
Goldberg-Shprintzen megacolon syndrome 0 0 0 0 2 2
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts 0 0 0 1 1 2
Hereditary angioedema type 1 0 0 0 0 2 2
Hereditary coproporphyria 0 0 0 0 2 2
Hereditary hemorrhagic telangiectasia type 2 0 0 0 1 1 2
Homocystinuria due to CBS deficiency 0 0 0 0 2 2
Hyperalphalipoproteinemia 1 0 0 0 0 2 2
Hyperammonemia, type III 0 0 0 0 2 2
Hyperekplexia 3 0 0 0 0 2 2
Ichthyosis, congenital, autosomal recessive 11 0 0 0 0 2 2
Immunodeficiency 18 0 0 0 1 1 2
Immunodeficiency with hyper IgM type 1 0 0 0 0 2 2
Immunodeficiency with hyper IgM type 2 0 0 0 0 2 2
Infantile nephronophthisis 0 0 0 0 2 2
Leukoencephalopathy, cystic, without megalencephaly 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 2 2
Maple syrup urine disease, type 3 0 0 0 0 2 2
Marden Walker like syndrome 0 0 0 0 2 2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 0 0 0 2 2
Meier-Gorlin syndrome 4 0 0 0 0 2 2
Mental retardation, X-linked 1 0 0 0 1 1 2
Mental retardation, autosomal dominant 14 0 0 0 2 0 2
Mental retardation, autosomal dominant 5 1 0 0 1 0 2
Mucopolysaccharidosis, MPS-III-D 0 0 0 0 2 2
Multiple endocrine neoplasia, type 4 0 0 0 2 0 2
Nephrotic syndrome, idiopathic, steroid-resistant 0 0 0 0 2 2
Netherton syndrome 0 0 0 2 0 2
Neurodegeneration with brain iron accumulation 4 0 0 0 1 1 2
Obesity 1 0 0 1 0 2
Osteogenesis imperfecta type 12 0 0 0 0 2 2
Paget disease of bone 2, early-onset 0 0 0 0 2 2
Persistent Mullerian duct syndrome 0 0 0 0 2 2
Pontocerebellar hypoplasia type 1A 0 0 0 0 2 2
Propionyl-CoA carboxylase deficiency 0 0 0 0 2 2
Pyruvate dehydrogenase E2 deficiency 0 0 0 2 0 2
Renal coloboma syndrome 0 0 0 0 2 2
Retinitis pigmentosa 26 0 0 0 0 2 2
Rett syndrome, congenital variant 0 0 0 2 0 2
Senior-Loken syndrome 7 0 0 0 0 2 2
Skin/hair/eye pigmentation, variation in, 1 0 0 2 0 0 2
Spinocerebellar ataxia, autosomal recessive 11 0 0 0 0 2 2
Stocco dos Santos syndrome 0 0 0 2 0 2
Tooth agenesis, selective, 3 0 0 0 0 2 2
Vesicoureteral reflux 2 0 0 0 0 2 2
Wagner syndrome 0 0 0 0 2 2
Warburg micro syndrome 1 0 0 0 0 2 2
Acne inversa, familial, 2 0 0 0 0 1 1
Angelman syndrome 0 0 0 0 1 1
Arginase deficiency 0 0 0 0 1 1
Atrial fibrillation, familial, 7 0 0 0 0 1 1
Auditory neuropathy, autosomal dominant, 1 0 0 0 0 1 1
Autosomal recessive cutis laxa type 1B 0 0 0 0 1 1
Autosomal recessive hypophosphatemic bone disease 0 0 0 0 1 1
Band-like calcification with simplified gyration and polymicrogyria 0 0 0 1 0 1
Bare lymphocyte syndrome 2 0 0 0 1 0 1
Benign familial neonatal seizures 2 1 0 0 0 0 1
Bietti crystalline corneoretinal dystrophy 0 0 0 0 1 1
Biotinidase deficiency 0 0 0 0 1 1
Bloom syndrome 0 0 0 0 1 1
Branchiootorenal syndrome 2 0 0 0 0 1 1
Carnitine palmitoyltransferase I deficiency 0 0 0 0 1 1
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 0 0 0 1 0 1
Cerebellar ataxia, Cayman type 0 0 1 0 0 1
Charcot-Marie-Tooth disease, type 1C 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 4B1 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 4D 0 0 0 0 1 1
Chondrodysplasia punctata 1, X-linked recessive 0 0 0 1 0 1
Ciliary dyskinesia, primary, 19 0 0 0 0 1 1
Citrullinemia type I 0 0 0 0 1 1
Cleft lip/palate-ectodermal dysplasia syndrome 0 0 0 0 1 1
Congenital hydrocephalus 1 0 0 0 1 0 1
Congenital sensory neuropathy with selective loss of small myelinated fibers 0 0 0 0 1 1
Cornelia de Lange syndrome 1 0 0 0 1 0 1
Cranioectodermal dysplasia 1 0 0 0 0 1 1
Deafness, autosomal dominant 1 0 0 0 0 1 1
Deafness, autosomal dominant 9 0 0 0 0 1 1
Deafness, autosomal recessive 28 0 0 0 0 1 1
Deafness, autosomal recessive 77 0 0 0 0 1 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 0 0 0 1 1
Deficiency of guanidinoacetate methyltransferase 0 0 0 0 1 1
Deficiency of xanthine oxidase 0 0 0 0 1 1
Dyskeratosis congenita X-linked 0 0 0 1 0 1
Dystonia 1 0 0 0 1 0 1
Dystonia 16 0 0 0 1 0 1
Dystonia 24 0 0 0 1 0 1
Early infantile epileptic encephalopathy 5 0 0 0 1 0 1
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant 0 0 0 1 0 1
Efavirenz response 0 0 0 0 1 1
Endometrial carcinoma 0 0 0 0 1 1
Epilepsy with grand mal seizures on awakening 0 0 0 0 1 1
Epilepsy, idiopathic generalized 10 0 0 0 1 0 1
Epilepsy, nocturnal frontal lobe, type 3 0 0 0 1 0 1
Epilepsy, nocturnal frontal lobe, type 4 0 0 0 1 0 1
Epilepsy, progressive myoclonic 4, with or without renal failure 0 0 0 0 1 1
Epilepsy, progressive myoclonic 5 0 0 0 0 1 1
Episodic ataxia type 1 0 0 0 0 1 1
Familial cold autoinflammatory syndrome 2 0 0 0 0 1 1
Fibrous dysplasia of jaw 0 0 0 0 1 1
Focal segmental glomerulosclerosis 1 0 0 0 0 1 1
Focal segmental glomerulosclerosis 3, susceptibility to 0 0 0 0 1 1
Friedreich ataxia 1 0 0 0 0 1 1
Generalized epilepsy and paroxysmal dyskinesia 0 0 0 0 1 1
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 1 0 0 0 0 1
Glycogen storage disease type III 0 0 0 0 1 1
Glycogen storage disease type IXa1 0 0 0 1 0 1
Hemangioma, capillary infantile 0 0 0 0 1 1
Hemophagocytic lymphohistiocytosis, familial, 2 0 0 0 0 1 1
Hemophagocytic lymphohistiocytosis, familial, 5 0 0 0 0 1 1
Hennekam lymphangiectasia-lymphedema syndrome 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IC 0 0 0 0 1 1
Herpes simplex encephalitis 2 0 0 0 0 1 1
Heterotopia, periventricular, autosomal recessive 0 0 0 0 1 1
Holoprosencephaly 5 0 0 0 1 0 1
Holoprosencephaly 9 0 0 0 0 1 1
Holt-Oram syndrome 0 0 0 0 1 1
Hyperalphalipoproteinemia 2 0 0 0 0 1 1
Hypercholesterolemia, autosomal recessive 0 0 0 0 1 1
Hyperekplexia hereditary 0 0 0 0 1 1
Idiopathic basal ganglia calcification 1 0 0 0 1 0 1
Idiopathic hypercalcemia of infancy 0 0 0 0 1 1
Immunodeficiency 51 0 0 0 0 1 1
Immunodeficiency with hyper IgM type 3 0 0 0 0 1 1
Inflammatory bowel disease 28, autosomal recessive 0 0 0 0 1 1
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 0 0 0 0 1 1
Iodotyrosine deiodination defect 0 0 0 0 1 1
Isovaleryl-CoA dehydrogenase deficiency 0 0 0 0 1 1
Joubert syndrome 20 0 0 0 0 1 1
Joubert syndrome 8 0 0 0 0 1 1
KBG syndrome 1 0 0 0 0 1
Kabuki syndrome 1 0 0 0 0 1 1
Kabuki syndrome 2 0 0 0 1 0 1
Kartagener syndrome 0 0 0 0 1 1
Kohlschutter's syndrome 0 0 0 1 0 1
Leukocyte adhesion deficiency, type III 0 0 0 1 0 1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 0 0 0 0 1 1
Loeys-Dietz syndrome 4 0 0 0 0 1 1
Lymphoproliferative syndrome 2, X-linked 0 0 0 0 1 1
Lysosomal acid lipase deficiency 0 0 0 0 1 1
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE 0 0 0 0 1 1
Marinesco-Sjögren syndrome 0 0 0 0 1 1
Meckel syndrome, type 10 0 0 0 0 1 1
Meckel syndrome, type 9 0 0 0 0 1 1
Medulloblastoma 0 0 0 1 0 1
Mental retardation 3, X-linked 0 0 0 1 0 1
Mental retardation 46, X-linked 0 0 0 1 0 1
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance 0 0 0 1 0 1
Mental retardation, X-linked 93 0 0 0 1 0 1
Mental retardation, X-linked, syndromic, wu type 0 0 0 0 1 1
Mental retardation, autosomal recessive 18 0 0 0 0 1 1
Mental retardation, autosomal recessive 3 0 0 1 0 0 1
Methylmalonic acidemia with homocystinuria cblD 0 0 0 0 1 1
Methylmalonic aciduria cblA type 0 0 0 0 1 1
Mitochondrial DNA-depletion syndrome 3, hepatocerebral 0 0 0 0 1 1
Mitochondrial complex I deficiency 0 0 0 1 0 1
Mitochondrial complex III deficiency, nuclear type 2 0 0 0 1 0 1
Mowat-Wilson syndrome 0 0 0 0 1 1
Mucopolysaccharidosis type VII 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-II 0 0 0 0 1 1
Mucopolysaccharidosis, MPS-III-C 0 0 0 0 1 1
Myoclonic dystonia 0 0 0 0 1 1
N-terminal acetyltransferase deficiency 1 0 0 0 0 1
Nakajo syndrome 0 0 0 0 1 1
Nemaline myopathy 2 0 0 0 0 1 1
Nemaline myopathy 5 0 0 0 0 1 1
Nephrogenic diabetes insipidus, autosomal 0 0 0 0 1 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2 0 0 0 0 1 1
Neurodegeneration with brain iron accumulation 5 0 0 0 1 0 1
Neuropathy hereditary sensory and autonomic type 1 0 0 0 0 1 1
Nicolaides-Baraitser syndrome 0 0 0 0 1 1
Niemann-Pick disease type C2 0 0 0 1 0 1
Nijmegen breakage syndrome-like disorder 0 0 0 0 1 1
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 0 0 0 1 1
Osteogenesis imperfecta type 5 0 0 0 0 1 1
Osteogenesis imperfecta, type VI 0 0 0 0 1 1
Pachyonychia congenita 2 0 0 0 0 1 1
Paroxysmal nonkinesigenic dyskinesia 1 0 0 0 1 0 1
Pheochromocytoma 0 0 0 1 0 1
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0 0 0 0 1 1
Phosphoglycerate dehydrogenase deficiency 0 0 0 0 1 1
Pituitary hormone deficiency, combined 2 0 0 0 0 1 1
Pituitary hormone deficiency, combined 4 0 0 0 0 1 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 0 0 0 0 1
Polyhydramnios, megalencephaly, and symptomatic epilepsy 0 0 0 0 1 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 0 1 1
Pontocerebellar hypoplasia, type 1b 0 0 0 0 1 1
Porphobilinogen synthase deficiency 0 0 0 0 1 1
Primary autosomal recessive microcephaly 8 1 0 0 0 0 1