ClinVar Miner

Variants from Centre for Medical Genetics, Mumbai

Location: India  Primary collection method: provider interpretation
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
3 55 16 485 3 561

Gene and significance breakdown #

Total genes and gene combinations: 452
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SETD1A 0 0 0 6 0 6
SPTBN1 0 0 0 5 0 5
CHD7 0 0 0 4 0 4
CHD8 0 0 0 4 0 4
KBTBD13 0 0 0 4 0 4
KMT2A 0 0 0 4 0 4
KMT2D 0 0 0 4 0 4
ANKRD17 0 0 0 3 0 3
ARID2 0 0 0 3 0 3
CAMTA1 0 0 0 3 0 3
CHD2 0 0 0 3 0 3
CREBBP 0 0 0 3 0 3
FOXC1 0 0 0 3 0 3
GFAP 0 0 0 3 0 3
GLI2 0 0 0 3 0 3
KMT2C 0 0 0 3 0 3
NR5A1 0 0 0 3 0 3
SEMA6B 0 0 0 3 0 3
SETD5 0 0 0 3 0 3
TRPM3 0 0 0 3 0 3
ACVR1 0 0 0 2 0 2
ADNP 0 0 0 2 0 2
AKT2 0 0 0 1 1 2
AMT 0 1 0 1 0 2
ARID1A 0 0 0 2 0 2
ATP2B3 0 0 0 2 0 2
AUTS2 0 0 0 2 0 2
BMPR2 0 0 0 2 0 2
BRD4 0 0 0 2 0 2
CACNA1I 0 0 0 2 0 2
CAPN3 0 1 0 1 0 2
CDON 0 0 0 2 0 2
CLCN6 0 0 0 2 0 2
CNOT1 0 0 0 2 0 2
CNOT3 0 0 0 2 0 2
COL1A2 0 1 0 1 0 2
CUX1 0 0 0 2 0 2
DYNC1H1 0 0 0 2 0 2
DYNC2H1 0 1 0 1 0 2
EIF2AK1 0 0 0 2 0 2
ERMARD 0 0 0 2 0 2
FAM111B 0 0 0 2 0 2
FBN2 0 0 0 2 0 2
FGFR1 0 0 0 2 0 2
FGFR2 0 0 0 2 0 2
GATAD2B 0 0 0 2 0 2
GLI3 0 0 0 2 0 2
GLUD1 0 0 0 2 0 2
KAT5 0 0 0 2 0 2
KCNT1 0 0 0 2 0 2
KDM3B 0 0 0 2 0 2
KIT 0 0 0 2 0 2
KMT2B 0 0 0 2 0 2
L1CAM 0 0 1 1 0 2
LMNB1 0 0 0 2 0 2
MBD5 0 0 0 2 0 2
MECP2 0 0 0 2 0 2
MED12L 0 0 0 2 0 2
MED13L 0 0 0 2 0 2
MT-ATP6 0 0 0 2 0 2
MTSS2 0 0 0 2 0 2
MYRF 0 0 1 1 0 2
NOTCH2 0 0 0 2 0 2
NSD1 0 0 0 2 0 2
PKD1 0 0 0 2 0 2
PORCN 0 0 0 2 0 2
PRDM6 0 0 0 2 0 2
RTEL1, RTEL1-TNFRSF6B 0 0 2 0 0 2
RYR2 0 1 0 1 0 2
SCN1A 0 0 1 1 0 2
SCN3A 0 0 0 2 0 2
SETBP1 0 0 0 2 0 2
SHH 0 0 0 2 0 2
SRCAP 0 0 0 2 0 2
TMEM63A 0 0 0 2 0 2
TRPV4 0 0 0 2 0 2
WDFY3 0 0 0 2 0 2
ZIC2 0 1 0 1 0 2
ZNF292 0 0 0 2 0 2
ABCA7 0 1 0 0 0 1
ABCC2 0 0 0 1 0 1
ACAD8 0 1 0 0 0 1
ACSL4 0 0 0 1 0 1
ACTG2 0 0 0 1 0 1
ACTN4 0 0 0 1 0 1
ADA2 0 1 0 0 0 1
AGL 0 0 0 1 0 1
AGO2, LOC126860545 0 0 0 1 0 1
ALG9 0 0 0 1 0 1
ALX1 0 0 0 1 0 1
AMOTL1 0 0 0 1 0 1
ANAPC7 0 0 0 1 0 1
ANK1 0 1 0 0 0 1
ANKRD11 0 0 0 1 0 1
ANTXR2 0 1 0 0 0 1
APCDD1 0 0 0 1 0 1
AR 0 0 0 1 0 1
ARCN1 0 0 0 1 0 1
ARFGEF2 0 0 0 1 0 1
ARG1, MED23 0 1 0 0 0 1
ARHGAP31 0 0 0 1 0 1
ARID1B 0 0 0 1 0 1
ARID1B, LOC115308161, LOC129997525 0 0 0 1 0 1
ARL2, ARL2-SNX15 0 0 0 1 0 1
ARX 0 0 0 1 0 1
ARX, LOC109610631 0 0 0 1 0 1
ASH1L 0 0 0 1 0 1
ASH1L, MIR555 0 0 0 1 0 1
ASXL2 0 0 0 1 0 1
ATIC, FN1 0 0 0 1 0 1
ATP11A 0 0 0 1 0 1
ATP11C 0 0 0 1 0 1
ATP1A3 0 0 0 1 0 1
ATP7A 0 0 0 1 0 1
ATRX 0 0 0 1 0 1
BACH2 0 0 0 1 0 1
BAP1 0 0 1 0 0 1
BCL11B 0 0 0 1 0 1
BICD2 0 0 0 1 0 1
BICRA 0 0 0 1 0 1
BLTP1 0 0 0 1 0 1
BORCS8, BORCS8-MEF2B 0 1 0 0 0 1
BPTF 0 0 0 1 0 1
BRAT1 0 0 0 1 0 1
BRSK2 0 0 0 1 0 1
BRWD3 0 0 0 1 0 1
BUD13 0 0 0 1 0 1
CACNA1G 0 0 0 1 0 1
CACNA1H 0 0 0 1 0 1
CACNA1S 0 0 0 1 0 1
CACNG2 0 0 0 1 0 1
CAMK2G 0 0 0 1 0 1
CAMTA1, LOC126805603 0 0 0 1 0 1
CAMTA1, LOC129929266 0 0 0 1 0 1
CARD8 0 0 0 1 0 1
CASD1, SGCE 0 0 0 1 0 1
CATIP, PNKD 0 0 0 1 0 1
CCR2 0 0 0 1 0 1
CD96 0 0 0 1 0 1
CDC42BPB 0 0 0 1 0 1
CDH15 0 0 0 1 0 1
CDKL5 0 0 0 1 0 1
CDKN2A 0 0 1 0 0 1
CDT1 0 0 0 1 0 1
CELSR1 0 0 0 1 0 1
CEP295 0 0 0 1 0 1
CERS1, GDF1 0 0 0 1 0 1
CHD1 0 0 0 1 0 1
CHD4 0 0 0 1 0 1
CIB1 0 0 0 1 0 1
CIC 0 0 0 1 0 1
CNKSR2 0 0 0 1 0 1
COL1A1 1 0 0 0 0 1
COL5A1 0 0 0 1 0 1
COL9A3 0 1 0 0 0 1
COPA 0 0 0 1 0 1
COQ8B 0 0 0 1 0 1
CP 0 1 0 0 0 1
CPLANE1 0 0 0 1 0 1
CRNKL1 0 0 0 1 0 1
CSTB 0 1 0 0 0 1
CSTF2 0 0 0 1 0 1
CTLA4 0 0 1 0 0 1
CTNNB1, LOC126806658 0 0 0 1 0 1
CTNND2 0 0 0 1 0 1
CUX1, LOC126860126 0 0 0 1 0 1
CYFIP2, NIPAL4-DT 0 0 0 1 0 1
DCHS1 0 0 0 1 0 1
DCPS, GSEC 0 0 0 1 0 1
DDB1 0 0 0 1 0 1
DICER1 0 0 0 1 0 1
DIP2B 0 0 0 1 0 1
DLAT 0 0 0 1 0 1
DLL1, LOC126859913 0 0 0 1 0 1
DMD 0 0 0 1 0 1
DOT1L 0 0 0 1 0 1
DPP6 0 0 0 1 0 1
DVL3 0 0 0 1 0 1
DYNC2I2, LOC126860772 0 1 0 0 0 1
DYNC2LI1 0 0 0 1 0 1
DYRK1A 0 0 0 1 0 1
EDARADD 0 1 0 0 0 1
EDNRB 0 0 0 1 0 1
EFTUD2 0 0 0 1 0 1
EHMT1 0 0 0 1 0 1
EIF6 0 0 0 1 0 1
ELAC2 0 0 0 1 0 1
EP300 0 0 0 1 0 1
EPAS1 0 1 0 0 0 1
EPHA7 0 0 0 1 0 1
EPM2A 0 1 0 0 0 1
EPM2A, EPM2A-DT, LOC129997381 0 1 0 0 0 1
ERF 0 0 0 1 0 1
ERVFRD-3, MTAP 0 0 0 1 0 1
EZH2 0 0 0 1 0 1
F5 0 0 0 1 0 1
FA2H 0 1 0 0 0 1
FBXO11 0 0 0 1 0 1
FBXW4 0 0 0 1 0 1
FBXW4, LOC130004564 0 0 0 1 0 1
FBXW7 0 0 0 1 0 1
FKBP10 0 0 0 1 0 1
FLT4 0 0 0 1 0 1
FN1 0 0 0 1 0 1
FOXC2 0 1 0 1 0 1
FOXP3 0 0 0 1 0 1
GABBR1 0 0 0 1 0 1
GABRA3 0 0 0 1 0 1
GALC 0 1 0 0 0 1
GALM 0 0 0 1 0 1
GANAB 0 0 0 1 0 1
GATA2 0 1 0 0 0 1
GDF6 0 0 0 1 0 1
GDI1 0 0 0 1 0 1
GHR 0 0 0 1 0 1
GIGYF1 0 0 0 1 0 1
GJB4 0 0 0 1 0 1
GORAB 0 0 0 1 0 1
GP1BB, SEPT5-GP1BB 0 0 0 1 0 1
GPC3 0 0 0 1 0 1
GPKOW 0 0 0 1 0 1
GRIA3 0 0 0 1 0 1
GRIN2A 0 0 0 1 0 1
GRIN2B 0 0 0 1 0 1
GRM5 0 0 0 1 0 1
GYS2 0 0 0 1 0 1
H2BC12, H4C9 0 0 0 1 0 1
HCCS 0 0 0 1 0 1
HCFC1 0 0 0 1 0 1
HCN1 0 0 0 1 0 1
HDAC6 0 0 0 1 0 1
HEXA 0 1 0 0 0 1
HEXB 0 0 1 0 0 1
HMGCR 0 1 0 0 0 1
HNRNPR 0 0 0 1 0 1
HNRNPU 0 0 0 1 0 1
HRAS, LRRC56 0 0 0 1 0 1
IFNG 0 0 0 1 0 1
IFT140, LOC126862260 0 0 0 1 0 1
IGHMBP2 0 1 0 0 0 1
IMPDH1 0 1 0 0 0 1
INF2 0 0 1 0 0 1
INPPL1 0 1 0 0 0 1
INSR 0 0 0 1 0 1
IRAK1BP1, PHIP 0 0 0 1 0 1
IRF2BP2 0 1 0 0 0 1
JAK3 0 0 0 0 1 1
JAM3 0 0 0 1 0 1
JARID2 0 0 0 1 0 1
KANSL1 0 0 0 1 0 1
KAT8 0 0 0 1 0 1
KCNH1 0 0 0 1 0 1
KCNJ11 0 0 0 1 0 1
KCNN2 0 0 0 1 0 1
KCNQ3 0 0 0 1 0 1
KCNQ5 0 0 0 1 0 1
KCTD17 0 0 0 0 1 1
KDM1A 0 0 0 1 0 1
KDM5C 0 0 0 1 0 1
KDM6A 0 0 0 1 0 1
KIF26A 0 0 0 1 0 1
KIF2A 0 0 0 1 0 1
KIF3B 0 0 0 1 0 1
KLF11 0 0 0 1 0 1
KLHL20 0 0 0 1 0 1
KMT2E 0 0 0 1 0 1
KRT16 0 0 0 1 0 1
KRT5 0 0 0 1 0 1
LAMA2 0 1 0 0 0 1
LAMA4 0 0 0 1 0 1
LAMA5 0 0 0 1 0 1
LOC101928335, MID2 0 0 0 1 0 1
LOC108021846, SOX9 0 0 0 1 0 1
LOC110011216, PHOX2B 0 1 0 0 0 1
LOC126861887, SUPT16H 0 0 0 1 0 1
LOC126862611, TLK2 0 0 0 1 0 1
LOC126863275, MED12 0 0 0 1 0 1
LOC129936652, PTH1R 0 1 0 0 0 1
LOC129995144, THG1L 0 0 0 1 0 1
LOC130063807, NOTCH3 0 0 0 1 0 1
LRP5 0 0 0 1 0 1
LRRC37A2, NSF 0 0 0 1 0 1
LRRC8A 0 0 0 1 0 1
LRRK2 0 0 0 1 0 1
LTBP1 0 0 0 1 0 1
LYZ 0 0 1 0 0 1
MAGEL2 0 0 0 1 0 1
MAN2C1 0 1 0 0 0 1
MANBA 0 0 0 1 0 1
MAPK8IP3 0 0 0 1 0 1
MAST3 0 0 0 1 0 1
MED12L, P2RY12 0 0 0 1 0 1
MED13 0 0 0 1 0 1
MFSD8 0 1 0 0 0 1
MKS1 0 1 0 0 0 1
MOCS1 0 1 0 0 0 1
MORC2 0 0 0 1 0 1
MPL 1 0 0 0 0 1
MVP-DT, PRRT2 0 0 0 1 0 1
MYH3 0 0 0 1 0 1
MYOZ2 0 0 0 1 0 1
MYT1L 0 0 0 1 0 1
NARS2 0 0 0 1 0 1
NBEA 0 0 0 1 0 1
NDUFS1 0 1 0 0 0 1
NFASC 0 0 0 1 0 1
NFIA 0 0 0 1 0 1
NFU1 0 0 0 1 0 1
NIPBL 0 0 0 1 0 1
NLRC4 0 0 0 1 0 1
NLRP3 0 0 0 1 0 1
NOD2 0 0 0 1 0 1
NR4A2 0 0 0 1 0 1
NRROS 0 0 0 1 0 1
NSDHL 0 0 0 1 0 1
NTRK1 0 1 0 0 0 1
OTOGL 0 0 0 1 0 1
OTX2 0 0 0 1 0 1
P4HB 0 0 0 1 0 1
PACS1 0 0 0 1 0 1
PARS2 0 1 0 0 0 1
PAX6 0 0 0 1 0 1
PCDHG@, PCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGB1, PCDHGB2 0 0 0 1 0 1
PDK3 0 0 0 1 0 1
PGK1 0 0 0 1 0 1
PHEX 0 0 0 1 0 1
PHEX, PTCHD1 0 0 0 1 0 1
PIGQ 0 0 0 1 0 1
PIK3R2 0 0 0 1 0 1
PIP5K1C 0 0 0 1 0 1
PITRM1 0 0 0 1 0 1
PKLR 0 1 0 0 0 1
PLCE1 0 0 0 1 0 1
PMS2 0 0 1 0 0 1
POLH 0 0 0 1 0 1
POLR2A 0 0 0 1 0 1
POLRMT 0 0 0 1 0 1
POMT2 0 0 0 1 0 1
POU6F2 0 0 0 1 0 1
PPP1R12A 0 0 0 1 0 1
PPP1R15B 0 0 0 1 0 1
PPP1R21 0 0 0 1 0 1
PPP2R5C 0 0 0 1 0 1
PRKAR1B 0 0 0 1 0 1
PROKR2 0 0 0 1 0 1
PRPF8 0 0 0 1 0 1
PTPN4 0 0 0 1 0 1
PUM1 0 0 0 1 0 1
PYGL 0 0 1 0 0 1
RAI1 0 0 0 1 0 1
RBM10 0 0 0 1 0 1
RERE 0 0 0 1 0 1
RFX3 0 0 0 1 0 1
RFX7 0 0 0 1 0 1
RNF13 0 0 0 1 0 1
RNF216 0 0 0 1 0 1
RPGRIP1 1 0 0 0 0 1
RPL11 0 0 0 1 0 1
RTTN 0 0 0 1 0 1
RUNX1 0 0 1 0 0 1
SACS 0 1 0 0 0 1
SATB1 0 0 0 1 0 1
SCN2A 0 0 0 1 0 1
SCN4A 0 0 0 1 0 1
SCNN1B 0 1 0 0 0 1
SEMA3E 0 0 0 1 0 1
SEPSECS 0 0 1 0 0 1
SERPINC1 0 1 0 0 0 1
SERPINF1 0 0 0 1 0 1
SET 0 0 0 1 0 1
SETD1B 0 0 0 1 0 1
SH3BP2 0 0 0 1 0 1
SHANK2 0 0 0 1 0 1
SIN3A 0 0 0 1 0 1
SIX3 0 0 0 1 0 1
SKI 0 0 0 1 0 1
SLC12A1 0 1 0 0 0 1
SLC19A3 0 1 0 0 0 1
SLC20A2 0 0 0 1 0 1
SLC26A3 0 1 0 0 0 1
SLC2A2 0 1 0 0 0 1
SLC38A8 0 0 0 1 0 1
SLC39A14 0 1 0 0 0 1
SLC4A11 0 0 0 1 0 1
SLC6A6 0 0 0 1 0 1
SLC9A6 0 0 0 1 0 1
SLC9A9 0 0 0 1 0 1
SMARCA2 0 0 0 1 0 1
SMARCA4 0 0 0 1 0 1
SMC1A 0 0 0 1 0 1
SMC5 0 0 0 1 0 1
SMCHD1 0 0 0 1 0 1
SOS2 0 0 0 1 0 1
SOX5 0 0 0 1 0 1
SOX9 0 0 0 1 0 1
SPEN 0 0 0 1 0 1
SPTAN1 0 0 0 1 0 1
SPTB 0 1 0 0 0 1
SPTBN2 0 1 0 0 0 1
SREBF1 0 0 0 1 0 1
SRRM2 0 0 0 1 0 1
STAG1 0 0 0 1 0 1
STAT1 0 0 0 1 0 1
STAT3 0 0 0 1 0 1
STAT6 0 0 0 1 0 1
STIL 0 0 0 1 0 1
SYN1 0 0 0 1 0 1
SYNE2 0 0 0 1 0 1
TAF4 0 0 0 1 0 1
TAOK1 0 0 0 1 0 1
TCEAL1 0 0 0 1 0 1
TCF20 0 0 0 1 0 1
TCN2 0 0 0 1 0 1
TCOF1 0 0 0 1 0 1
TFAP2E 0 0 0 1 0 1
TGM5 0 0 0 1 0 1
THOC2 0 0 0 1 0 1
THRB 0 0 0 1 0 1
TMEM67 0 1 0 0 0 1
TMTC3 0 0 0 1 0 1
TNNT2 0 0 0 1 0 1
TNPO2 0 0 0 1 0 1
TNPO3 0 0 0 1 0 1
TNRC6B 0 0 0 1 0 1
TOR1A 0 0 0 1 0 1
TP63 0 0 0 1 0 1
TRAPPC9 0 0 1 0 0 1
TRIM28 0 0 0 1 0 1
TRIM71 0 0 0 1 0 1
TRPC3 0 0 0 1 0 1
TRPM6 0 0 0 1 0 1
TRPS1 0 0 0 1 0 1
TSC1 0 0 0 1 0 1
TSC2 0 0 0 1 0 1
TUBB3 0 0 0 1 0 1
UBR5 0 0 0 1 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 1 0 0 0 1
USP7 0 0 0 1 0 1
WAC 0 0 0 1 0 1
WDR1 0 0 0 1 0 1
WDR81 0 0 0 1 0 1
WIPF1 0 0 0 1 0 1
WNK4 0 0 0 1 0 1
XPO1 0 0 0 1 0 1
YTHDF3 0 0 0 1 0 1
ZBTB18 0 0 0 1 0 1
ZBTB20 0 0 0 1 0 1
ZCCHC8 0 1 0 0 0 1
ZNF148 0 0 0 1 0 1
ZNF462 0 0 0 1 0 1
ZNF862 0 0 0 1 0 1
ZSWIM6 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 455
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Complex neurodevelopmental disorder 0 0 0 6 0 6
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 0 5 0 5
Developmental delay, impaired speech, and behavioral abnormalities 0 0 0 5 0 5
Intellectual developmental disorder with autism and macrocephaly 0 0 0 4 0 4
Nemaline myopathy 6 0 0 0 4 0 4
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 0 4 0 4
Wiedemann-Steiner syndrome 0 0 0 4 0 4
Alexander disease 0 0 0 3 0 3
Anterior segment dysgenesis 3 0 0 0 3 0 3
Chopra-Amiel-Gordon syndrome 0 0 0 3 0 3
Coffin-Siris syndrome 6 0 0 0 3 0 3
Developmental and epileptic encephalopathy 94 0 0 0 3 0 3
Epilepsy, progressive myoclonic, 11 0 0 0 3 0 3
Global developmental delay with or without impaired intellectual development 0 0 0 3 0 3
Holoprosencephaly 9 0 0 0 3 0 3
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 0 3 0 3
Kabuki syndrome 1 0 0 0 3 0 3
Kleefstra syndrome 2 0 0 0 3 0 3
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 0 0 3 0 3
Nizon-Isidor syndrome 0 0 0 3 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations 0 0 0 3 0 3
46,XX sex reversal 4 0 0 0 2 0 2
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 0 2 0 2
Acrocephalosyndactyly type I 0 0 0 2 0 2
Alagille syndrome due to a NOTCH2 point mutation 0 0 0 2 0 2
Asphyxiating thoracic dystrophy 3 0 1 0 1 0 2
Autism spectrum disorder due to AUTS2 deficiency 0 0 0 2 0 2
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 0 0 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 0 1 0 2
CHD7-related CHARGE syndrome 0 0 0 2 0 2
Camptomelic dysplasia 0 0 0 2 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 0 2 0 2
Coffin-Siris syndrome 1 0 0 0 2 0 2
Congenital contractural arachnodactyly 0 0 0 2 0 2
Cornelia de Lange syndrome 6 0 0 0 2 0 2
Developmental and epileptic encephalopathy, 62 0 0 0 2 0 2
Diets-Jongmans syndrome 0 0 0 2 0 2
Dystonia 28, childhood-onset 0 0 0 2 0 2
Epilepsy, early-onset, with or without developmental delay 0 0 0 2 0 2
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 0 2 0 2
Floating-Harbor syndrome 0 0 0 2 0 2
Focal dermal hypoplasia 0 0 0 2 0 2
Glycine encephalopathy 2 0 1 0 1 0 2
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 0 0 0 2 0 2
Holoprosencephaly 11 0 0 0 2 0 2
Holoprosencephaly 12 with or without pancreatic agenesis 0 0 0 2 0 2
Holoprosencephaly 3 0 0 0 2 0 2
Holoprosencephaly 5 0 1 0 1 0 2
Hyperinsulinism-hyperammonemia syndrome 0 0 0 2 0 2
Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 0 2 0 2
Hypoinsulinemic hypoglycemia and body hemihypertrophy 0 0 0 1 1 2
Intellectual developmental disorder with ocular anomalies and distinctive facial features 0 0 0 2 0 2
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 0 0 2 0 2
Intellectual developmental disorder, autosomal dominant 64 0 0 0 2 0 2
Intellectual disability, autosomal dominant 1 0 0 0 2 0 2
Intellectual disability, autosomal dominant 14 0 0 0 2 0 2
Intellectual disability, autosomal dominant 52 0 0 0 2 0 2
Leigh syndrome, mitochondrial 0 0 0 2 0 2
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 0 2 0 2
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 0 0 0 2 0 2
Microcephaly 18, primary, autosomal dominant 0 0 0 2 0 2
Microcephaly 26, primary, autosomal dominant 0 0 0 2 0 2
Myoclonic epilepsy of Lafora 1 0 2 0 0 0 2
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 0 2 0 2
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 0 0 2 0 2
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 0 2 0 2
Patent ductus arteriosus 3 0 0 0 2 0 2
Periventricular nodular heterotopia 6 0 0 0 2 0 2
Piebaldism 0 0 0 2 0 2
Polycystic kidney disease, adult type 0 0 0 2 0 2
Progressive myositis ossificans 0 0 0 2 0 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 0 2 0 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 0 0 2 0 2
Sotos syndrome 0 0 0 2 0 2
X-linked hydrocephalus syndrome 0 0 1 1 0 2
X-linked progressive cerebellar ataxia 0 0 0 2 0 2
46,XY sex reversal 3 0 0 0 1 0 1
ALG9 congenital disorder of glycosylation 0 0 0 1 0 1
Achalasia-progeroid syndrome 0 0 0 1 0 1
Acral peeling skin syndrome 0 0 0 1 0 1
Acute myeloid leukemia 0 1 0 0 0 1
Adams-Oliver syndrome 1 0 0 0 1 0 1
Agammaglobulinemia 5, autosomal dominant 0 0 0 1 0 1
Al-Raqad syndrome 0 0 0 1 0 1
Alkuraya-Kucinskas syndrome 0 0 0 1 0 1
Alzheimer disease 9 0 1 0 0 0 1
Amyloidosis, hereditary systemic 5 0 0 1 0 0 1
Aniridia 1 0 0 0 1 0 1
Arginase deficiency 0 1 0 0 0 1
Arrhinia with choanal atresia and microphthalmia syndrome 0 0 0 1 0 1
Arthrogryposis multiplex congenita 7, X-linked 0 0 0 1 0 1
Atelis syndrome 2 0 0 0 1 0 1
Autism spectrum disorder 0 0 0 1 0 1
Autism, susceptibility to, 16 0 0 0 1 0 1
Autism, susceptibility to, 17 0 0 0 1 0 1
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 0 0 1 0 0 1
Autoinflammation and autoimmunity with immune dysregulation 1 0 0 0 1 0 1
Autosomal dominant Parkinson disease 8 0 0 0 1 0 1
Autosomal dominant Robinow syndrome 3 0 0 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 0 1 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 0 0 1 0 1
Autosomal recessive distal spinal muscular atrophy 1 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84B 0 0 0 1 0 1
Autosomal recessive spinocerebellar ataxia 14 0 1 0 0 0 1
BAP1-related tumor predisposition syndrome 0 0 1 0 0 1
Bartter disease type 1 0 1 0 0 0 1
Bent bone dysplasia syndrome 2 0 0 0 1 0 1
Bernard Soulier syndrome 0 0 0 1 0 1
Beta-D-mannosidosis 0 0 0 1 0 1
Biotin-responsive basal ganglia disease 0 1 0 0 0 1
Blau syndrome 0 0 0 1 0 1
Blepharophimosis-impaired intellectual development syndrome 0 0 0 1 0 1
Bone marrow failure syndrome 1 0 0 0 0 1
Brain malformations with or without urinary tract defects 0 0 0 1 0 1
C syndrome 0 0 0 1 0 1
CHARGE syndrome 0 0 0 1 0 1
Cardiac-urogenital syndrome 0 0 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 0 1 0 1
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0 1 0 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 0 0 0 1 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 0 0 1 0 1
Cerebellar ataxia-hypogonadism syndrome 0 0 0 1 0 1
Charcot-Marie-Tooth disease X-linked dominant 6 0 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2Z 0 0 0 1 0 1
Charlevoix-Saguenay spastic ataxia 0 1 0 0 0 1
Child syndrome 0 0 0 1 0 1
Chilton-Okur-Chung neurodevelopmental syndrome 0 0 0 1 0 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 0 0 1 0 1
Chondrodysplasia Blomstrand type 0 1 0 0 0 1
Christianson syndrome 0 0 0 1 0 1
Coffin-Siris syndrome 12 0 0 0 1 0 1
Cole-Carpenter syndrome 1 0 0 0 1 0 1
Combined oxidative phosphorylation defect type 17 0 0 0 1 0 1
Combined oxidative phosphorylation defect type 24 0 0 0 1 0 1
Combined oxidative phosphorylation deficiency 55 0 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 1 0 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 3 0 0 0 1 0 1
Congenital disorder of deglycosylation 2 0 1 0 0 0 1
Congenital factor V deficiency 0 0 0 1 0 1
Congenital hereditary endothelial dystrophy of cornea 0 0 0 1 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 0 1 0 1
Congenital myopathy 22A, classic 0 0 0 1 0 1
Congenital ptosis 0 1 0 0 0 1
Congenital secretory diarrhea, chloride type 0 1 0 0 0 1
Cornelia de Lange syndrome 1 0 0 0 1 0 1
Corpus callosum agenesis-abnormal genitalia syndrome 0 0 0 1 0 1
Cortical dysplasia, complex, with other brain malformations 11 0 0 0 1 0 1
Costello syndrome 0 0 0 1 0 1
Craniofaciocardiohepatic syndrome 0 0 0 1 0 1
Craniosynostosis 4 0 0 0 1 0 1
Crigler-Najjar syndrome, type II 0 1 0 0 0 1
Cutis laxa, autosomal recessive, type 2E 0 0 0 1 0 1
Cystic disease of lung 0 0 0 1 0 1
DYRK1A-related intellectual disability syndrome 0 0 0 1 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 0 0 0 1 0 1
Deficiency of adenosine deaminase 2 0 1 0 0 0 1
Deficiency of ferroxidase 0 1 0 0 0 1
Deficiency of isobutyryl-CoA dehydrogenase 0 1 0 0 0 1
Developmental and epileptic encephalopathy 108 0 0 0 1 0 1
Developmental and epileptic encephalopathy 6B 0 0 0 1 0 1
Developmental and epileptic encephalopathy 96 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 11 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 2 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 24 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 27 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 54 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 65 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 73 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 75 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 77 0 0 0 1 0 1
Developmental delay with dysmorphic facies and dental anomalies 0 0 0 1 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 0 1 0 1
Developmental delay with variable intellectual disability and dysmorphic facies 0 0 0 1 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 0 0 1 0 1
Developmental delay, hypotonia, and impaired language 0 0 0 1 0 1
Diamond-Blackfan anemia 7 0 0 0 1 0 1
Diaphyseal medullary stenosis-bone malignancy syndrome 0 0 0 1 0 1
Dilated cardiomyopathy 1D 0 0 0 1 0 1
Dilated cardiomyopathy 1JJ 0 0 0 1 0 1
Distichiasis-lymphedema syndrome 0 0 0 1 0 1
Dubin-Johnson syndrome 0 0 0 1 0 1
Duchenne muscular dystrophy 0 0 0 1 0 1
Early-onset generalized limb-onset dystonia 0 0 0 1 0 1
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 0 1 0 0 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 0 0 1 0 1
Ehlers-Danlos syndrome, cardiac valvular type 0 0 0 1 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 0 1 0 1
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization 0 0 1 0 0 1
Epidermodysplasia verruciformis, susceptibility to, 3 0 0 0 1 0 1
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive 0 0 0 1 0 1
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 0 0 0 1 0 1
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features 0 0 0 1 0 1
Epilepsy, childhood absence, susceptibility to, 6 0 0 0 1 0 1
Erythrocytosis, familial, 4 0 1 0 0 0 1
Erythrokeratodermia variabilis et progressiva 2 0 0 0 1 0 1
Exudative vitreoretinopathy 7 0 0 0 1 0 1
FG syndrome 1 0 0 0 1 0 1
Fanconi-Bickel syndrome 0 1 0 0 0 1
Ferguson-Bonni neurodevelopmental syndrome 0 0 0 1 0 1
Fibromatosis, gingival, 6 0 0 0 1 0 1
Fibromuscular dysplasia, multifocal 0 0 0 1 0 1
Fibrous dysplasia of jaw 0 0 0 1 0 1
Focal segmental glomerulosclerosis 1 0 0 0 1 0 1
Focal segmental glomerulosclerosis 5 0 0 1 0 0 1
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 0 0 1 0 1
Freeman-Sheldon syndrome 0 0 0 1 0 1
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 0 0 0 1 0 1
Galactosemia 4 0 0 0 1 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 0 0 1
Genitourinary and/or brain malformation syndrome 0 0 0 1 0 1
Geroderma osteodysplastica 0 0 0 1 0 1
Gigyf1-related Developmental Disorder 0 0 0 1 0 1
Global developmental delay with speech and behavioral abnormalities 0 0 0 1 0 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 0 0 1 0 1
Glomerulopathy with fibronectin deposits 2 0 0 0 1 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 0 1 0 1
Glycogen storage disease type III 0 0 0 1 0 1
Glycogen storage disease, type VI 0 0 1 0 0 1
Glycogen storage disorder due to hepatic glycogen synthase deficiency 0 0 0 1 0 1
Hao-Fountain syndrome due to USP7 mutation 0 0 0 1 0 1
Hearing loss, autosomal dominant 34, with or without inflammation 0 0 0 1 0 1
Hereditary antithrombin deficiency 0 1 0 0 0 1
Hereditary insensitivity to pain with anhidrosis 0 1 0 0 0 1
Hereditary lymphedema type I 0 0 0 1 0 1
Hereditary spastic paraplegia 35 0 1 0 0 0 1
Hereditary spherocytosis type 1 0 1 0 0 0 1
Hereditary spherocytosis type 2 0 1 0 0 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Acute myeloid leukemia 0 0 1 0 0 1
Holoprosencephaly 2 0 0 0 1 0 1
Holoprosencephaly-hypokinesia-congenital contractures syndrome 0 0 0 1 0 1
Houge-Janssens syndrome 4 0 0 0 1 0 1
Hyaline fibromatosis syndrome 0 1 0 0 0 1
Hydrocephalus, congenital communicating, 1 0 0 0 1 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 0 0 1 0 1
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections 0 0 0 1 0 1
Hyperinsulinemic hypoglycemia, familial, 2 0 0 0 1 0 1
Hypermanganesemia with dystonia 2 0 1 0 0 0 1
Hypertrophic cardiomyopathy 16 0 0 0 1 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 0 0 1 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 0 1 0 1
Hypokalemic periodic paralysis, type 1 0 0 0 1 0 1
Hypotaurinemic retinal degeneration and cardiomyopathy 0 0 0 1 0 1
Hypotrichosis 1 0 0 0 1 0 1
IFAP syndrome 2 0 0 0 1 0 1
Idiopathic basal ganglia calcification 1 0 0 0 1 0 1
Immunodeficiency 31B 0 0 0 1 0 1
Immunodeficiency 60 0 0 0 1 0 1
Immunodeficiency 69 0 0 0 1 0 1
Immunodeficiency, common variable, 14 0 1 0 0 0 1
Inflammatory bowel disease 30 0 0 0 1 0 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 0 0 1 0 1
Intellectual developmental disorder 59 0 0 0 1 0 1
Intellectual developmental disorder 61 0 0 0 1 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 0 1 0 1
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0 0 0 1 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 0 0 1 0 1
Intellectual developmental disorder with seizures and language delay 0 0 0 1 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 0 0 1 0 1
Intellectual developmental disorder, X-linked 113 0 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 72 0 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 73 0 0 0 1 0 1
Intellectual disability 0 0 0 1 0 1
Intellectual disability, FRA12A type 0 0 0 1 0 1
Intellectual disability, X-linked 101 0 0 0 1 0 1
Intellectual disability, X-linked 41 0 0 0 1 0 1
Intellectual disability, X-linked 63 0 0 0 1 0 1
Intellectual disability, X-linked 93 0 0 0 1 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 0 0 1 0 1
Intellectual disability, autosomal dominant 10 0 0 0 1 0 1
Intellectual disability, autosomal dominant 13 0 0 0 1 0 1
Intellectual disability, autosomal dominant 16 0 0 0 1 0 1
Intellectual disability, autosomal dominant 22 0 0 0 1 0 1
Intellectual disability, autosomal dominant 29 0 0 0 1 0 1
Intellectual disability, autosomal dominant 3 0 0 0 1 0 1
Intellectual disability, autosomal dominant 33 0 0 0 1 0 1
Intellectual disability, autosomal dominant 39 0 0 0 1 0 1
Intellectual disability, autosomal dominant 45 0 0 0 1 0 1
Intellectual disability, autosomal dominant 46 0 0 0 1 0 1
Intellectual disability, autosomal dominant 47 0 0 0 1 0 1
Intellectual disability, autosomal dominant 57 0 0 0 1 0 1
Intellectual disability, autosomal dominant 58 0 0 0 1 0 1
Intellectual disability, autosomal dominant 6 0 0 0 1 0 1
Intellectual disability, autosomal recessive 13 0 0 1 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 0 1 0 1
Intestinal hypomagnesemia 1 0 0 0 1 0 1
Joubert syndrome 17 0 0 0 1 0 1
KBG syndrome 0 0 0 1 0 1
Kabuki syndrome 2 0 0 0 1 0 1
Kennedy disease 0 0 0 1 0 1
Kleefstra syndrome 1 0 0 0 1 0 1
Koolen-de Vries syndrome 0 0 0 1 0 1
Lamb-Shaffer syndrome 0 0 0 1 0 1
Landau-Kleffner syndrome 0 0 0 1 0 1
Lateral meningocele syndrome 0 0 0 1 0 1
Lazy leukocyte syndrome 0 0 0 1 0 1
Leber congenital amaurosis 6 1 0 0 0 0 1
Leprechaunism syndrome 0 0 0 1 0 1
Lessel-Kreienkamp syndrome 0 0 0 1 0 1
Lethal congenital contracture syndrome 3 0 0 0 1 0 1
Leukodystrophy, hypomyelinating, 24 0 0 0 1 0 1
Li-Ghorbani-Weisz-Hubshman syndrome 0 0 0 1 0 1
Linear skin defects with multiple congenital anomalies 1 0 0 0 1 0 1
Lissencephaly 8 0 0 0 1 0 1
Lynch syndrome 4 0 0 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 0 0 1 0 1
Marbach-Schaaf neurodevelopmental syndrome 0 0 0 1 0 1
Maturity-onset diabetes of the young type 7 0 0 0 1 0 1
Meckel syndrome, type 1 0 1 0 0 0 1
Meckel syndrome, type 3 0 1 0 0 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0 0 0 1 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 0 0 1 0 1
Meier-Gorlin syndrome 4 0 0 0 1 0 1
Melanoma, cutaneous malignant, susceptibility to, 2 0 0 1 0 0 1
Menkes kinky-hair syndrome 0 0 0 1 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 0 0 1
Methylmalonic acidemia with homocystinuria, type cblX 0 0 0 1 0 1
Microcephalic primordial dwarfism due to RTTN deficiency 0 0 0 1 0 1
Microcephaly 7, primary, autosomal recessive 0 0 0 1 0 1
Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia 0 0 0 1 0 1
Microcephaly, short stature, and impaired glucose metabolism 2 0 0 0 1 0 1
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 0 0 0 1 0 1
Microphthalmia, isolated, with coloboma 6 0 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 5 0 1 0 0 0 1
Multiple congenital anomalies/dysmorphic syndrome 0 0 0 1 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 28 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 0 0 0 1 0 1
Myoclonic dystonia 11 0 0 0 1 0 1
Myoclonic dystonia 26 0 0 0 0 1 1
Nephrotic syndrome, type 3 0 0 0 1 0 1
Nephrotic syndrome, type 9 0 0 0 1 0 1
Neurodevelopmental disorder with central and peripheral motor dysfunction 0 0 0 1 0 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities 0 0 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 0 1 0 1
Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities 0 0 0 1 0 1
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked 0 0 0 1 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 0 0 0 1 0 1
Neurodevelopmental disorder with language delay and variable cognitive abnormalities 0 0 0 1 0 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 0 1 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 0 1 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 0 1 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 0 1 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 0 0 1 0 1
Neurodevelopmental disorder with speech delay and behavioral abnormalities 0 0 0 1 0 1
Neuronal ceroid lipofuscinosis 7 0 1 0 0 0 1
Nil-Deshwar neurodevelopmental syndrome 0 0 0 1 0 1
Noonan syndrome 9 0 0 0 1 0 1
O'Donnell-Luria-Rodan syndrome 0 0 0 1 0 1
Opsismodysplasia 0 1 0 0 0 1
Osteogenesis imperfecta 0 1 0 0 0 1
Osteogenesis imperfecta type 11 0 0 0 1 0 1
Osteogenesis imperfecta type 6 0 0 0 1 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta type III; Osteogenesis imperfecta type I 1 0 0 0 0 1
Osteoporosis with pseudoglioma 0 0 0 1 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 0 0 1 0 1
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 0 0 1 0 1
Pallister-Hall syndrome 0 0 0 1 0 1
Palmoplantar keratoderma, nonepidermolytic, focal 1 0 0 0 1 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 0 0 1 0 1
Periodic fever-infantile enterocolitis-autoinflammatory syndrome 0 0 0 1 0 1
Periventricular heterotopia with microcephaly, autosomal recessive 0 0 0 1 0 1
Pfeiffer syndrome 0 0 0 1 0 1
Pilarowski-Bjornsson syndrome 0 0 0 1 0 1
Pleuropulmonary blastoma 0 0 0 1 0 1
Polycystic kidney disease 3 with or without polycystic liver disease 0 0 0 1 0 1
Polydactyly, postaxial, type A1 0 0 0 1 0 1
Pontocerebellar hypoplasia type 2D 0 0 1 0 0 1
Porencephaly-microcephaly-bilateral congenital cataract syndrome 0 0 0 1 0 1
Primrose syndrome 0 0 0 1 0 1
Progressive myoclonic epilepsy type 8 0 0 0 1 0 1
Pseudohypoaldosteronism type 2B 0 0 0 1 0 1
Pseudohypoaldosteronism, type IB2, autosomal recessive 0 1 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 0 1 0 0 0 1
Pulmonary hypertension, primary, 1 0 0 0 1 0 1
Pulmonary venoocclusive disease 1 0 0 0 1 0 1
Pyruvate dehydrogenase E2 deficiency 0 0 0 1 0 1
Pyruvate kinase deficiency of red cells 0 1 0 0 0 1
RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities 0 0 0 1 0 1
Radio-Tartaglia syndrome 0 0 0 1 0 1
Retinitis pigmentosa 10 0 1 0 0 0 1
Retinitis pigmentosa 13 0 0 0 1 0 1
Retinitis pigmentosa 89 0 0 0 1 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 0 0 1 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 0 0 1 0 1
Saldino-Mainzer syndrome 0 0 0 1 0 1
Sandhoff disease 0 0 1 0 0 1
Schaaf-Yang syndrome 0 0 0 1 0 1
Schinzel-Giedion syndrome 0 0 0 1 0 1
Schuurs-Hoeijmakers syndrome 0 0 0 1 0 1
Seckel syndrome 11 0 0 0 1 0 1
Seizures, benign familial infantile, 2 0 0 0 1 0 1
Seizures, benign familial neonatal, 2 0 0 0 1 0 1
Seizures, early-onset, with neurodegeneration and brain calcifications 0 0 0 1 0 1
Semilobar holoprosencephaly 0 1 0 0 0 1
Severe myoclonic epilepsy in infancy 0 0 1 0 0 1
Severe neonatal-onset encephalopathy with microcephaly 0 0 0 1 0 1
Shashi-Pena syndrome 0 0 0 1 0 1
Short stature due to partial GHR deficiency 0 0 0 1 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 0 0 1 0 1
Short-rib thoracic dysplasia 11 with or without polydactyly 0 1 0 0 0 1
Short-rib thoracic dysplasia 15 with polydactyly 0 0 0 1 0 1
Shprintzen-Goldberg syndrome 0 0 0 1 0 1
Shwachman–Diamond syndrome 0 0 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 0 0 1 0 1
Simpson-Golabi-Behmel syndrome type 1 0 0 0 1 0 1
Smith-Magenis syndrome 0 0 0 1 0 1
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 0 0 0 1 0 1
Spastic paraplegia 93, autosomal recessive 0 0 0 1 0 1
Spinocerebellar ataxia 47 0 0 0 1 0 1
Spinocerebellar ataxia type 41 0 0 0 1 0 1
Spinocerebellar ataxia type 42 0 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 28 0 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 30 0 0 0 1 0 1
Split hand-foot malformation 3 0 0 0 1 0 1
Spondyloepimetaphyseal dysplasia, Maroteaux type 0 0 0 1 0 1
Spondylometaphyseal dysplasia - Sutcliffe type 0 0 0 1 0 1
Spondylometaphyseal dysplasia, Kozlowski type 0 0 0 1 0 1
Stickler syndrome, type 6 0 1 0 0 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 1 0 0 0 1
Syndromic X-linked intellectual disability 94 0 0 0 1 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 0 1 0 1
Syndromic microphthalmia type 5 0 0 0 1 0 1
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 0 0 0 1 1
TARP syndrome 0 0 0 1 0 1
Tay-Sachs disease 0 1 0 0 0 1
Tessadori-Van Haaften neurodevelopmental syndrome 4 0 0 0 1 0 1
Thyroid hormone resistance, generalized, autosomal recessive 0 0 0 1 0 1
Transcobalamin II deficiency 0 0 0 1 0 1
Treacher Collins syndrome 1 0 0 0 1 0 1
Trichorhinophalangeal dysplasia type I 0 0 0 1 0 1
Tuberous sclerosis 1 0 0 0 1 0 1
Tuberous sclerosis 2 0 0 0 1 0 1
Unverricht-Lundborg syndrome 0 1 0 0 0 1
Van Maldergem syndrome 1 0 0 0 1 0 1
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 1 0 0 0 1
Waardenburg syndrome type 4A 0 0 0 1 0 1
Weaver syndrome 0 0 0 1 0 1
Weiss-Kruszka syndrome 0 0 0 1 0 1
White-Kernohan syndrome 0 0 0 1 0 1
Wilms tumor 5 0 0 0 1 0 1
Wilms tumor 7 0 0 0 1 0 1
Wiskott-Aldrich syndrome 2 0 0 0 1 0 1
X-linked congenital hemolytic anemia 0 0 0 1 0 1
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 0 0 0 1 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome 0 0 0 1 0 1
X-linked lissencephaly with abnormal genitalia 0 0 0 1 0 1
Xeroderma pigmentosum variant type 0 0 0 1 0 1
Yellow nail syndrome 0 0 0 1 0 1
Zimmermann-Laband syndrome 1 0 0 0 1 0 1
human split-hand/foot malformation type 3 0 0 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.