ClinVar Miner

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

Location: France  Primary collection method: clinical testing
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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 drug response total
696 698 185 28 6 4 1602

Gene and significance breakdown #

Total genes and gene combinations: 796
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign drug response total
DLG3 2 8 15 5 1 0 31
NALCN 1 28 0 0 0 0 29
TBR1 2 18 0 0 0 0 19
ANKRD11 10 7 0 0 0 0 17
VPS13B 6 8 0 0 0 0 14
PIK3CA 13 0 0 0 0 0 13
MTOR 7 5 0 0 0 0 12
TMEM147 12 0 0 0 0 0 12
ARFGEF1 11 0 0 0 0 0 11
PTBP1 10 0 0 0 0 0 10
STAG1 0 10 0 0 0 0 10
ADGRL1 7 2 0 0 0 0 9
DDX3X 2 7 0 0 0 0 9
MED13L 1 8 0 0 0 0 9
MSL3 1 8 0 0 0 0 9
PTPN11 9 0 0 0 0 0 9
SCN2A 3 6 0 0 0 0 9
SRSF1 8 0 1 0 0 0 9
SYNGAP1 6 1 2 0 0 0 9
BRCA2 5 3 0 0 0 0 8
CELF4 0 0 8 0 0 0 8
CREBBP 2 5 1 0 0 0 8
ITSN1 0 0 8 0 0 0 8
KMT2D 6 2 0 0 0 0 8
MECP2 5 3 0 0 0 0 8
OFD1 3 5 0 0 0 0 8
DYRK1A 3 3 1 0 0 0 7
EHMT1 3 4 0 0 0 0 7
FBN1 3 3 0 1 0 0 7
KMT2A 4 3 0 0 0 0 7
PKD1 7 0 0 0 0 0 7
POGZ 3 4 0 0 0 0 7
RSF1 0 0 7 0 0 0 7
ZBTB20 7 1 0 0 0 0 7
ZNF292 1 2 3 1 0 0 7
ARID1A 2 3 1 0 0 0 6
ARID1B 2 4 0 0 0 0 6
ASXL1 2 4 0 0 0 0 6
DYNC2H1 2 4 0 0 0 0 6
KDM5C 1 5 0 0 0 0 6
MYBPC3 2 0 4 0 0 0 6
NIPBL 4 2 0 0 0 0 6
NR2F1 2 4 0 0 0 0 6
NSD1 3 3 0 0 0 0 6
ACTB 3 2 0 0 0 0 5
AHDC1 3 2 0 0 0 0 5
BRAF 4 1 0 0 0 0 5
BRAT1 5 0 0 0 0 0 5
CELF4, LOC105372068 0 0 5 0 0 0 5
COL1A1 4 1 0 0 0 0 5
DNAH11 3 0 2 0 0 0 5
DYNC1H1 0 5 0 0 0 0 5
KCNB1 2 3 0 0 0 0 5
KCNQ2 5 0 0 0 0 0 5
PKHD1 0 5 0 0 0 0 5
RET 0 1 3 0 1 0 5
SCN5A 2 1 1 0 1 0 5
SETD5 2 3 0 0 0 0 5
TTN 0 2 3 0 0 0 5
USH2A 4 1 0 0 0 0 5
ALMS1 4 0 0 0 0 0 4
CACNA1A 2 2 0 0 0 0 4
CDK13 2 3 0 0 0 0 4
CFTR 4 0 0 0 0 0 4
CHD8 1 3 0 0 0 0 4
COL2A1 3 1 0 0 0 0 4
COL4A1 2 2 0 0 0 0 4
COL4A5 2 2 0 0 0 0 4
COQ8A 0 2 2 0 0 0 4
DEPDC5 2 2 0 0 0 0 4
DSG2 1 1 1 1 0 0 4
FOXG1 3 1 0 0 0 0 4
GATAD2B 1 3 0 0 0 0 4
GRIN2B 0 2 2 0 0 0 4
KAT6B 1 3 0 0 0 0 4
KCNQ1 1 3 0 0 0 0 4
KMT2E 3 0 1 0 0 0 4
LARP7 3 1 0 0 0 0 4
LOC126862603, SRSF1 3 0 1 0 0 0 4
MAN2B1 2 2 0 0 0 0 4
NF1 2 2 0 0 0 0 4
NFIX 0 4 0 0 0 0 4
PAH 3 1 1 0 0 0 4
PURA 2 2 0 0 0 0 4
SH3TC2 0 3 1 0 0 0 4
SLC26A4 3 1 0 0 0 0 4
SLC6A1 1 3 0 0 0 0 4
SOS1 4 0 0 0 0 0 4
SYN1 2 1 0 1 0 0 4
TCF4 1 3 0 0 0 0 4
TGM1 3 1 0 0 0 0 4
TUBB 3 1 0 0 0 0 4
TUBB3 1 3 0 0 0 0 4
ACADM 1 2 0 0 0 0 3
ADNP 2 1 0 0 0 0 3
AFF4 0 3 0 0 0 0 3
ASXL3 1 2 0 0 0 0 3
ATL1 1 2 0 0 0 0 3
ATRX 1 1 0 1 0 0 3
AUTS2 2 1 0 0 0 0 3
BCL11A 1 2 0 0 0 0 3
CDC42BPB 0 0 1 2 0 0 3
CHD3 0 2 1 0 0 0 3
CHD7 3 0 0 0 0 0 3
CLCN1 3 0 0 0 0 0 3
CNGA3 3 0 0 0 0 0 3
CNOT1 0 3 0 0 0 0 3
CSNK2A1 2 1 0 0 0 0 3
CUL3 0 0 3 0 0 0 3
DHCR7 0 3 0 0 0 0 3
DLG4 0 3 0 0 0 0 3
DLL1 1 1 1 0 0 0 3
EBF3 2 1 0 0 0 0 3
EP300 1 2 0 0 0 0 3
FLNB 0 3 0 0 0 0 3
GJB2 2 1 0 0 0 0 3
GNAQ 3 0 0 0 0 0 3
GPC3 2 1 0 0 0 0 3
JARID2 1 1 0 1 0 0 3
KAT6A 1 2 0 0 0 0 3
KCNT1 1 2 0 0 0 0 3
KIF1A 3 0 0 0 0 0 3
KLHL7 0 3 0 0 0 0 3
KMT5B 3 0 0 0 0 0 3
LARP7, MIR302CHG 2 1 0 0 0 0 3
LOC129994826, PURA 1 2 0 0 0 0 3
MT-ATP6 2 1 0 0 0 0 3
MVP-DT, PRRT2 2 2 0 0 0 0 3
NAA10 1 2 0 0 0 0 3
PBX1 1 2 0 0 0 0 3
PGAP3 3 0 0 0 0 0 3
PHF6 2 1 0 0 0 0 3
PHIP 0 3 0 0 0 0 3
PHKA2 1 2 0 0 0 0 3
PKD2 3 0 0 0 0 0 3
PPM1D 1 2 0 0 0 0 3
PTEN 2 1 0 0 0 0 3
PUF60 1 2 0 0 0 0 3
PYCR1 2 1 0 0 0 0 3
RECQL4 1 2 0 0 0 0 3
SATB2 2 1 0 0 0 0 3
SDHB 0 0 2 0 1 0 3
SLC13A5 2 1 0 0 0 0 3
SLC6A8 2 1 0 0 0 0 3
SMARCA2 1 2 0 0 0 0 3
SMPD4 0 3 2 0 0 0 3
SOX5 2 1 0 0 0 0 3
TAOK1 1 2 0 0 0 0 3
TCF20 3 0 0 0 0 0 3
TET3 0 2 0 1 0 0 3
ZEB2 0 3 0 0 0 0 3
ABCA4 1 1 0 0 0 0 2
ABHD12 0 2 0 0 0 0 2
ADGRV1 1 1 0 0 0 0 2
ALG1 2 0 0 0 0 0 2
ALG3 2 0 0 0 0 0 2
AMHR2 2 0 0 0 0 0 2
ANO10 1 1 0 0 0 0 2
AP3B2, CPEB1 0 2 0 0 0 0 2
ARHGEF9 1 0 1 0 0 0 2
ARID2 0 2 0 0 0 0 2
ARSA 1 1 0 0 0 0 2
ASPM 2 0 0 0 0 0 2
ASXL2 2 0 0 0 0 0 2
ATIC 1 0 1 0 0 0 2
ATP1A1 0 1 1 0 0 0 2
AURKC 2 0 0 0 0 0 2
B3GLCT 1 0 1 0 0 0 2
BAZ2B, CD302, DPP4, FAP, FIGN, GCA, GCG, IFIH1, ITGB6, KCNH7, LY75, LY75-CD302, MARCHF7, PLA2R1, PSMD14, RBMS1, SLC4A10, TANC1, TANK, TBR1, WDSUB1 0 2 0 0 0 0 2
BRPF1 2 0 0 0 0 0 2
CAMTA1 1 1 0 0 0 0 2
CASK 1 1 0 0 0 0 2
CD151 1 1 0 0 0 0 2
CDAN1 2 0 0 0 0 0 2
CDK10 2 0 0 0 0 0 2
CDKL5, RS1 1 1 0 0 0 0 2
CEP55 2 0 0 0 0 0 2
CLN3 2 0 0 0 0 0 2
COL1A2 1 1 0 0 0 0 2
COL4A4 1 2 0 0 0 0 2
COL6A3 0 1 1 0 0 0 2
CUL4B 1 1 0 0 0 0 2
CYFIP2 0 2 0 0 0 0 2
CYP2C9 0 0 0 0 0 2 2
CYP4F22 1 1 0 0 0 0 2
DLG4, LOC126862479 0 2 0 0 0 0 2
DPP4, FAP, GCG, IFIH1, PSMD14, SLC4A10, TANK, TBR1 0 2 0 0 0 0 2
DSP 0 0 2 0 0 0 2
DYSF 0 2 0 0 0 0 2
EEF1A2 1 1 0 0 0 0 2
EPHB4 0 2 0 0 0 0 2
ERCC2 1 1 0 0 0 0 2
FBRSL1 0 0 0 2 0 0 2
FGD1 1 0 0 1 0 0 2
FGFR2 2 0 0 0 0 0 2
FGFR3 2 0 0 0 0 0 2
FLCN 1 0 1 0 0 0 2
FLNA 1 1 0 0 0 0 2
FLT4 1 1 0 0 0 0 2
FOXL2 2 0 0 0 0 0 2
GBA1, LOC106627981 1 1 0 0 0 0 2
GNAO1 0 2 0 0 0 0 2
GNB2 2 0 0 0 0 0 2
GNPTAB 2 0 0 0 0 0 2
GREB1L 0 1 1 0 0 0 2
GRIA2 1 0 1 0 0 0 2
GUSB 2 0 0 0 0 0 2
HCN1 0 2 0 0 0 0 2
HNRNPK 0 2 0 0 0 0 2
HNRNPU 2 0 0 0 0 0 2
HPDL 0 2 0 0 0 0 2
HRAS, LRRC56 2 0 0 0 0 0 2
HYAL2 0 2 0 0 0 0 2
INF2 1 1 0 0 0 0 2
IRF6 1 1 0 0 0 0 2
KANSL1 1 1 0 0 0 0 2
KCNQ3 2 0 0 0 0 0 2
KIF11 0 2 0 0 0 0 2
KRAS 2 0 0 0 0 0 2
LCT 0 2 0 0 0 0 2
LHCGR, STON1-GTF2A1L 0 2 0 0 0 0 2
LINS1 0 2 0 0 0 0 2
LMNA 0 0 2 0 0 0 2
LOC110121269, SCN5A 0 1 0 0 1 0 2
LONP1 0 2 0 0 0 0 2
LOXHD1 1 1 0 0 0 0 2
LRP5 1 1 0 0 0 0 2
LSS 2 0 0 0 0 0 2
LZTR1 1 0 1 0 0 0 2
MAPK8IP3 1 0 1 0 0 0 2
MC4R 1 1 0 0 0 0 2
MED13 1 1 0 0 0 0 2
MEF2C 0 2 0 0 0 0 2
MID1 0 2 0 0 0 0 2
MPLKIP 2 0 0 0 0 0 2
MRPS22 0 2 0 0 0 0 2
MT-ND6 2 0 0 0 0 0 2
MTM1 1 1 0 0 0 0 2
MUSK 0 2 0 0 0 0 2
MYLK 0 2 0 0 0 0 2
NEB 0 2 0 0 0 0 2
NEK8 0 2 0 0 0 0 2
NFIA 2 0 0 0 0 0 2
NGLY1 0 2 0 0 0 0 2
NHS 2 0 0 0 0 0 2
NR4A2 0 1 1 0 0 0 2
NUP188 0 2 0 0 0 0 2
NUP205 0 0 2 0 0 0 2
OCRL 2 0 0 0 0 0 2
OTX2 2 0 0 0 0 0 2
PAX2 1 1 0 0 0 0 2
PCDH19 2 0 0 0 0 0 2
PCSK7 0 0 2 0 0 0 2
PDHA1 2 0 0 0 0 0 2
PGAP2 1 1 0 0 0 0 2
PGM1 2 0 0 0 0 0 2
PIGN 1 1 0 0 0 0 2
PIK3R2 2 0 0 0 0 0 2
PKP2 2 0 0 0 0 0 2
PLP1, RAB9B 0 2 0 0 0 0 2
PNPLA6 1 0 1 0 0 0 2
POLG 2 0 0 0 0 0 2
POLR2A 0 1 1 0 0 0 2
POMC 2 0 0 0 0 0 2
PPP2R5D 0 2 0 0 0 0 2
PPT1 1 1 0 0 0 0 2
PSMD14, TANK, TBR1 0 2 0 0 0 0 2
PTBP2 2 0 0 0 0 0 2
QRICH1 0 2 0 0 0 0 2
RAPSN 2 0 0 0 0 0 2
REEP1 1 1 0 0 0 0 2
RHOA 1 1 0 0 0 0 2
RPS6KA3 0 1 0 1 0 0 2
RYR2 0 1 1 0 0 0 2
SACS 2 0 0 0 0 0 2
SATB1 2 0 0 0 0 0 2
SCAF4 0 0 2 0 0 0 2
SCN1A 0 2 0 0 0 0 2
SCYL2 0 2 0 0 0 0 2
SET 1 1 0 0 0 0 2
SETBP1 2 0 0 0 0 0 2
SGCD 0 0 2 0 0 0 2
SKI 1 1 0 0 0 0 2
SLC16A2 1 1 0 0 0 0 2
SLC2A1 0 2 0 0 0 0 2
SMARCC2 0 2 0 0 0 0 2
SMARCE1 1 1 0 0 0 0 2
SMO 0 2 0 0 0 0 2
SNHG14, UBE3A 1 1 0 0 0 0 2
SOX11 1 1 0 0 0 0 2
SOX9 1 1 0 0 0 0 2
SPAST 1 1 0 0 0 0 2
SPECC1L, SPECC1L-ADORA2A 0 2 0 0 0 0 2
SPG11 0 2 0 0 0 0 2
SPG7 1 1 0 0 0 0 2
SPTBN2 0 2 0 0 0 0 2
SUZ12 0 1 1 0 0 0 2
TAF1 0 2 0 0 0 0 2
TBX3 1 1 0 0 0 0 2
THOC6 0 1 1 0 0 0 2
TMC1 2 0 0 0 0 0 2
TNNT2 0 0 2 0 0 0 2
TNRC6B 0 1 1 0 0 0 2
TOMM70 0 0 1 1 0 0 2
TRIT1 0 2 0 0 0 0 2
TSC2 2 0 0 0 0 0 2
TSEN54 2 0 0 0 0 0 2
TUBB2A 0 2 0 0 0 0 2
TYR 1 1 0 0 0 0 2
USP7 1 1 0 0 0 0 2
VWF 1 1 0 0 0 0 2
WASHC4 0 2 0 0 0 0 2
WDFY3 0 2 0 0 0 0 2
WDR26 2 0 0 0 0 0 2
WWOX 2 0 0 0 0 0 2
ZBTB18 0 2 0 0 0 0 2
ZDHHC9 0 2 0 0 0 0 2
​intergenic 0 1 0 0 0 0 1
A2M, A2ML1, ABCC9, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, ALG10, AMN1, ANO2, APOBEC1, APOLD1, ARHGDIB, ART4, ATF7IP, ATN1, B4GALNT3, BCAT1, BCL2L14, BHLHE41, BICD1, BMAL2, BORCS5, C12orf57, C12orf60, C12orf71, C1R, C1RL, C1S, C2CD5, C3AR1, CACNA1C, CACNA2D4, CAPRIN2, CAPZA3, CCDC77, CCDC91, CCND2, CD163, CD163L1, CD27, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, CMAS, COPS7A, CRACR2A, CREBL2, DCP1B, DDX11, DDX47, DENND5B, DERA, DNAI7, DNM1L, DPPA3, DUSP16, DYRK4, EMG1, EMP1, ENO2, EPS8, ERC1, ERGIC2, ERP27, ETFBKMT, ETFRF1, ETNK1, ETV6, FAM234B, FAM90A1, FAR2, FBXL14, FERRY3, FGD4, FGF23, FGF6, FGFR1OP2, FKBP4, FOXJ2, FOXM1, GABARAPL1, GALNT8, GAPDH, GDF3, GNB3, GOLT1B, GPR162, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, GUCY2C, GYS2, H2AJ, H3-5, H4C16, HEBP1, IAPP, IFFO1, ING4, INTS13, IPO8, IQSEC3, IRAG2, ITFG2, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KDM5A, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KRAS, LAG3, LDHB, LINC02909, LMNTD1, LMO3, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MED21, MFAP5, MGP, MGST1, MIR141, MIR200C, MLF2, MRPL51, MRPS35, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, OLR1, OVCH1, P3H3, PARP11, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PKP2, PLBD1, PLCZ1, PLEKHA5, PLEKHG6, PPFIBP1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH2, PRMT8, PRR4, PTHLH, PTMS, PTPN6, PTPRO, PYROXD1, PZP, RAD51AP1, RAD52, RASSF8, RBP5, RECQL, REP15, RERG, RERGL, RESF1, RHNO1, RIMKLB, SCNN1A, SINHCAF, SLC15A5, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SOX5, SPSB2, SPX, SSPN, ST8SIA1, STK38L, STRAP, STYK1, SYT10, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TIGAR, TM7SF3, TMEM52B, TMTC1, TNFRSF1A, TPI1, TSPAN11, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNK1, WNT5B, YARS2, YBX3, ZNF384, ZNF705A 1 0 0 0 0 0 1
AARS1 1 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 0 1 0 0 0 0 1
ABCA12, SNHG31 1 0 0 0 0 0 1
ABCC9 0 1 0 0 0 0 1
ABCC9, KCNJ8 0 1 0 0 0 0 1
ACE 0 1 0 0 0 0 1
ACP5 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PPIAL4D, PRKAB2, TRN-GTT2-7 1 0 0 0 0 0 1
ACTG2 0 1 0 0 0 0 1
ACTL6B 1 0 0 0 0 0 1
ADGRV1, ARRDC3, CETN3, LUCAT1, LYSMD3, MBLAC2, MEF2C, POLR3G 1 0 0 0 0 0 1
AFF2 0 0 1 0 0 0 1
AFG2A 1 0 0 0 0 0 1
AFG3L2 0 1 0 0 0 0 1
AIFM1, RAB33A 1 0 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 0 1
AIMP1 1 0 0 0 0 0 1
AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ATG4C, C1orf141, C1orf87, CACHD1, CTH, CYP2J2, DEPDC1, DIRAS3, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FGGY, FOXD3, GADD45A, GNG12, 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, TM2D1, UBE2U, USP1, WLS, ZRANB2, ZRANB2-DT 1 0 0 0 0 0 1
AKT3 1 0 0 0 0 0 1
ALDH18A1 0 1 0 0 0 0 1
ALDH7A1 1 0 0 0 0 0 1
ALPL 1 0 0 0 0 0 1
ALS2 0 1 0 0 0 0 1
ALX3 0 1 0 0 0 0 1
ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, CCDC137, CCDC57, CD7, CENPX, CSNK1D, CYBC1, DCXR, DUS1L, FASN, FN3K, FN3KRP, FOXK2, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LRRC45, MAFG, MCRIP1, METRNL, MRPL12, MYADML2, NARF, NOTUM, NPB, NPLOC4, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, SLC25A10, TBCD, TEX19, TSPAN10, UTS2R, WDR45B, ZNF750 1 0 0 0 0 0 1
AMER1 1 0 0 0 0 0 1
AMFR 0 0 1 0 0 0 1
ANK1, LOC124153154 1 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 0 0 1
ANO7, HDLBP 0 0 1 0 0 0 1
AP4S1 1 0 0 0 0 0 1
APC 0 0 1 0 0 0 1
APOB 0 0 1 0 0 0 1
AR 1 0 0 0 0 0 1
ARCN1 1 0 0 0 0 0 1
ARHGAP18, LAMA2, TMEM244 1 0 0 0 0 0 1
ARHGAP6, FRMPD4, MSL3 0 1 0 0 0 0 1
ARHGAP6, MSL3 0 1 0 0 0 0 1
ARHGEF26 0 0 1 0 0 0 1
ARID5B 0 0 1 0 0 0 1
ARX 1 1 0 0 0 0 1
ASCC1 0 1 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 1
ATP1A2 1 0 0 0 0 0 1
ATP1A3 1 0 0 0 0 0 1
ATP6V0C 0 1 0 0 0 0 1
ATP6V1A 0 1 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 0 1
ATXN2L 0 0 1 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 1
BAZ2B 0 0 1 0 0 0 1
BCL11B 0 1 0 0 0 0 1
BCL2L2-PABPN1, PABPN1 1 0 0 0 0 0 1
BCOR 0 1 0 0 0 0 1
BEGAIN 0 0 1 0 0 0 1
BICRA 0 1 0 0 0 0 1
BRCA1 1 0 0 0 0 0 1
BRCA1, LOC126862571 1 0 0 0 0 0 1
BRD2 0 0 1 0 0 0 1
BRD4 0 1 0 0 0 0 1
BRWD3 0 1 0 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 0 0 1
CACNA1E 1 0 0 0 0 0 1
CACNA1G 0 1 0 0 0 0 1
CACNA1S 0 0 1 0 0 0 1
CAMK2A 0 1 0 0 0 0 1
CAMTA1, LOC126805603 0 1 0 0 0 0 1
CASR 0 1 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 1
CCDST, FLG 0 1 0 0 0 0 1
CCND2 0 1 0 0 0 0 1
CCNH, RASA1 1 0 0 0 0 0 1
CDC42 0 1 0 0 0 0 1
CDH5 0 0 1 0 0 0 1
CDK8 1 0 0 0 0 0 1
CDKL5 0 1 0 0 0 0 1
CELF2 0 1 0 0 0 0 1
CELF4, KIAA1328, LOC110120900, LOC125371409, LOC130062395 0 0 1 0 0 0 1
CERS1, GDF1, UPF1 1 0 0 0 0 0 1
CERS2 0 0 1 0 0 0 1
CFAP43 0 1 0 0 0 0 1
CFTR, LOC111674472 1 0 0 0 0 0 1
CFTR, LOC111674475 1 0 0 0 0 0 1
CHAMP1 0 1 0 0 0 0 1
CHD2 1 0 0 0 0 0 1
CHRM3 0 1 0 0 0 0 1
CIC 0 1 0 0 0 0 1
CIT 0 0 1 0 0 0 1
CLCN4 0 0 1 0 0 0 1
CLDN11 0 0 1 0 0 0 1
CLDN9 1 1 0 0 0 0 1
CLPB 0 0 1 0 0 0 1
CLPB, LOC126861258 1 0 0 0 0 0 1
CNP 0 0 1 0 0 0 1
COG7 1 0 0 0 0 0 1
COL11A1 0 1 0 0 0 0 1
COL12A1 0 1 0 0 0 0 1
COL3A1 1 0 0 0 0 0 1
COL4A3, MFF-DT 0 1 0 0 0 0 1
COL5A1 0 0 1 0 0 0 1
COL6A1 1 0 0 0 0 0 1
CRAT 0 1 0 0 0 0 1
CREBBP, TRAP1 0 1 0 0 0 0 1
CRYAA 1 0 0 0 0 0 1
CSNK2B 1 0 0 0 0 0 1
CSPP1 0 1 0 0 0 0 1
CTNNB1 0 1 0 0 0 0 1
CTXN2, DUT, FBN1, MYEF2, SEMA6D, SLC12A1, SLC24A5 1 0 0 0 0 0 1
CUEDC1, DYNLL2, DYNLL2-DT, EPX, HSF5, LPO, MKS1, MPO, MRPS23, OR4D1, OR4D2, RNF43, SRSF1, SUPT4H1, TSPOAP1, VEZF1 1 0 0 0 0 0 1
CUEDC1, DYNLL2, DYNLL2-DT, EPX, MKS1, MRPS23, MSI2, OR4D1, OR4D2, SRSF1, VEZF1 1 0 0 0 0 0 1
CUX1 0 0 1 0 0 0 1
CYFIP1, GOLGA6L2, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, PWRN1, PWRN2, SNRPN, SNURF, TUBGCP5 0 1 0 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 0 1
DAGLA 1 0 0 0 0 0 1
DCPS, TIRAP 0 1 0 0 0 0 1
DEAF1 0 1 0 0 0 0 1
DES 0 0 1 0 0 0 1
DKK3 0 0 1 0 0 0 1
DLL3, LOC130064417 0 1 0 0 0 0 1
DLL3, LOC130064417, PLEKHG2 1 0 0 0 0 0 1
DNAH11, LOC126859961 1 0 0 0 0 0 1
DNAH5 1 0 0 0 0 0 1
DNAJB11 1 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 1
DNM1, LOC113839516 0 1 0 0 0 0 1
DNM1L 0 1 0 0 0 0 1
DNMT3A 0 1 0 0 0 0 1
DOCK6 1 0 0 0 0 0 1
DPH1 0 1 0 0 0 0 1
DSCAML1 0 0 1 0 0 0 1
DSE, LOC129997035, TSPYL1 0 1 0 0 0 0 1
DSE, TSPYL1 0 1 0 0 0 0 1
DYM 1 0 0 0 0 0 1
EDA 1 0 0 0 0 0 1
EFEMP2 1 0 0 0 0 0 1
EFNB1 0 1 0 0 0 0 1
EFTUD2 1 0 0 0 0 0 1
EIF2S3 0 1 0 0 0 0 1
EIF3F 1 0 0 0 0 0 1
EIPR1 0 0 1 0 0 0 1
ELOVL4 1 0 0 0 0 0 1
EMILIN3 0 0 1 0 0 0 1
ENG 0 0 1 0 0 0 1
EOGT 0 0 1 0 0 0 1
EOLA1, HSFX2, IDS, MAGEA11, MAGEA9B, TMEM185A 0 0 0 1 0 0 1
EVC2 1 0 0 0 0 0 1
EXOSC9 1 0 0 0 0 0 1
EYA1 1 0 0 0 0 0 1
EZH2 1 0 0 0 0 0 1
F11 1 0 0 0 0 0 1
FAM111A, LOC130005740 1 0 0 0 0 0 1
FANCA 1 0 0 0 0 0 1
FANCA, LOC132090450 0 1 0 0 0 0 1
FBN2 0 1 0 0 0 0 1
FBXO11 0 1 0 0 0 0 1
FBXO11, MSH6 0 1 0 0 0 0 1
FERMT1 1 0 0 0 0 0 1
FGF8 0 1 0 0 0 0 1
FGFR1 1 0 0 0 0 0 1
FHOD3 1 0 0 0 0 0 1
FIBP 0 1 0 0 0 0 1
FKBP14 1 0 0 0 0 0 1
FKBP8, LOC112543469 0 0 1 0 0 0 1
FKRP 0 1 0 0 0 0 1
FOXC1 0 1 0 0 0 0 1
FOXF1 1 0 0 0 0 0 1
FOXP1 1 0 0 0 0 0 1
FOXP3 0 1 0 0 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 0 1 0 0 0 0 1
FUT8 0 1 0 0 0 0 1
GAA 1 0 0 0 0 0 1
GABRA1 0 1 1 0 0 0 1
GABRB3 0 1 0 0 0 0 1
GBA1 1 0 0 0 0 0 1
GCH1 1 0 0 0 0 0 1
GDF6 0 0 1 0 0 0 1
GFER 0 1 0 0 0 0 1
GFER, LOC130058203 0 1 0 0 0 0 1
GLDN 0 1 0 0 0 0 1
GLI2 0 0 1 0 0 0 1
GLMN 0 1 0 0 0 0 1
GLS 0 1 0 0 0 0 1
GLT8D2 0 0 1 0 0 0 1
GLUL 0 1 0 0 0 0 1
GNA11 1 0 0 0 0 0 1
GNAI1 0 1 0 0 0 0 1
GPD1L 0 0 0 1 0 0 1
GPHN, PALS1 0 0 0 1 0 0 1
GPR143 1 0 0 0 0 0 1
GRHL3 0 1 0 0 0 0 1
GRIN1 1 0 0 0 0 0 1
GRIN2A 0 1 0 0 0 0 1
GRM6 0 1 0 0 0 0 1
H1-4 1 0 0 0 0 0 1
H3-3A 1 0 0 0 0 0 1
HBA-LCR, NPRL3 1 0 0 0 0 0 1
HDAC8 1 0 0 0 0 0 1
HECW2 0 1 0 0 0 0 1
HES7 0 1 0 0 0 0 1
HEXA 1 0 0 0 0 0 1
HFE 1 0 0 0 0 0 1
HIVEP2 1 0 0 0 0 0 1
HMBS 0 1 0 0 0 0 1
HPS3 0 1 0 0 0 0 1
HSD17B10 0 1 0 0 0 0 1
HSPB1 1 0 0 0 0 0 1
HUWE1 1 0 0 0 0 0 1
IDS, LOC106050102 0 0 0 1 0 0 1
IDUA 1 0 0 0 0 0 1
IDUA, SLC26A1 1 0 0 0 0 0 1
IFT122 0 1 0 0 0 0 1
IGF1R 0 1 0 0 0 0 1
IGF1R, LOC126862245 0 1 0 0 0 0 1
IL1RAPL1 1 0 0 0 0 0 1
IQSEC2 1 0 0 0 0 0 1
IRAK1BP1, PHIP 1 0 0 0 0 0 1
IRF2BPL 0 1 0 0 0 0 1
ITPA 1 0 0 0 0 0 1
ITPR1 0 1 0 0 0 0 1
JAG1 1 0 0 0 0 0 1
JAM3 1 0 0 0 0 0 1
JMJD1C 0 0 1 0 0 0 1
KAT7 0 0 1 0 0 0 1
KCNA2 1 0 0 0 0 0 1
KCND3 0 1 0 0 0 0 1
KCNE2, LOC105372791 0 0 1 0 0 0 1
KCNH1 1 0 0 0 0 0 1
KCNJ2 1 0 0 0 0 0 1
KCNN2 0 1 0 0 0 0 1
KCNQ5, KCNQ5-DT 0 1 0 0 0 0 1
KDM6A 0 1 0 0 0 0 1
KIAA0586 1 0 0 0 0 0 1
KIAA0825 1 0 0 0 0 0 1
KIAA0825, LOC126807453 0 1 0 0 0 0 1
KIF5A 1 0 0 0 0 0 1
KLF7 0 1 0 0 0 0 1
KRIT1 1 0 0 0 0 0 1
L1CAM 1 0 0 0 0 0 1
LAMA2 1 0 0 0 0 0 1
LEPR 1 0 0 0 0 0 1
LFNG 0 1 0 0 0 0 1
LHFPL5 0 1 0 0 0 0 1
LMBRD2 0 1 0 0 0 0 1
LMNB1 0 0 0 1 0 0 1
LMX1B 0 1 0 0 0 0 1
LOC101927055, TTN 0 0 1 0 0 0 1
LOC112694753, LOC130066869, LSS 1 0 0 0 0 0 1
LOC114827850, MYL2 0 0 1 0 0 0 1
LOC121740638, TFAP2A 0 1 0 0 0 0 1
LOC126806462, SATB2 1 0 0 0 0 0 1
LOC126806798, ZNF148 0 1 0 0 0 0 1
LOC126806878, TBL1XR1 0 1 0 0 0 0 1
LOC126807322, TRIO 0 1 0 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 0 1
LOC126860549, PUF60 0 0 1 0 0 0 1
LOC126861898, MYH7 0 1 0 0 0 0 1
LOC129930245, PPT1 1 0 0 0 0 0 1
LOC129930668, PGM1 1 0 0 0 0 0 1
LOC129934069, SPR 0 1 0 0 0 0 1
LOC129935026, TBR1 0 1 0 0 0 0 1
LOC130006765, PTS 1 0 0 0 0 0 1
LOC130009363, LOC130009364, SGCG 1 0 0 0 0 0 1
LOC130057352, SMAD3 1 0 0 0 0 0 1
LOC130065345, PANK2 1 0 0 0 0 0 1
LRIG2 0 1 0 0 0 0 1
LTBP3 0 0 1 0 0 0 1
MAB21L1, NBEA 0 1 0 0 0 0 1
MAGED2 1 0 0 0 0 0 1
MAP2K1 0 1 0 0 0 0 1
MCCC2 1 0 0 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 0 0 1
MED12 0 1 0 0 0 0 1
MED23 0 1 0 0 0 0 1
MILR1, POLG2 1 0 0 0 0 0 1
MITF 0 1 0 0 0 0 1
MLH3 0 0 1 0 0 0 1
MN1 1 0 0 0 0 0 1
MRE11 1 0 0 0 0 0 1
MSH6 1 0 0 0 0 0 1
MSRB3 0 1 0 0 0 0 1
MT-ND1, MT-RNR1 0 0 0 0 0 1 1
MT-ND3 0 1 0 0 0 0 1
MT-ND4 1 0 0 0 0 0 1
MT-RNR1, MT-TS1 0 0 0 0 0 1 1
MTREX 0 0 1 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 1
MYH7 0 1 0 0 0 0 1
MYL2 0 1 0 0 0 0 1
MYL3 0 0 1 0 0 0 1
MYO15A 0 1 0 0 0 0 1
MYO6 1 0 0 0 0 0 1
MYRF 0 1 0 0 0 0 1
MYT1L 0 1 0 0 0 0 1
NAA15 0 1 0 0 0 0 1
NBEA 0 1 0 0 0 0 1
NCSTN 0 1 0 0 0 0 1
NDST1 1 0 0 0 0 0 1
NEFL 1 0 0 0 0 0 1
NEU3 0 0 1 0 0 0 1
NEXMIF 1 0 0 0 0 0 1
NF2 0 0 1 0 0 0 1
NFASC 0 0 1 0 0 0 1
NFIB 0 1 0 0 0 0 1
NIPAL4 0 1 0 0 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 0 1
NLGN3 0 0 1 0 0 0 1
NOG 0 1 0 0 0 0 1
NOTCH1 0 1 0 0 0 0 1
NOTCH3 1 0 0 0 0 0 1
NPHS1 1 0 0 0 0 0 1
NPRL2 0 1 0 0 0 0 1
NR5A1 0 1 0 0 0 0 1
NRAS 1 0 0 0 0 0 1
NSD2 1 0 0 0 0 0 1
NTMT2 0 0 1 0 0 0 1
OFD1, TRAPPC2 0 1 0 0 0 0 1
OPA1 1 0 0 0 0 0 1
OTC 1 0 0 0 0 0 1
OTOA 1 0 0 0 0 0 1
OTUD6B 0 1 0 0 0 0 1
OTUD7A 1 0 0 0 0 0 1
PACS1 1 0 0 0 0 0 1
PACS2 1 1 0 0 0 0 1
PAEP 1 0 0 0 0 0 1
PAFAH1B1 0 1 0 0 0 0 1
PAK3 0 1 0 0 0 0 1
PALB2 1 0 0 0 0 0 1
PAX3 0 1 0 0 0 0 1
PAX6 0 1 0 0 0 0 1
PAX9 0 1 0 0 0 0 1
PCGF2 1 0 0 0 0 0 1
PCSK9 0 0 1 0 0 0 1
PDCD10 1 0 0 0 0 0 1
PDZD9, UQCRC2 1 0 0 0 0 0 1
PHF8 0 1 0 0 0 0 1
PICALM 0 0 1 0 0 0 1
PIEZO2 1 0 0 0 0 0 1
PIGA 0 1 0 0 0 0 1
PIGQ 0 1 0 0 0 0 1
PKD1L1 1 0 0 0 0 0 1
PKD1L2 0 0 1 0 0 0 1
PLAG1 0 1 0 0 0 0 1
PLCB4 0 1 0 0 0 0 1
PMS2 0 1 0 0 0 0 1
PNPLA8 0 1 0 0 0 0 1
PNPO 1 0 0 0 0 0 1
POC1A 0 1 0 0 0 0 1
POLA1 0 0 1 0 0 0 1
POMGNT2 1 0 0 0 0 0 1
POMT1 1 0 0 0 0 0 1
PPP1CB 1 0 0 0 0 0 1
PPP2R1A 0 1 0 0 0 0 1
PPP2R5C 0 1 0 0 0 0 1
PQBP1 1 0 0 0 0 0 1
PRMT7 0 1 0 0 0 0 1
PROC 1 0 0 0 0 0 1
PROS1 0 0 1 0 0 0 1
PRPF3 0 1 0 0 0 0 1
PRPF31 0 1 0 0 0 0 1
PRRX1 0 1 0 0 0 0 1
PRUNE1 1 0 0 0 0 0 1
PSEN1 1 0 0 0 0 0 1
PTS 1 0 0 0 0 0 1
PYGL 1 0 0 0 0 0 1
RAC3 0 1 0 0 0 0 1
RAD21 1 0 0 0 0 0 1
RAG1 0 1 0 0 0 0 1
RALA 0 1 0 0 0 0 1
RALGAPB 0 0 1 0 0 0 1
RANBP10 0 0 1 0 0 0 1
RARB 0 1 0 0 0 0 1
RBM20 1 0 0 0 0 0 1
RERE 0 1 0 0 0 0 1
RHO 0 1 0 0 0 0 1
RIT1 1 0 0 0 0 0 1
RLIM 1 0 0 0 0 0 1
RNASEH2B 1 0 0 0 0 0 1
RNF213 0 1 0 0 0 0 1
RNU4-1, RNU4-2, SIRT4 1 0 0 0 0 0 1
RPGR 1 0 0 0 0 0 1
RSPH1 1 0 0 0 0 0 1
RUBCN 0 1 0 0 0 0 1
RYR1 1 0 0 0 0 0 1
SACK1H 0 0 1 0 0 0 1
SAMD9 0 1 0 0 0 0 1
SARS1 0 1 0 0 0 0 1
SCARF2 0 1 0 0 0 0 1
SCN3B 0 1 0 0 0 0 1
SCN8A 0 1 0 0 0 0 1
SEC63 1 0 0 0 0 0 1
SENP6 0 0 0 1 0 0 1
SETD1A 0 0 1 0 0 0 1
SETD2 1 0 0 0 0 0 1
SGCG 1 0 0 0 0 0 1
SHANK3 1 0 0 0 0 0 1
SHH 0 1 0 0 0 0 1
SHOC2 1 0 0 0 0 0 1
SIDT1 0 0 1 0 0 0 1
SIN3A 0 1 0 0 0 0 1
SLC12A2 0 0 0 1 0 0 1
SLC16A1 0 1 0 0 0 0 1
SLC26A2 1 0 0 0 0 0 1
SLC2A10 1 0 0 0 0 0 1
SLC35D1 0 1 0 0 0 0 1
SLC5A7 0 1 0 0 0 0 1
SMAD4 1 0 0 0 0 0 1
SMARCA4 0 1 0 0 0 0 1
SMARCB1 0 1 0 0 0 0 1
SMC3 0 1 0 0 0 0 1
SNAP25 0 1 0 0 0 0 1
SNAPC4 0 1 0 0 0 0 1
SNTA1 0 0 0 1 0 0 1
SON 1 0 0 0 0 0 1
SORD 0 1 0 0 0 0 1
SOX4 0 0 1 0 0 0 1
SPAG9 0 0 1 0 0 0 1
SPEN 0 1 0 0 0 0 1
SPTAN1 1 0 0 0 0 0 1
SPTLC1 0 1 0 0 0 0 1
SRCAP 1 0 0 0 0 0 1
SSR4 0 1 0 0 0 0 1
ST3GAL5 0 1 0 0 0 0 1
STK11 0 0 1 0 0 0 1
STRC 1 0 0 0 0 0 1
STX1B 1 0 0 0 0 0 1
STXBP1 0 1 0 0 0 0 1
SUCLA2 1 0 0 0 0 0 1
SYT1 0 0 1 0 0 0 1
TAF2 0 1 0 0 0 0 1
TAOK2 0 0 1 0 0 0 1
TAPBPL 0 0 1 0 0 0 1
TBC1D2B 0 1 0 0 0 0 1
TBCEL-TECTA, TECTA 0 1 0 0 0 0 1
TBL1XR1 0 1 0 0 0 0 1
TBX4 0 1 0 0 0 0 1
TCF12 1 0 0 0 0 0 1
TCF7L2 0 1 0 0 0 0 1
TFE3 0 1 0 0 0 0 1
TGDS 1 0 0 0 0 0 1
THRB 1 0 0 0 0 0 1
TLK2 0 1 0 0 0 0 1
TMCO1 1 0 0 0 0 0 1
TNPO2 0 1 0 0 0 0 1
TOR1A 0 1 0 0 0 0 1
TP53 1 0 0 0 0 0 1
TPCN2 0 0 1 0 0 0 1
TRAPPC9 0 1 0 0 0 0 1
TRIM37 0 1 0 0 0 0 1
TRIP12 0 1 0 0 0 0 1
TRMU 1 0 0 0 0 0 1
TRPM1 1 0 0 0 0 0 1
TRRAP 1 0 0 0 0 0 1
TSC1 0 0 0 0 1 0 1
TSPAN7 0 0 0 1 0 0 1
TTC21B 1 0 0 0 0 0 1
TTC5 0 1 0 0 0 0 1
TTPA 1 0 0 0 0 0 1
TUBA1A 0 1 0 0 0 0 1
TWIST1 1 0 0 0 0 0 1
UBAP1 1 0 0 0 0 0 1
UBE3B 0 1 0 0 0 0 1
USB1 0 1 0 0 0 0 1
USP9X 1 0 0 0 0 0 1
VCP 1 0 0 0 0 0 1
VPS13A 0 1 0 0 0 0 1
WASHC5 0 1 0 0 0 0 1
WBP11 0 1 0 0 0 0 1
WDR37 1 0 0 0 0 0 1
WDR45 0 1 0 0 0 0 1
WFS1 1 0 0 0 0 0 1
WSCD2 0 0 1 0 0 0 1
YY1AP1 1 0 0 0 0 0 1
ZBTB46 0 0 1 0 0 0 1
ZMYM2 1 0 0 0 0 0 1
ZNF148 0 1 0 0 0 0 1
ZSWIM6 1 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 771
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Marfanoid habitus and intellectual disability 0 33 44 0 0 0 77
Intellectual disability 15 28 0 0 0 0 43
Intellectual disability, X-linked 90 2 8 15 5 1 0 31
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 28 0 0 0 0 28
See cases 3 8 7 6 0 0 21
Global developmental delay 10 6 0 0 0 0 16
KBG syndrome 10 6 0 0 0 0 16
Intellectual disability; Neurodevelopmental delay 13 0 2 0 0 0 15
Cohen syndrome 6 8 0 0 0 0 14
Neurodevelopmental disorder 0 0 14 0 0 0 14
CEBALID syndrome 7 5 0 0 0 0 12
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 11 0 0 0 0 0 11
Autistic behavior 1 1 8 0 0 0 10
Autistic behavior; Moderate global developmental delay 0 10 0 0 0 0 10
PTBP1-related neurodevelopmental disorder with skeletal dysplasia 10 0 0 0 0 0 10
STAG1-related disorder 0 10 0 0 0 0 10
Global developmental delay; Atypical behavior; Delayed speech and language development; Intellectual disability 9 0 0 0 0 0 9
Autistic behavior; Severe global developmental delay 0 8 0 0 0 0 8
CLOVES syndrome 8 0 0 0 0 0 8
Marfan syndrome 4 3 0 1 0 0 8
Orofaciodigital syndrome I 3 5 0 0 0 0 8
Seizure 5 3 0 0 0 0 8
Breast-ovarian cancer, familial, susceptibility to, 2 5 2 0 0 0 0 7
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 6 0 0 0 0 7
Intellectual developmental disorder, autosomal dominant 64 1 2 3 1 0 0 7
Intellectual disability, X-linked 102 1 6 0 0 0 0 7
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 3 4 0 0 0 0 7
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 3 4 0 0 0 0 7
Primrose syndrome 7 0 0 0 0 0 7
RSF1-related neurodevelopmental disorder 0 0 7 0 0 0 7
Rett syndrome 5 2 0 0 0 0 7
Rubinstein-Taybi syndrome due to CREBBP mutations 2 5 0 0 0 0 7
Bohring-Opitz syndrome 2 4 0 0 0 0 6
Bosch-Boonstra-Schaaf optic atrophy syndrome 2 4 0 0 0 0 6
Cornelia de Lange syndrome 1 4 2 0 0 0 0 6
DYRK1A-related intellectual disability syndrome 2 3 1 0 0 0 6
Developmental and epileptic encephalopathy, 11 3 3 0 0 0 0 6
Early-onset myopathy with fatal cardiomyopathy 0 2 4 0 0 0 6
Encephalopathy 3 3 0 0 0 0 6
Kabuki syndrome 1 5 1 0 0 0 0 6
Kleefstra syndrome 1 4 2 0 0 0 0 6
Long QT syndrome 3 1 2 1 0 2 0 6
Microcephaly 2 4 0 0 0 0 6
Primary ciliary dyskinesia 7 4 0 2 0 0 0 6
Sotos syndrome 3 3 0 0 0 0 6
Syndromic X-linked intellectual disability Claes-Jensen type 1 5 0 0 0 0 6
Baraitser-Winter syndrome 1 3 2 0 0 0 0 5
Cystic fibrosis 5 0 0 0 0 0 5
Epileptic encephalopathy 2 3 0 0 0 0 5
Hearing impairment 5 0 0 0 0 0 5
Intellectual disability, autosomal dominant 14 2 3 0 0 0 0 5
Intellectual disability, autosomal dominant 5 3 1 1 0 0 0 5
Left ventricular noncompaction 10 1 0 4 0 0 0 5
Microcephalic primordial dwarfism, Alazami type 3 2 0 0 0 0 5
Noonan syndrome 1 5 0 0 0 0 0 5
Polycystic kidney disease, adult type 5 0 0 0 0 0 5
Renal cyst 3 2 0 0 0 0 5
Smith-Lemli-Opitz syndrome 2 3 0 0 0 0 5
Wiedemann-Steiner syndrome 2 3 0 0 0 0 5
8q24.3 microdeletion syndrome 1 2 1 0 0 0 4
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 3 1 0 0 0 0 4
Alopecia-intellectual disability syndrome 4 3 1 0 0 0 0 4
Alstrom syndrome 4 0 0 0 0 0 4
Arrhythmogenic right ventricular dysplasia 10 1 1 1 1 0 0 4
Asphyxiating thoracic dystrophy 3 2 2 0 0 0 0 4
Autosomal recessive ataxia due to ubiquinone deficiency 0 2 2 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 4 3 1 0 0 0 0 4
Autosomal recessive polycystic kidney disease 0 4 0 0 0 0 4
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 3 0 0 0 0 4
Charcot-Marie-Tooth disease type 4C 0 3 1 0 0 0 4
Coffin-Siris syndrome 1 2 2 0 0 0 0 4
Complex cortical dysplasia with other brain malformations 6 3 1 0 0 0 0 4
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2 2 0 0 0 0 4
Deficiency of alpha-mannosidase 2 2 0 0 0 0 4
Developmental and epileptic encephalopathy, 26 2 2 0 0 0 0 4
FOXG1 disorder 3 1 0 0 0 0 4
Intellectual disability, autosomal dominant 13 0 4 0 0 0 0 4
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 3 0 0 0 0 4
Long QT syndrome 1 1 3 0 0 0 0 4
Multiple endocrine neoplasia type 2B 0 0 3 0 1 0 4
Neonatal-onset encephalopathy with rigidity and seizures 4 0 0 0 0 0 4
Neurodevelopmental abnormality 1 3 0 0 0 0 4
O'Donnell-Luria-Rodan syndrome 3 0 1 0 0 0 4
Osteogenesis imperfecta type I 4 0 0 0 0 0 4
Phenylketonuria 3 1 0 0 0 0 4
Pitt-Hopkins syndrome 1 3 0 0 0 0 4
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 3 0 0 0 0 4
Usher syndrome type 2A 3 1 0 0 0 0 4
Van der Woude syndrome 1 2 2 0 0 0 0 4
X-linked Alport syndrome 2 2 0 0 0 0 4
Abnormal brain morphology 2 1 0 0 0 0 3
Achromatopsia 2 3 0 0 0 0 0 3
Autism spectrum disorder due to AUTS2 deficiency 2 1 0 0 0 0 3
Autosomal recessive cutis laxa type 2B 2 1 0 0 0 0 3
Beck-Fahrner syndrome 0 2 0 1 0 0 3
Borjeson-Forssman-Lehmann syndrome 2 1 0 0 0 0 3
CHARGE syndrome 3 0 0 0 0 0 3
Cardiofaciocutaneous syndrome 1 2 1 0 0 0 0 3
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 1 2 0 0 0 0 3
Chilton-Okur-Chung neurodevelopmental syndrome 0 0 1 2 0 0 3
Chromosome 2q32-q33 deletion syndrome 2 1 0 0 0 0 3
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 3 0 0 0 0 3
Complex cortical dysplasia with other brain malformations 1 1 2 0 0 0 0 3
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 2 0 0 0 0 3
Creatine transporter deficiency 2 1 0 0 0 0 3
Developmental and epileptic encephalopathy, 25 2 1 0 0 0 0 3
Developmental and epileptic encephalopathy, 7 3 0 0 0 0 0 3
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 2 0 0 0 0 3
Dias-Logan syndrome 1 2 0 0 0 0 3
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 1 1 0 1 0 0 3
Epilepsy, familial focal, with variable foci 1 2 1 0 0 0 0 3
Fetal cystic hygroma 3 0 0 0 0 0 3
Hyperphosphatasia with intellectual disability syndrome 4 3 0 0 0 0 0 3
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 2 0 0 0 0 3
Lamb-Shaffer syndrome 2 1 0 0 0 0 3
Leber optic atrophy 3 0 0 0 0 0 3
Macrocephaly 1 2 0 0 0 0 3
Megalencephaly-capillary malformation-polymicrogyria syndrome 3 0 0 0 0 0 3
Neonatal respiratory distress 0 3 0 0 0 0 3
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1 2 0 0 0 0 3
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 1 2 0 0 0 3
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 1 1 0 0 0 3
Neurodevelopmental disorder with or without autism or seizures 0 0 3 0 0 0 3
Neurofibromatosis, type 1 1 2 0 0 0 0 3
Neuronal ceroid lipofuscinosis 1 2 1 0 0 0 0 3
Noonan syndrome 1; LEOPARD syndrome 1 3 0 0 0 0 0 3
Noonan syndrome 4 3 0 0 0 0 0 3
Okur-Chung neurodevelopmental syndrome 2 1 0 0 0 0 3
PGM1-congenital disorder of glycosylation 3 0 0 0 0 0 3
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 2 0 0 0 0 3
PIK3CA related overgrowth syndrome 3 0 0 0 0 0 3
Parkinson disease, late-onset 2 1 0 0 0 0 3
Pheochromocytoma/paraganglioma syndrome 4 0 0 2 0 1 0 3
Polycystic kidney disease 2 3 0 0 0 0 0 3
Rothmund-Thomson syndrome 1 2 0 0 0 0 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 2 0 0 0 0 3
Seizures, benign familial infantile, 2 1 2 0 0 0 0 3
Simpson-Golabi-Behmel syndrome type 1 2 1 0 0 0 0 3
Ulnar deviation of the wrist 0 3 0 0 0 0 3
3-methylglutaconic aciduria, type VIIB 1 0 1 0 0 0 2
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 2 0 0 0 0 0 2
AICA-ribosiduria 1 0 1 0 0 0 2
ALG3-congenital disorder of glycosylation 2 0 0 0 0 0 2
Aarskog syndrome 1 0 0 1 0 0 2
Abnormal cerebral morphology 0 2 0 0 0 0 2
Al Kaissi syndrome 2 0 0 0 0 0 2
Allan-Herndon-Dudley syndrome 1 1 0 0 0 0 2
Alpha thalassemia-X-linked intellectual disability syndrome 1 0 0 1 0 0 2
Aminoglycoside-induced deafness 0 0 0 0 0 2 2
Anemia, congenital dyserythropoietic, type 1a 2 0 0 0 0 0 2
Angelman syndrome 1 1 0 0 0 0 2
Aortic aneurysm, familial thoracic 7 0 2 0 0 0 0 2
Arrhythmogenic right ventricular dysplasia 2 0 1 1 0 0 0 2
Arrhythmogenic right ventricular dysplasia 9 2 0 0 0 0 0 2
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 0 2 0 0 0 0 2
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 2 0 0 0 0 2
Autosomal recessive congenital ichthyosis 1 2 0 0 0 0 0 2
Autosomal recessive congenital ichthyosis 5 1 1 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 2 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2C 2 0 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 1 1 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 77 1 1 0 0 0 0 2
Autosomal recessive spinocerebellar ataxia 10 1 1 0 0 0 0 2
Autosomal recessive spinocerebellar ataxia 12 2 0 0 0 0 0 2
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 1 0 0 0 0 2
Birt-Hogg-Dube syndrome 1 0 1 0 0 0 2
Blepharophimosis, ptosis, and epicanthus inversus syndrome 2 0 0 0 0 0 2
Brain small vessel disease 1 with or without ocular anomalies 1 1 0 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 2 0 0 0 0 0 2
CODAS syndrome 0 2 0 0 0 0 2
Camptomelic dysplasia 1 1 0 0 0 0 2
Capillary malformation 2 0 0 0 0 0 2
Cerebrooculofacioskeletal syndrome 2 1 1 0 0 0 0 2
Charlevoix-Saguenay spastic ataxia 2 0 0 0 0 0 2
Coffin-Siris syndrome 8 0 2 0 0 0 0 2
Complex cortical dysplasia with other brain malformations 5 0 2 0 0 0 0 2
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 2 0 0 0 0 2
Congenital disorder of deglycosylation 0 2 0 0 0 0 2
Congenital hypothalamic hamartoma syndrome 0 2 0 0 0 0 2
Congenital ichthyosiform erythroderma 1 1 0 0 0 0 2
Congenital lactase deficiency 0 2 0 0 0 0 2
Congenital myasthenic syndrome 11 2 0 0 0 0 0 2
Costello syndrome 2 0 0 0 0 0 2
Developmental and epileptic encephalopathy, 14 0 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 17 0 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 33 1 1 0 0 0 0 2
Developmental and epileptic encephalopathy, 42 1 1 0 0 0 0 2
Developmental and epileptic encephalopathy, 65 0 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 8 1 0 1 0 0 0 2
Developmental and epileptic encephalopathy, 9 2 0 0 0 0 0 2
Developmental delay with variable intellectual disability and dysmorphic facies 1 0 0 1 0 0 2
Dilated cardiomyopathy 1A 0 0 2 0 0 0 2
Dilated cardiomyopathy 1D 0 0 2 0 0 0 2
Dilated cardiomyopathy 1L 0 0 2 0 0 0 2
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 1 1 0 0 0 0 2
Epidermolysis bullosa simplex 7, with nephropathy and deafness 1 1 0 0 0 0 2
Epilepsy with myoclonic atonic seizures 0 2 0 0 0 0 2
Epileptic spasm 0 2 0 0 0 0 2
Exudative vitreoretinopathy 4 1 1 0 0 0 0 2
Familial cancer of breast 2 0 0 0 0 0 2
Familial multiple nevi flammei 2 0 0 0 0 0 2
Fetal akinesia deformation sequence 1 0 2 0 0 0 0 2
Generalized hypotonia 1 1 0 0 0 0 2
Global developmental delay with speech and behavioral abnormalities 0 1 1 0 0 0 2
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 2 0 0 0 0 2
Global developmental delay; Autistic behavior; Intellectual disability; Attention deficit hyperactivity disorder 2 0 0 0 0 0 2
Global developmental delay; Autistic behavior; Seizure; Attention deficit hyperactivity disorder 2 0 0 0 0 0 2
Global developmental delay; Intellectual disability 1 1 0 0 0 0 2
Glycogen storage disease IXa1 0 2 0 0 0 0 2
HYAL2 Deficiency 0 2 0 0 0 0 2
Hemihypertrophy 2 0 0 0 0 0 2
Hereditary spastic paraplegia 11 0 2 0 0 0 0 2
Hereditary spastic paraplegia 31 1 1 0 0 0 0 2
Hereditary spastic paraplegia 3A 1 1 0 0 0 0 2
Hereditary spastic paraplegia 4 1 1 0 0 0 0 2
Hereditary spastic paraplegia 7 1 1 0 0 0 0 2
Houge-Janssens syndrome 1 1 1 0 0 0 0 2
Hyperphosphatasia with intellectual disability syndrome 3 1 1 0 0 0 0 2
Hypertrichotic osteochondrodysplasia Cantu type 0 2 0 0 0 0 2
Hypertrophic cardiomyopathy 1 0 2 0 0 0 0 2
Hypertrophic cardiomyopathy 10 0 1 1 0 0 0 2
Hypotonia 2 0 0 0 0 0 2
Hypotonia with lactic acidemia and hyperammonemia 0 2 0 0 0 0 2
Hypotonia, ataxia, and delayed development syndrome 2 0 0 0 0 0 2
Imagawa-Matsumoto syndrome 0 1 1 0 0 0 2
Infertility associated with multi-tailed spermatozoa and excessive DNA 2 0 0 0 0 0 2
Intellectual developmental disorder 61 1 1 0 0 0 0 2
Intellectual developmental disorder 62 0 2 0 0 0 0 2
Intellectual developmental disorder with autism and macrocephaly 0 2 0 0 0 0 2
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 1 1 0 0 0 2
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 1 1 0 0 0 0 2
Intellectual disability, autosomal dominant 22 0 2 0 0 0 0 2
Intellectual disability, autosomal dominant 41 0 2 0 0 0 0 2
Intellectual disability, autosomal dominant 6 0 0 2 0 0 0 2
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 2 0 0 0 0 2
Intellectual disability, autosomal dominant 9 2 0 0 0 0 0 2
Intellectual disability, autosomal recessive 27 0 2 0 0 0 0 2
Intellectual disability, autosomal recessive 43 0 2 0 0 0 0 2
Interstitial pneumonitis 2 0 0 0 0 0 2
Juvenile retinoschisis 1 1 0 0 0 0 2
Koolen-de Vries syndrome 1 1 0 0 0 0 2
Leydig cell agenesis 0 2 0 0 0 0 2
Lowe syndrome 2 0 0 0 0 0 2
Malan overgrowth syndrome 0 2 0 0 0 0 2
Metachromatic leukodystrophy 1 1 0 0 0 0 2
Methylmalonic aciduria and homocystinuria type cblD; Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 5 2 0 0 0 0 0 2
Microcephaly 18, primary, autosomal dominant 0 2 0 0 0 0 2
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 2 0 0 0 0 2
Migraine, familial hemiplegic, 1 1 1 0 0 0 0 2
Moderate global developmental delay 0 2 0 0 0 0 2
Mucolipidosis type II 2 0 0 0 0 0 2
Mucopolysaccharidosis type 7 2 0 0 0 0 0 2
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 2 0 0 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1 1 0 0 0 0 2
Nance-Horan syndrome 2 0 0 0 0 0 2
Nemaline myopathy 2 0 2 0 0 0 0 2
Neonatal hypotonia 1 1 0 0 0 0 2
Neurodevelopmental disorder with hypotonia and dysmorphic facies 2 0 0 0 0 0 2
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 1 0 0 0 2
Neurodevelopmental disorder with language impairment and behavioral abnormalities 1 0 1 0 0 0 2
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 0 1 0 0 0 2
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 2 0 0 0 0 2
Neuronal ceroid lipofuscinosis 3 2 0 0 0 0 0 2
Neuronopathy, distal hereditary motor, type 5A 2 0 0 0 0 0 2
Nicolaides-Baraitser syndrome 1 1 0 0 0 0 2
Noonan syndrome 7 2 0 0 0 0 0 2
Obesity due to pro-opiomelanocortin deficiency 2 0 0 0 0 0 2
Oculocutaneous albinism type 1B 1 1 0 0 0 0 2
Ogden syndrome 1 1 0 0 0 0 2
PHARC syndrome 0 2 0 0 0 0 2
PTBP2-related neurodevelopmental disease 2 0 0 0 0 0 2
Pelizaeus-Merzbacher disease 0 2 0 0 0 0 2
Persistent Mullerian duct syndrome 2 0 0 0 0 0 2
Phenytoin response 0 0 0 0 0 2 2
Polydactyly, postaxial, type a10 1 1 0 0 0 0 2
Progressive sclerosing poliodystrophy 2 0 0 0 0 0 2
Pyruvate dehydrogenase E1-alpha deficiency 2 0 0 0 0 0 2
Renal hypodysplasia/aplasia 3 0 1 1 0 0 0 2
Renal-hepatic-pancreatic dysplasia 2 0 2 0 0 0 0 2
Sandestig-stefanova syndrome 0 2 0 0 0 0 2
Severe early-childhood-onset retinal dystrophy 1 1 0 0 0 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 1 0 0 0 0 2
Severe global developmental delay 0 2 0 0 0 0 2
Shashi-Pena syndrome 2 0 0 0 0 0 2
Shprintzen-Goldberg syndrome 1 1 0 0 0 0 2
Skraban-Deardorff syndrome 2 0 0 0 0 0 2
Snijders Blok-Campeau syndrome 0 1 1 0 0 0 2
Spinocerebellar ataxia type 15/16 0 2 0 0 0 0 2
Spinocerebellar ataxia type 5 0 2 0 0 0 0 2
Spondylocarpotarsal synostosis syndrome 0 2 0 0 0 0 2
Spondylocostal dysostosis 1, autosomal recessive 1 1 0 0 0 0 2
Stickler syndrome type 1 1 1 0 0 0 0 2
Sudden infant death-dysgenesis of the testes syndrome 0 2 0 0 0 0 2
Syndromic X-linked intellectual disability Raymond type 0 2 0 0 0 0 2
Syndromic microphthalmia type 5 2 0 0 0 0 0 2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 1 1 0 0 0 2
Trichothiodystrophy 4, nonphotosensitive 2 0 0 0 0 0 2
Tuberous sclerosis 2 2 0 0 0 0 0 2
Ulnar-mammary syndrome 1 1 0 0 0 0 2
Usher syndrome type 2C 1 1 0 0 0 0 2
X-linked Opitz G/BBB syndrome 0 2 0 0 0 0 2
X-linked intellectual disability Cabezas type 1 1 0 0 0 0 2
15q11q13 microduplication syndrome 1 0 0 0 0 0 1
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 1 0 0 0 0 0 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 0 0 0 0 0 1
46,XY sex reversal 3 0 1 0 0 0 0 1
4p partial monosomy syndrome 1 0 0 0 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 0 0 0 1
ALDH18A1-related de Barsy syndrome 0 1 0 0 0 0 1
Abdominal obesity-metabolic syndrome 3 0 1 0 0 0 0 1
Abnormal facial shape 0 1 0 0 0 0 1
Abnormal pyramidal sign 0 1 0 0 0 0 1
Achondroplasia 1 0 0 0 0 0 1
Acne inversa, familial, 1 0 1 0 0 0 0 1
Acromelic frontonasal dysostosis 1 0 0 0 0 0 1
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 1 0 0 0 0 0 1
Acute intermittent porphyria 0 1 0 0 0 0 1
Adams-Oliver syndrome 2 1 0 0 0 0 0 1
Adams-Oliver syndrome 4 0 0 1 0 0 0 1
Adult hypophosphatasia 1 0 0 0 0 0 1
Agnathia-otocephaly complex 0 1 0 0 0 0 1
Aicardi-Goutieres syndrome 1 0 1 0 0 0 0 1
Aicardi-Goutieres syndrome 2 1 0 0 0 0 0 1
Al-Raqad syndrome 0 1 0 0 0 0 1
Aland island eye disease 1 0 0 0 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 0 0 0 1
Andersen Tawil syndrome 1 0 0 0 0 0 1
Angioosteohypertrophic syndrome 1 0 0 0 0 0 1
Aniridia 1 0 1 0 0 0 0 1
Anxiety; Intellectual disability 0 1 0 0 0 0 1
Aortic aneurysm 1 0 0 0 0 0 1
Aortic valve disease 1 0 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 0 1 0 0 0 1
Arterial tortuosity syndrome 1 0 0 0 0 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome 1 0 0 0 0 0 1
Ataxia-telangiectasia-like disorder 1 1 0 0 0 0 0 1
Atrial conduction disease 0 1 0 0 0 0 1
Au-Kline syndrome 0 1 0 0 0 0 1
Autism, susceptibility to, X-linked 1 0 0 1 0 0 0 1
Autistic behavior; Aggressive behavior; Moderate global developmental delay; Attention deficit hyperactivity disorder 0 1 0 0 0 0 1
Autistic behavior; Aggressive behavior; Severe global developmental delay; Limb myoclonus 0 1 0 0 0 0 1
Autistic behavior; Attention deficit hyperactivity disorder 0 1 0 0 0 0 1
Autistic behavior; Delayed fine motor development; Moderate global developmental delay; Attention deficit hyperactivity disorder 0 1 0 0 0 0 1
Autistic behavior; Delayed fine motor development; Severe global developmental delay; Abnormal brainstem MRI signal intensity 0 1 0 0 0 0 1
Autosomal dominant Alport syndrome 0 1 0 0 0 0 1
Autosomal dominant Opitz G/BBB syndrome 0 1 0 0 0 0 1
Autosomal dominant hypocalcemia 1 0 1 0 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 5 1 0 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 1 0 0 0 0 0 1
Autosomal recessive Alport syndrome 0 1 0 0 0 0 1
Autosomal recessive congenital ichthyosis 4B 1 0 0 0 0 0 1
Autosomal recessive congenital ichthyosis 6 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 16 1 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 1 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 3 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 67 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 74 0 1 0 0 0 0 1
Axenfeld-Rieger syndrome type 3 0 1 0 0 0 0 1
Bartter disease type 5 1 0 0 0 0 0 1
Benign familial hematuria 0 1 0 0 0 0 1
Bethlem myopathy 1A 1 0 0 0 0 0 1
Blepharophimosis - intellectual disability syndrome 0 1 0 0 0 0 1
Bone marrow failure syndrome 3 1 0 0 0 0 0 1
Brachyolmia-amelogenesis imperfecta syndrome 0 0 1 0 0 0 1
Brain malformations with or without urinary tract defects 1 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 1
Brain-lung-thyroid syndrome 1 0 0 0 0 0 1
Branchiooculofacial syndrome 0 1 0 0 0 0 1
Branchiootorenal syndrome 1 1 0 0 0 0 0 1
Brugada syndrome 2 0 0 0 1 0 0 1
Brugada syndrome 7 0 1 0 0 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 1 1 0 0 0 0 0 1
COG7 congenital disorder of glycosylation 1 0 0 0 0 0 1
Capillary malformation-arteriovenous malformation 1 1 0 0 0 0 0 1
Capillary malformation-arteriovenous malformation 2 0 1 0 0 0 0 1
Cardiac valvular dysplasia, X-linked 0 1 0 0 0 0 1
Cardiac-urogenital syndrome 0 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 3 0 1 0 0 0 0 1
Cardiomyopathy, familial hypertrophic, 28 1 0 0 0 0 0 1
Cataract 9 multiple types 1 0 0 0 0 0 1
Catel-Manzke syndrome 1 0 0 0 0 0 1
Cerebellar ataxia 1 0 0 0 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 0 0 0 0 0 1
Cerebral cavernous malformation 1 0 0 0 0 0 1
Cerebral cavernous malformation 3 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2F 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2N 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate E 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 1F; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, dominant intermediate G 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease, type IA 1 0 0 0 0 0 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 1 0 0 0 0 1
Chromosome 1p32-p31 deletion syndrome 1 0 0 0 0 0 1
Chronic diarrhea 0 1 0 0 0 0 1
Clark-Baraitser syndrome 0 1 0 0 0 0 1
Cleft palate 1 0 0 0 0 0 1
Coffin-Lowry syndrome 0 1 0 0 0 0 1
Coffin-Siris syndrome 10 0 0 1 0 0 0 1
Coffin-Siris syndrome 12 0 1 0 0 0 0 1
Coffin-Siris syndrome 5 0 1 0 0 0 0 1
Coffin-Siris syndrome 6 0 1 0 0 0 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 0 0 0 1
Colorectal cancer, hereditary nonpolyposis, type 7 0 0 1 0 0 0 1
Congenital disorder of glycosylation with defective fucosylation 1 0 1 0 0 0 0 1
Congenital heart defects, multiple types, 7 0 1 0 0 0 0 1
Congenital macrodactylia 1 0 0 0 0 0 1
Congenital myasthenic syndrome 20 0 1 0 0 0 0 1
Congenital myotonia, autosomal recessive form 1 0 0 0 0 0 1
Congenital ocular coloboma; Overgrowth; Macrocephaly; Large hands; Congenital anomaly of face; Learning disability 0 1 0 0 0 0 1
Congenital stationary night blindness 1B 0 1 0 0 0 0 1
Congenital stationary night blindness 1C 1 0 0 0 0 0 1
Cornelia de Lange syndrome 3 0 1 0 0 0 0 1
Cornelia de Lange syndrome 4 1 0 0 0 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 0 1
Corpus callosum, agenesis of 1 0 0 0 0 0 1
Cowden syndrome 1 1 0 0 0 0 0 1
Coxopodopatellar syndrome 0 1 0 0 0 0 1
Cranioectodermal dysplasia 1 0 1 0 0 0 0 1
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 1 0 0 0 0 0 1
Craniofrontonasal syndrome 0 1 0 0 0 0 1
Craniosynostosis syndrome 1 0 0 0 0 0 1
Cutis laxa, autosomal recessive, type 1B 1 0 0 0 0 0 1
Deafness, X-linked 5 1 0 0 0 0 0 1
Demyelinating peripheral neuropathy 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy 116 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy 94 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy 97 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy 99 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 19 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 24 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 31A 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 32 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 43 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 5 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 54 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 71 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 77 0 1 0 0 0 0 1
Developmental delay with dysmorphic facies and dental anomalies 1 0 0 0 0 0 1
Developmental delay with or without dysmorphic facies and autism 1 0 0 0 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 0 1 0 0 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 0 0 0 0 1
Developmental delay with variable neurologic and brain abnormalities 0 1 0 0 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 1 0 0 0 0 0 1
Dilated cardiomyopathy 1DD 1 0 0 0 0 0 1
Dilated cardiomyopathy 1I 0 0 1 0 0 0 1
Distal arthrogryposis 0 1 0 0 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 1 0 0 0 0 1
Dyggve-Melchior-Clausen syndrome 1 0 0 0 0 0 1
Dystonia 5 1 0 0 0 0 0 1
EEG abnormality; Gait disturbance; Abnormal facial shape; Absent speech; Inflexible adherence to routines; Generalized hypotonia; Cortical dysplasia; Severe global developmental delay; Hypoplastic anterior commissure; Hypoplastic hippocampus 0 1 0 0 0 0 1
Early-onset generalized limb-onset dystonia 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 1 0 0 0 0 0 1
Ehlers-Danlos syndrome, type 4 1 0 0 0 0 0 1
Ellis-van Creveld syndrome 1 0 0 0 0 0 1
Encephalocraniocutaneous lipomatosis 1 0 0 0 0 0 1
Encephalopathy due to GLUT1 deficiency 0 1 0 0 0 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 1 0 0 0 0 1
Epicanthus; Delayed speech and language development; Synophrys; High, narrow palate 0 0 0 1 0 0 1
Epilepsy, early-onset, with or without developmental delay 0 0 1 0 0 0 1
Epilepsy, familial focal, with variable foci 3 1 0 0 0 0 0 1
Episodic kinesigenic dyskinesia 1 1 0 0 0 0 0 1
Exercise-induced hyperinsulinism 0 1 0 0 0 0 1
FG syndrome 1 0 1 0 0 0 0 1
FG syndrome 4 1 0 0 0 0 0 1
FRAXE 0 0 1 0 0 0 1
Familial adenomatous polyposis 1 0 0 1 0 0 0 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Prostate cancer 0 1 0 0 0 0 1
Familial isolated deficiency of vitamin E 1 0 0 0 0 0 1
Fanconi anemia complementation group A 1 0 0 0 0 0 1
Fibromuscular dysplasia, multifocal 0 0 1 0 0 0 1
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 0 1 0 0 0 0 1
Finnish congenital nephrotic syndrome 1 0 0 0 0 0 1
Floating-Harbor syndrome 1 0 0 0 0 0 1
Focal segmental glomerulosclerosis 5 0 1 0 0 0 0 1
Focal segmental glomerulosclerosis 7 0 1 0 0 0 0 1
Frontorhiny 0 1 0 0 0 0 1
Frontotemporal dementia 1 0 0 0 0 0 1
GM3 synthase deficiency 0 1 0 0 0 0 1
Gait ataxia; Hypoplasia of the frontal lobes; Delayed fine motor development; Severe global developmental delay 0 1 0 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 10 0 1 0 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 9 1 0 0 0 0 0 1
Genitopatellar syndrome 1 0 0 0 0 0 1
Global developmental delay with or without impaired intellectual development 0 0 1 0 0 0 1
Global developmental delay; Delayed speech and language development 1 0 0 0 0 0 1
Global developmental delay; Fetal growth restriction; Retrognathia; Blue sclerae; Delayed speech and language development; Pes valgus; Prominent forehead; Abnormality of mouth size 0 0 1 0 0 0 1
Global developmental delay; Specific learning disability 1 0 0 0 0 0 1
Global developmental delay; Specific learning disability; Intellectual disability 1 0 0 0 0 0 1
Glomuvenous malformation 0 1 0 0 0 0 1
Glycogen storage disease, type II 1 0 0 0 0 0 1
Glycogen storage disease, type VI 1 0 0 0 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 1 0 0 0 0 1
HSD10 mitochondrial disease 0 1 0 0 0 0 1
Hamartoma 1 0 0 0 0 0 1
Hearing loss 0 1 0 0 0 0 1
Hearing loss, autosomal recessive 116 1 0 0 0 0 0 1
Hemangiomatosis 1 0 0 0 0 0 1
Hemiplegia/hemiparesis 0 1 0 0 0 0 1
Hemochromatosis type 1 1 0 0 0 0 0 1
Hereditary cryohydrocytosis with reduced stomatin 0 1 0 0 0 0 1
Hereditary factor XI deficiency disease 1 0 0 0 0 0 1
Hereditary lymphedema type I 1 0 0 0 0 0 1
Hereditary spastic paraplegia 17 1 0 0 0 0 0 1
Hereditary spastic paraplegia 30; Intellectual disability, autosomal dominant 9 1 0 0 0 0 0 1
Hereditary spastic paraplegia 52 1 0 0 0 0 0 1
Hereditary spastic paraplegia 8 0 1 0 0 0 0 1
Hereditary spherocytosis type 1 1 0 0 0 0 0 1
Hermansky-Pudlak syndrome 3 0 1 0 0 0 0 1
Heterotaxy, visceral, 8, autosomal 1 0 0 0 0 0 1
Heterotopia, periventricular, X-linked dominant 1 0 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 1 0 0 0 0 1
Houge-Janssens syndrome 2 0 1 0 0 0 0 1
Hypercholesterolemia, autosomal dominant, 3 0 0 1 0 0 0 1
Hypertelorism; Congenital cleft nose; Low-set ears; Tessier cleft; Facial asymmetry; Upper eyelid coloboma; Limbal dermoid; Pericallosal lipoma; Skin tags; Abnormal frontal bone morphology 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 4 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy 8 0 0 1 0 0 0 1
Hypodontia 1 0 0 0 0 0 1
Hypogonadism with anosmia 1 0 0 0 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 0 0 1
Hypokalemic periodic paralysis, type 1 0 0 1 0 0 0 1
Hypoplasia of scrotum 0 1 0 0 0 0 1
Ichthyosis vulgaris 0 1 0 0 0 0 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 1 0 0 0 0 0 1
Increased nuchal translucency 1 0 0 0 0 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 0 1 0 0 0 1
Infantile-onset ascending hereditary spastic paralysis 0 1 0 0 0 0 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 1 0 0 0 0 1
Intellectual developmental disorder with autism and speech delay 1 0 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 1 0 0 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 1 0 0 0 0 0 1
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0 1 0 0 0 0 1
Intellectual developmental disorder, autosomal recessive 67 1 0 0 0 0 0 1
Intellectual disability, X-linked 1 1 0 0 0 0 0 1
Intellectual disability, X-linked 19 0 0 0 1 0 0 1
Intellectual disability, X-linked 21 1 0 0 0 0 0 1
Intellectual disability, X-linked 30 0 1 0 0 0 0 1
Intellectual disability, X-linked 49 0 0 1 0 0 0 1
Intellectual disability, X-linked 50 1 0 0 0 0 0 1
Intellectual disability, X-linked 58 0 0 0 1 0 0 1
Intellectual disability, X-linked 93 0 1 0 0 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 1 0 0 0 0 0 1
Intellectual disability, X-linked syndromic, Turner type 1 0 0 0 0 0 1
Intellectual disability, X-linked, syndromic 33 0 1 0 0 0 0 1
Intellectual disability, X-linked, with or without seizures, ARX-related 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 15 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 16 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 24 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 29 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 39 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 40 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 43 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 46 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 50 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 51 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 53 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 57 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 58 0 1 0 0 0 0 1
Intellectual disability, autosomal recessive 13 0 1 0 0 0 0 1
Intellectual disability, autosomal recessive 18 0 1 0 0 0 0 1
Intellectual disability, autosomal recessive 46 1 0 0 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 0 1
Joubert syndrome 21 0 1 0 0 0 0 1
Kabuki syndrome 2 0 1 0 0 0 0 1
Kidney damage 1 0 0 0 0 0 1
Kindler syndrome 1 0 0 0 0 0 1
Klippel-Feil syndrome 1, autosomal dominant 0 0 1 0 0 0 1
Kohlschutter-Tonz syndrome-like 1 0 0 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 0 1
Landau-Kleffner syndrome 0 1 0 0 0 0 1
Language disorder; Severe global developmental delay; Epileptic encephalopathy 1 0 0 0 0 0 1
Larsen syndrome 0 1 0 0 0 0 1
Leigh syndrome 1 0 0 0 0 0 1
Lethal congenital contracture syndrome 11 0 1 0 0 0 0 1
Levy-Hollister syndrome 1 0 0 0 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 0 0 1
Linear nevus sebaceous syndrome 1 0 0 0 0 0 1
Lissencephaly due to TUBA1A mutation 0 1 0 0 0 0 1
Long QT syndrome 12 0 0 0 1 0 0 1
Long QT syndrome 6 0 0 1 0 0 0 1
Long QT syndrome 9 0 0 1 0 0 0 1
Lymphatic malformation 7 0 1 0 0 0 0 1
Lynch syndrome 4 0 1 0 0 0 0 1
Lynch syndrome 5 1 0 0 0 0 0 1
MEHMO syndrome 0 1 0 0 0 0 1
MIRAGE syndrome 0 1 0 0 0 0 1
Macrocephaly-autism syndrome 0 1 0 0 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 0 0 0 0 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 1 0 0 0 0 1
Malignant hyperthermia, susceptibility to, 1 1 0 0 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 0 0 1
Marshall-Smith syndrome 0 1 0 0 0 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 1 0 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 1 0 0 0 0 1
Menke-Hennekam syndrome 1 0 1 0 0 0 0 1
Microcephaly 26, primary, autosomal dominant 0 0 0 1 0 0 1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 1 0 0 0 0 0 1
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 1 0 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 0 0 1
Microphthalmia, isolated, with coloboma 5 0 1 0 0 0 0 1
Microphthalmia, syndromic 12 0 1 0 0 0 0 1
Migraine, familial hemiplegic, 2 1 0 0 0 0 0 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 1 0 0 0 0 0 1
Mitochondrial complex III deficiency nuclear type 5 1 0 0 0 0 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 1 0 0 0 0 1
Motor delay 0 1 0 0 0 0 1
Motor delay; Abnormal facial shape; Absent speech; Poor speech; Severe intellectual disability 1 0 0 0 0 0 1
Motor delay; Dysmorphic features; Developmental delay; brain structure abnormalities 0 1 0 0 0 0 1
Mowat-Wilson syndrome 0 1 0 0 0 0 1
Moyamoya disease 2 0 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 0 0 1 0 0 1
Mulibrey nanism syndrome 0 1 0 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 0 0 0 1
Multiple epiphyseal dysplasia type 4 1 0 0 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 0 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 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 1
Myhre syndrome 1 0 0 0 0 0 1
Myopathy 0 1 0 0 0 0 1
Nail-patella syndrome 0 1 0 0 0 0 1
Nephronophthisis 12 1 0 0 0 0 0 1
Neural tube defect 1 0 0 0 0 0 1
Neurodegeneration with brain iron accumulation 5 0 1 0 0 0 0 1
Neurodegeneration with brain iron accumulation 8 0 1 0 0 0 0 1
Neurodevelopmental delay with neutropenia 0 0 1 0 0 0 1
Neurodevelopmental disorder with central and peripheral motor dysfunction 0 0 1 0 0 0 1
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 0 1 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 0 0 0 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 1 0 0 0 0 1
Neurodevelopmental disorder with microcephaly, ataxia, and seizures 0 1 0 0 0 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 1 0 0 0 0 0 1
Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction 0 1 0 0 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 1 0 0 0 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 1 0 0 0 0 1
Neurodevelopmental disorder with seizures and gingival overgrowth 0 1 0 0 0 0 1
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0 1 0 0 0 0 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 0 0 0 0 0 1
Neurofibromatosis, familial spinal 1 0 0 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 0 1 0 0 0 0 1
Neurooculocardiogenitourinary syndrome 1 0 0 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 1A 0 1 0 0 0 0 1
Nevus sebaceous 1 0 0 0 0 0 1
Noonan syndrome 10 1 0 0 0 0 0 1
Noonan syndrome 2; Noonan syndrome 10 0 0 1 0 0 0 1
Noonan syndrome 6 1 0 0 0 0 0 1
Noonan syndrome 8 1 0 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 0 0 0 0 1
Obesity due to leptin receptor gene deficiency 1 0 0 0 0 0 1
Ocular albinism, type I 1 0 0 0 0 0 1
Oculocerebrofacial syndrome, Kaufman type 0 1 0 0 0 0 1
Oculofaciocardiodental syndrome 0 1 0 0 0 0 1
Oculopharyngeal muscular dystrophy 1 1 0 0 0 0 0 1
Optic atrophy 1 0 0 0 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 0 0 0 1
Osteocraniostenosis 1 0 0 0 0 0 1
Osteogenesis imperfecta 1 0 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 1 0 0 0 0 1
Osteogenesis imperfecta, perinatal lethal 0 1 0 0 0 0 1
Pallister-Killian syndrome 1 0 0 0 0 0 1
Partial androgen insensitivity syndrome 1 0 0 0 0 0 1
Pericallosal lipoma; Skin tags; Midline facial cleft 0 0 1 0 0 0 1
Peters plus syndrome 1 0 0 0 0 0 1
Pfeiffer syndrome 1 0 0 0 0 0 1
Phelan-McDermid syndrome 1 0 0 0 0 0 1
Pigmentary pallidal degeneration 1 0 0 0 0 0 1
Poikiloderma with neutropenia 0 1 0 0 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 1 0 0 0 0 0 1
Polycystic liver disease 2 1 0 0 0 0 0 1
Pontocerebellar hypoplasia, type 1D 1 0 0 0 0 0 1
Porencephaly 1 0 0 0 0 0 1
Porencephaly-microcephaly-bilateral congenital cataract syndrome 1 0 0 0 0 0 1
Preauricular skin tag; Pericallosal lipoma; Skin tags 0 0 1 0 0 0 1
Primary ciliary dyskinesia 1 0 0 0 0 0 1
Primary ciliary dyskinesia 3 1 0 0 0 0 0 1
Progressive cerebellar ataxia 0 1 0 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 1 0 0 0 0 0 1
Proximal symphalangism 1A 0 1 0 0 0 0 1
Prune belly syndrome 0 1 0 0 0 0 1
Pyridoxine-dependent epilepsy 1 0 0 0 0 0 1
Rahman syndrome 1 0 0 0 0 0 1
Renal coloboma syndrome 1 0 0 0 0 0 1
Renal cortical hyperechogenicity 0 1 0 0 0 0 1
Renal tubular dysgenesis 0 1 0 0 0 0 1
Renpenning syndrome 1 0 0 0 0 0 1
Retinitis pigmentosa 11 0 1 0 0 0 0 1
Retinitis pigmentosa 18 0 1 0 0 0 0 1
Retinitis pigmentosa 3 1 0 0 0 0 0 1
Retinitis pigmentosa 4 0 1 0 0 0 0 1
Right atrial isomerism 1 0 0 0 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 0 0 0 0 1
SSR4-congenital disorder of glycosylation 0 1 0 0 0 0 1
Saethre-Chotzen syndrome 1 0 0 0 0 0 1
Schinzel-Giedion syndrome 1 0 0 0 0 0 1
Schneckenbecken dysplasia 0 1 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 0 1
Seizure; Aggressive behavior; Gait disturbance; Delayed fine motor development; Severe global developmental delay 0 1 0 0 0 0 1
Seizure; Atypical behavior; Aplasia/Hypoplasia of the corpus callosum; Moderate global developmental delay 1 0 0 0 0 0 1
Seizure; Gait ataxia; Delayed fine motor development; Severe global developmental delay; Focal cortical dysplasia 0 1 0 0 0 0 1
Seizure; Intellectual disability 1 0 0 0 0 0 1
Seizures, benign familial infantile, 3 0 1 0 0 0 0 1
Seizures, benign familial infantile, 5 1 0 0 0 0 0 1
Seizures, benign familial neonatal, 1 1 0 0 0 0 0 1
Severe X-linked myotubular myopathy 0 1 0 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 0 1 0 0 0 0 1
Severe intellectual disability 1 0 0 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 1 0 0 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 0 0 0 1
Severe neonatal-onset encephalopathy with microcephaly 0 1 0 0 0 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 1 0 0 0 0 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 0 0 0 1
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 0 1 0 0 0 0 1
Short-rib thoracic dysplasia 14 with polydactyly 1 0 0 0 0 0 1
Sick sinus syndrome 1 1 0 0 0 0 0 1
Spastic paraplegia 80, autosomal dominant 1 0 0 0 0 0 1
Specific learning disability 1 0 0 0 0 0 1
Spermatogenic failure 19 0 1 0 0 0 0 1
Spinal muscular atrophy with congenital bone fractures 2 0 1 0 0 0 0 1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 1 0 0 0 0 1
Spinocerebellar ataxia type 19/22 0 1 0 0 0 0 1
Spinocerebellar ataxia type 28 0 1 0 0 0 0 1
Spinocerebellar ataxia type 34 1 0 0 0 0 0 1
Spondylocostal dysostosis 3, autosomal recessive 0 1 0 0 0 0 1
Spondylocostal dysostosis 4, autosomal recessive 0 1 0 0 0 0 1
Spondyloenchondrodysplasia with immune dysregulation 1 0 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, Strudwick type 1 0 0 0 0 0 1
Spondyloepiphyseal dysplasia tarda 0 1 0 0 0 0 1
Spondyloepiphyseal dysplasia, Stanescu type 1 0 0 0 0 0 1
Stickler syndrome type 2 0 1 0 0 0 0 1
Syndromic X-linked intellectual disability Siderius type 0 1 0 0 0 0 1
TCF12-related craniosynostosis 1 0 0 0 0 0 1
TELO2-related intellectual disability-neurodevelopmental disorder 0 0 1 0 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 0 1 0 0 0 0 1
Tay-Sachs disease 1 0 0 0 0 0 1
Teebi hypertelorism syndrome; Autosomal dominant Opitz G/BBB syndrome 0 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 0 1 0 0 0 1
Tessier cleft 1 0 0 0 0 0 1
Tetralogy of Fallot 1 0 0 0 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 0 0 1
Thrombophilia due to protein C deficiency, autosomal recessive 1 0 0 0 0 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 0 1 0 0 0 1
Thyroid hormone resistance, generalized, autosomal dominant 1 0 0 0 0 0 1
Tietz syndrome; Waardenburg syndrome type 2A 0 1 0 0 0 0 1
Tooth agenesis, selective, 3 0 1 0 0 0 0 1
Tuberous sclerosis 1 0 0 0 0 1 0 1
Turnpenny-fry syndrome 1 0 0 0 0 0 1
Ullrich congenital muscular dystrophy 1A 0 1 0 0 0 0 1
Urofacial syndrome 2 0 1 0 0 0 0 1
VPS13A-related neurodegenerative disease 0 1 0 0 0 0 1
Van den Ende-Gupta syndrome 0 1 0 0 0 0 1
Ventriculomegaly 1 0 0 0 0 0 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 1 0 0 0 0 1
Ververi-Brady syndrome 0 1 0 0 0 0 1
Visceral myopathy 1 0 1 0 0 0 0 1
Vissers-Bodmer syndrome 0 1 0 0 0 0 1
Weaver syndrome 1 0 0 0 0 0 1
Wolfram-like syndrome 1 0 0 0 0 0 1
X-linked complicated corpus callosum dysgenesis 1 0 0 0 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 0 0 1
X-linked intellectual disability, van Esch type 0 0 1 0 0 0 1
Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 1 0 0 0 0 0 1
von Willebrand disease type 1 0 1 0 0 0 0 1
von Willebrand disease type 2 1 0 0 0 0 0 1

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