ClinVar Miner

Variants from First Genomix Gene Laboratory, Genetic Diagnostics Department

Location: United Arab Emirates  Primary collection method: clinical testing
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
708 1766 13 0 0 2487

Gene and significance breakdown #

Total genes and gene combinations: 1346
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCA4 17 4 0 21
CFTR 13 7 0 20
PKHD1L1 1 15 0 16
HBB, LOC106099062, LOC107133510 10 2 0 12
ATP7B 5 6 0 11
USH2A 4 7 0 11
GJB2 8 2 0 10
SLC12A3 3 7 0 10
ABCC6 5 4 0 9
DNAH7 0 9 0 9
PCDH15 1 8 0 9
SLC26A4 1 8 0 9
VWA3B 0 9 0 9
AHI1 4 4 0 8
ARSA 6 2 0 8
COL4A4 3 5 0 8
DNHD1 1 7 0 8
EYS 3 5 0 8
CUBN 1 6 0 7
DNAH9 2 5 0 7
DUOX2 1 6 0 7
F11 1 6 0 7
GALNS 0 7 0 7
POLG 2 5 0 7
RECQL4 1 6 0 7
SLC22A5 3 4 0 7
VWF 2 5 0 7
ACADVL 1 5 0 6
ASL 2 4 0 6
ATP13A2 0 6 0 6
CAPN3 3 3 0 6
CNGA3 1 5 0 6
COL7A1 2 4 0 6
DNAH2 0 6 0 6
DNAH5 4 2 0 6
HOGA1 4 2 0 6
MYO15A 4 2 0 6
NPC1 1 5 0 6
OCA2 4 2 0 6
SLC10A1 1 5 0 6
SPG7 4 2 0 6
TEX15 0 6 0 6
TYR 6 0 0 6
UVSSA 0 6 0 6
ABHD14A-ACY1, ACY1 1 4 0 5
AGXT 4 1 0 5
CNGB1 0 5 0 5
DHTKD1 1 4 0 5
DNAAF1 0 5 0 5
DNAH8 1 4 0 5
DST 0 5 0 5
DYNC2H1 3 2 0 5
FAM161A 2 3 0 5
FCSK 0 5 0 5
FSIP2 0 5 0 5
FYCO1 2 3 0 5
GCDH 3 2 0 5
IFT43 0 5 0 5
IQCN 1 4 0 5
KCNV2 2 3 0 5
MMUT 1 4 0 5
MYO7A 0 4 1 5
OBSL1 0 5 0 5
PKHD1 1 4 0 5
PLA2G6 2 3 0 5
SI 2 3 0 5
SMPD1 2 3 0 5
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 4 0 5
USP45 0 5 0 5
ABCA12 1 3 0 4
ABCA5 1 3 0 4
ABCC2 1 3 0 4
ACADSB 3 1 0 4
ADA2 3 1 0 4
ADGRV1 2 2 0 4
ALPL 1 3 0 4
AMPD1 0 4 0 4
ASS1 3 1 0 4
BTD 2 2 0 4
C1QTNF5, MFRP 3 1 0 4
CARS2 1 3 0 4
CBS 4 0 0 4
CLCN1 4 0 0 4
CPLANE1 2 2 0 4
CRB1 1 3 0 4
DNAH10 0 4 0 4
DPYD 1 3 0 4
F7 1 3 0 4
FKRP 1 3 0 4
G6PD 4 0 0 4
GAA 4 0 0 4
GALC 2 2 0 4
GBE1 0 4 0 4
GLB1 3 1 0 4
GLDC 1 3 0 4
GNRHR 3 1 0 4
GYS2 2 2 0 4
HFM1 0 4 0 4
IFIH1 1 3 0 4
KIAA0586 1 3 0 4
LAMA2 1 3 0 4
LAMA5 0 4 0 4
LOC126862264, MEFV 4 0 0 4
LOXHD1 2 2 0 4
MCCC2 1 3 0 4
MEFV 1 3 0 4
MPL 1 3 0 4
MTRR 1 3 0 4
MUTYH 4 0 0 4
NR2E3 1 3 0 4
OPLAH 1 3 0 4
OTOGL 0 4 0 4
PAH 2 2 0 4
PIGN 2 2 0 4
PYGM 0 4 0 4
RAB3GAP1 1 3 0 4
RARS2 1 3 0 4
RP1L1 0 4 0 4
SERPINC1 2 2 0 4
SLC25A13 2 2 0 4
SLC3A1 3 1 0 4
SLC45A2 2 2 0 4
SUGCT 2 2 0 4
TG 1 3 0 4
TGM5 1 3 0 4
TH 1 3 0 4
TRIOBP 1 3 0 4
TRPM1 2 2 0 4
TSHR 2 2 0 4
ABCC8 1 2 0 3
ABCG8 2 1 0 3
ACADS 1 2 0 3
ACE 1 1 1 3
ACSF3 0 3 0 3
ADGRG1 3 0 0 3
AK9 0 3 0 3
ALG3 0 3 0 3
ALOXE3 1 2 0 3
ANGPTL3, DOCK7 0 3 0 3
ANO5 2 1 0 3
AP4B1 1 2 0 3
AP5Z1 1 2 0 3
ASPM 1 2 0 3
ATIC 0 3 0 3
ATP6V0A4 2 1 0 3
BCKDHA 1 2 0 3
BRCA2 1 2 0 3
BRIP1 2 1 0 3
BSCL2, HNRNPUL2-BSCL2 1 2 0 3
CC2D2A 0 3 0 3
CCDC146 0 3 0 3
CDK5RAP2 0 3 0 3
CEP290 1 2 0 3
CEP63 0 3 0 3
CEP78 0 3 0 3
CERKL 0 3 0 3
CFAP251 1 2 0 3
CFAP43 0 3 0 3
CFAP61 2 1 0 3
CFTR, LOC111674472 1 2 0 3
CHRNG 2 1 0 3
CLN3 0 3 0 3
COG1 0 3 0 3
COQ8B 1 2 0 3
CPT2 2 1 0 3
CTU2 0 3 0 3
CYP11B1, LOC106799833 1 2 0 3
CYP1B1 2 1 0 3
CYP24A1 2 1 0 3
CYP4F22 1 1 1 3
DHCR7 2 1 0 3
DISP1 0 3 0 3
DNAAF11 1 2 0 3
DNAH1 0 3 0 3
DOCK6 1 2 0 3
DOCK8 0 3 0 3
DSG1, DSG4 0 3 0 3
ERCC2 1 2 0 3
ETHE1 2 1 0 3
EXOSC3 1 2 0 3
FANCI 1 2 0 3
FANCM 1 2 0 3
FCN3 1 2 0 3
FREM2 0 3 0 3
FTCD 2 1 0 3
GCNT2 0 3 0 3
GEMIN5 0 3 0 3
GPHN, RDH12 3 0 0 3
GRK1 1 2 0 3
HEXB 2 1 0 3
HFE 2 1 0 3
HGD 0 2 1 3
HMGCS2 1 2 0 3
HYDIN 0 3 0 3
IL11RA 0 3 0 3
ITGB6 0 3 0 3
KRT83 1 2 0 3
LAMC3 1 2 0 3
LIAS 1 2 0 3
LMF1 2 1 0 3
LOC106029312, NCF1 1 2 0 3
LRIG2 0 3 0 3
LRP5 0 3 0 3
M1AP 1 2 0 3
MAN2B1 1 2 0 3
MAN2C1 1 2 0 3
MCCC1 0 3 0 3
MFN2 1 2 0 3
MMACHC 2 1 0 3
MME 1 2 0 3
MMP20 0 3 0 3
MOCOS 0 3 0 3
MPDZ 0 3 0 3
MPZL2 0 3 0 3
MSH5, MSH5-SAPCD1 1 2 0 3
MTFMT 1 2 0 3
MTHFR 1 2 0 3
MYH3 1 2 0 3
MYO3A 2 1 0 3
NARS1 0 3 0 3
NBAS 1 2 0 3
NCAPD2 0 3 0 3
NCAPD3 0 3 0 3
NDUFS1 2 1 0 3
NDUFV1 1 2 0 3
OTOG 1 2 0 3
P3H2 1 2 0 3
PEX6 1 2 0 3
PHKB 0 3 0 3
PIGL 1 2 0 3
PNPLA6 2 1 0 3
POMT1 1 2 0 3
PRG4 1 2 0 3
PRKN 3 0 0 3
QRICH2 0 3 0 3
RAD50 1 2 0 3
RAG1 2 1 0 3
RECQL 0 3 0 3
REEP6 3 0 0 3
RPGRIP1 2 1 0 3
SAG 1 2 0 3
SCNN1A 1 2 0 3
SDHA 2 1 0 3
SGCA 2 1 0 3
SKIC3 0 3 0 3
SLC34A1 1 2 0 3
SLC52A2 0 3 0 3
SLC5A2 2 1 0 3
SLC7A9 0 3 0 3
SNORD118, TMEM107 0 3 0 3
SPG11 1 2 0 3
SPTA1 1 2 0 3
SRD5A2 1 2 0 3
SVIL 0 3 0 3
TEX14 0 3 0 3
TMEM260 0 3 0 3
TMPRSS3 1 2 0 3
TNFRSF13B 2 1 0 3
TSEN54 1 2 0 3
TTN 0 3 0 3
UPB1 2 1 0 3
VARS2 1 2 0 3
WASHC4 0 3 0 3
WDR62 1 2 0 3
WDR81 2 1 0 3
WFS1 2 1 0 3
WWOX 1 2 0 3
XDH 1 2 0 3
AARS2 1 1 0 2
AASS 1 1 0 2
ABCA3 1 1 0 2
ABCB4 1 1 0 2
ABCD4 0 2 0 2
ACAD8 0 2 0 2
ACAD9 0 2 0 2
ACADM 2 0 0 2
ACOX2 1 1 0 2
ADAMTS17 0 2 0 2
ADAMTS19 1 1 0 2
ADAMTSL4 0 2 0 2
AGK 1 1 0 2
AGL 1 1 0 2
AGPAT2 1 1 0 2
ALDH3A2 2 0 0 2
ALDH7A1 1 1 0 2
ALG2 0 2 0 2
ALOX12B 2 0 0 2
ALPK3 0 2 0 2
AMPD3 0 2 0 2
ANO6 0 2 0 2
ANTXR2 1 1 0 2
AP4S1 1 1 0 2
APRT 0 2 0 2
ARHGEF18 0 2 0 2
ARL13B 0 2 0 2
ASPA, SPATA22 0 2 0 2
ASPH 0 2 0 2
ATM, C11orf65 0 2 0 2
ATP2A1 0 2 0 2
ATP6V1B1 1 1 0 2
ATPAF2 0 2 0 2
AURKC 1 1 0 2
AVIL 0 2 0 2
B3GALT6 1 1 0 2
C14orf39 0 2 0 2
CABP4 1 1 0 2
CACNA1B 0 2 0 2
CAPNS1 0 2 0 2
CDAN1 0 2 0 2
CDH23 1 1 0 2
CDHR1 1 1 0 2
CENPF 0 2 0 2
CEP112 0 2 0 2
CEP135 0 2 0 2
CEP152 1 1 0 2
CFAP44, SPICE1-CFAP44 1 1 0 2
CFAP45 1 1 0 2
CFAP54 0 2 0 2
CFAP57, LOC105378685 1 1 0 2
CFAP91 0 2 0 2
CFI 1 1 0 2
CHRND 1 1 0 2
CHST6 0 2 0 2
CIDEC 0 2 0 2
CLPB 0 2 0 2
COL27A1 0 2 0 2
COL4A3, MFF-DT 1 1 0 2
COQ8A 0 2 0 2
COX10 0 2 0 2
CPAMD8 0 2 0 2
CPOX 0 2 0 2
CRYBB3 0 2 0 2
CSPP1 0 2 0 2
CTNS 2 0 0 2
CWC27 1 1 0 2
CYGB, PRCD 2 0 0 2
CYP11B2, LOC106799834 0 2 0 2
CYP19A1, MIR4713HG, PIRC66 0 2 0 2
CYP26C1 0 2 0 2
D2HGDH 1 1 0 2
DAW1 0 2 0 2
DDX11 1 1 0 2
DLL3 0 2 0 2
DNAH11 1 1 0 2
DNAJB2 0 2 0 2
DOK7 2 0 0 2
DSC3 0 2 0 2
DZIP1 0 2 0 2
ECM1 0 2 0 2
EDN3 0 2 0 2
EIF2AK4 1 1 0 2
EOGT 1 1 0 2
EPS8L2 1 1 0 2
ERCC6L2 1 1 0 2
ESPN 0 2 0 2
ESRRB 0 1 1 2
ETFDH 2 0 0 2
EXPH5 1 1 0 2
F12 1 1 0 2
FAM20A, PRKAR1A 2 0 0 2
FANCA 0 2 0 2
FARS2 1 1 0 2
FECH 1 1 0 2
FGF5 0 2 0 2
FGFR3 1 1 0 2
FMO3 0 2 0 2
FMO3, LOC126805916 2 0 0 2
FRAS1 1 1 0 2
FTL 1 1 0 2
GALT 1 1 0 2
GBA2 0 2 0 2
GGCX 1 1 0 2
GLRB 2 0 0 2
GNE 1 1 0 2
GP6 1 1 0 2
GPR179 1 1 0 2
GPSM2 1 1 0 2
GRM6 1 1 0 2
GRM6, ZNF454 1 1 0 2
GSR, LOC130000170 0 2 0 2
GUCY2D 1 1 0 2
H6PD 0 2 0 2
HEPHL1 0 2 0 2
HK1 0 2 0 2
HKDC1 0 2 0 2
HPGD 1 1 0 2
HPS6 2 0 0 2
HPSE2 1 1 0 2
IARS2 0 2 0 2
IFT122 0 2 0 2
IFT140 0 2 0 2
IGHMBP2 0 2 0 2
IL10RA 0 2 0 2
IL37 0 2 0 2
IMPG1 0 2 0 2
INPP5E 0 2 0 2
ITGB3 0 2 0 2
ITPR1 0 2 0 2
IVD 1 1 0 2
IYD 1 1 0 2
KASH5 0 2 0 2
KCNJ11 0 2 0 2
KIAA0753 0 2 0 2
KIF7 0 2 0 2
KISS1R 0 2 0 2
KIZ, LOC130065507 1 1 0 2
KYNU 0 2 0 2
L2HGDH 1 1 0 2
LAMA1 0 2 0 2
LAMB3 1 1 0 2
LETM1 0 2 0 2
LIPE, LOC101930071 1 1 0 2
LMAN1 1 1 0 2
LMNA 0 2 0 2
LMOD3 1 1 0 2
LOC126859690, PKHD1 1 1 0 2
LOC126862088, TRPM1 0 2 0 2
LPL 0 2 0 2
LRBA 0 2 0 2
LRP4 0 2 0 2
LRRC56 0 2 0 2
MAN2B2 0 2 0 2
MARVELD2 1 1 0 2
MC4R 0 2 0 2
MCPH1 0 2 0 2
MERTK 0 2 0 2
MFSD8 2 0 0 2
MKS1 1 1 0 2
MNS1, TEX9 1 1 0 2
MOS 0 2 0 2
MOV10L1 0 2 0 2
MPDU1 0 2 0 2
MPO 0 2 0 2
MRE11 2 0 0 2
MSH4 0 2 0 2
MTMR2 1 1 0 2
MYH2, MYHAS 0 2 0 2
MYO18B 0 2 0 2
MYO1H 0 2 0 2
NADSYN1 1 1 0 2
NAGS 1 1 0 2
NCF2 2 0 0 2
NDE1 0 2 0 2
NDUFA6 0 2 0 2
NEB, RIF1 2 0 0 2
NEK10 0 2 0 2
NEK8 0 2 0 2
NGLY1 1 1 0 2
NME8 0 2 0 2
NRL, PCK2 0 2 0 2
ODAD2 2 0 0 2
ODAD4 0 2 0 2
PCCA 2 0 0 2
PCK1 0 2 0 2
PCYT1A 0 2 0 2
PEX12 0 2 0 2
PGAP2 0 2 0 2
PGAP3 0 2 0 2
PIBF1 0 2 0 2
PIEZO1 0 2 0 2
PIGG 0 2 0 2
PKD1L1 0 2 0 2
PKLR 1 1 0 2
PLCD1 0 2 0 2
PMFBP1 0 2 0 2
PNKP 1 1 0 2
POLR3A 1 1 0 2
POLRMT 0 2 0 2
POMT2 1 1 0 2
POR 1 1 0 2
PPT1 0 2 0 2
PRORP, PRORP-PSMA6 0 2 0 2
PRSS12 0 2 0 2
PSAT1 0 2 0 2
PTCD3 0 2 0 2
PYGL 0 2 0 2
RINT1 0 2 0 2
RLBP1 1 1 0 2
ROBO1 0 2 0 2
ROM1 0 2 0 2
RPE65 1 1 0 2
SBDS 2 0 0 2
SELENON 1 1 0 2
SETX 2 0 0 2
SH3TC2 1 1 0 2
SLC10A2 1 1 0 2
SLC25A15 1 1 0 2
SLC26A2 1 1 0 2
SLC2A9 0 2 0 2
SLC34A3 2 0 0 2
SLC4A11 0 2 0 2
SLF2 0 2 0 2
SLX4 0 2 0 2
SOHLH1 0 2 0 2
SORD 1 1 0 2
SPTBN2 0 2 0 2
SQSTM1 0 2 0 2
SRD5A3 1 1 0 2
STRC 1 1 0 2
SUMF1 1 1 0 2
SYCP2L 0 2 0 2
SYNE1 0 2 0 2
TARS2 0 2 0 2
TBCK 0 2 0 2
TBXAS1 0 2 0 2
TDRD9 0 2 0 2
TFR2 0 2 0 2
TGDS 1 1 0 2
TMC1 0 2 0 2
TMEM126B 2 0 0 2
TMPRSS15 1 1 0 2
TOE1 0 2 0 2
TOGARAM1 0 2 0 2
TOR1A 0 2 0 2
TRHR 0 2 0 2
TRIP11 0 2 0 2
TRMT10A 0 2 0 2
TRMU 1 1 0 2
TSPEAR 0 2 0 2
TTC21A 0 2 0 2
TTC7A 0 2 0 2
TUBB8 0 2 0 2
TUBGCP6 0 2 0 2
TWNK 0 2 0 2
TYRP1 1 1 0 2
VPS13A 0 2 0 2
VPS41 0 2 0 2
VWA1 0 2 0 2
WDR35 0 2 0 2
XPA 2 0 0 2
ZMYND15 0 2 0 2
ZNF335 0 2 0 2
ZNF469 0 2 0 2
ZP1 1 1 0 2
AAAS 1 0 0 1
ABCA1 0 1 0 1
ABCA1, NIPSNAP3B 0 1 0 1
ABCA2 0 1 0 1
ABCA4, LOC126805793 0 1 0 1
ABCA4, LOC126805794 0 1 0 1
ABCB11 0 1 0 1
ABCB4, LOC129998756 0 1 0 1
ABCC2, LOC108281165 0 1 0 1
ABCD1 0 1 0 1
ABHD16A 0 1 0 1
ACD 0 1 0 1
ACP4 0 1 0 1
ACSF3, LOC125177393 1 0 0 1
ACTL7A 0 1 0 1
ADA 0 1 0 1
ADA, LOC107303343 0 1 0 1
ADAMTS13 0 1 0 1
ADAMTS18 0 1 0 1
ADAR 1 0 0 1
ADAT3, SCAMP4 1 0 0 1
ADCY1 0 1 0 1
ADGRG6 0 1 0 1
ADK 0 1 0 1
ADSL 0 1 0 1
ADSS1 0 1 0 1
AFG2B 1 0 0 1
AFG3L2 0 1 0 1
AGBL5 0 1 0 1
AGRN 0 1 0 1
AGTPBP1, LOC130001960 0 1 0 1
AHSG 0 1 0 1
AICDA 0 1 0 1
AIPL1 0 1 0 1
AK7 0 1 0 1
AKAP3 0 1 0 1
AKAP3, LOC120807612 0 1 0 1
AKR1C2 0 1 0 1
AKR1D1 0 1 0 1
ALDH18A1 1 0 0 1
ALDH4A1 0 1 0 1
ALDH6A1, BBOF1 0 1 0 1
ALDOA, LOC112694756 0 1 0 1
ALG8 0 1 0 1
ALG9 0 1 0 1
ALMS1 0 1 0 1
AMH 0 1 0 1
AMN 0 1 0 1
AMN, LOC130056554 1 0 0 1
AMPD2 0 1 0 1
AMT 0 1 0 1
ANKLE2 0 1 0 1
ANO10 0 1 0 1
ANOS1 0 1 0 1
AOPEP 0 1 0 1
AP4E1 1 0 0 1
APOE 0 1 0 1
AR 0 1 0 1
ARFGEF2 0 1 0 1
ARHGEF2 0 1 0 1
ARID1B 0 1 0 1
ARMC2 0 1 0 1
ARMC9 0 1 0 1
ARMC9, LOC122861306 0 1 0 1
ARNT2 0 1 0 1
ARSK 0 1 0 1
ASTN2, TRIM32 0 1 0 1
ATM 0 1 0 1
ATP1A2 0 0 1 1
ATP5MK 0 1 0 1
ATP6V0A1 0 1 0 1
ATP6V0A2 1 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 1
AUH 0 1 0 1
AVIL, TSFM 0 1 0 1
B3GALNT2 1 0 0 1
B4GAT1 0 1 0 1
BBS1, ZDHHC24 1 0 0 1
BBS10 1 0 0 1
BBS12 0 1 0 1
BBS2 1 0 0 1
BBS7 1 0 0 1
BCAT2 0 1 0 1
BCKDHB 0 1 0 1
BCS1L 0 1 0 1
BDP1 0 1 0 1
BEST1 0 1 0 1
BET1 0 1 0 1
BLM 1 0 0 1
BLNK 1 0 0 1
BLOC1S1-RDH5, CD63, RDH5 0 1 0 1
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 0 1 0 1
BLOC1S6 0 1 0 1
BLVRA 0 1 0 1
BMP1 0 0 1 1
BORCS8, BORCS8-MEF2B 0 1 0 1
BRAT1 1 0 0 1
BRDT 0 1 0 1
BRWD1 0 1 0 1
BUB1B 0 1 0 1
C12orf57 1 0 0 1
C17orf107, CHRNE 0 1 0 1
C17orf47, SEPTIN4 0 1 0 1
C3orf52 1 0 0 1
CA12 0 1 0 1
CABP2 0 1 0 1
CACNA1D 0 1 0 1
CACNA2D4 0 1 0 1
CANT1 1 0 0 1
CARD10 0 1 0 1
CARD11 0 1 0 1
CARS1, LOC126861115 0 1 0 1
CASP8 0 1 0 1
CAST 0 1 0 1
CAT 0 1 0 1
CATIP 0 1 0 1
CBLB 0 1 0 1
CC2D1A 0 1 0 1
CCBE1 0 1 0 1
CCDC34 0 1 0 1
CCDC39 1 0 0 1
CCDC62 0 1 0 1
CCDC88C 0 1 0 1
CCDST, FLG2 0 1 0 1
CCN6 0 1 0 1
CCNO 0 1 0 1
CCR2 0 1 0 1
CD2AP 0 1 0 1
CD3D 1 0 0 1
CD3G 0 1 0 1
CD3G, LOC126861358 1 0 0 1
CDC20 0 1 0 1
CDC45 0 1 0 1
CDK10 1 0 0 1
CDT1 0 1 0 1
CEP120 0 1 0 1
CEP41 0 1 0 1
CEP63, KY 0 1 0 1
CERS1, GDF1 1 0 0 1
CFAP298, CFAP298-TCP10L 1 0 0 1
CFAP300 1 0 0 1
CFAP65 0 1 0 1
CFAP96, UFSP2 1 0 0 1
CFTR, LOC111674475 1 0 0 1
CHAT 0 1 0 1
CHAT, SLC18A3 0 1 0 1
CHRNE, LOC130060040 1 0 0 1
CIAO1 0 1 0 1
CIBAR1 1 0 0 1
CILK1 0 1 0 1
CIROZ 0 1 0 1
CKAP2L 0 1 0 1
CLCN2 1 0 0 1
CLCN7 0 1 0 1
CLCNKB, LOC106501713 0 1 0 1
CLMP 0 1 0 1
CLN6 0 1 0 1
CLRN1 0 1 0 1
CMPK2, LOC129933018 0 1 0 1
CNGA1, LOC101927157 0 1 0 1
CNGB3 0 1 0 1
CNTNAP1 1 0 0 1
COA3 0 1 0 1
COASY 1 0 0 1
COG4 0 1 0 1
COG7 1 0 0 1
COL11A1 0 1 0 1
COL11A2 1 0 0 1
COL13A1 0 1 0 1
COL17A1 0 1 0 1
COL18A1, SLC19A1 1 0 0 1
COL1A2 0 1 0 1
COL25A1 0 1 0 1
COL4A6 0 1 0 1
COL6A1 1 0 0 1
COL6A2 1 0 0 1
COL6A3 0 1 0 1
COL9A1 0 1 0 1
COL9A2 1 0 0 1
COQ2 0 1 0 1
COQ4 0 1 0 1
COQ6, ENTPD5 0 1 0 1
COQ7 0 1 0 1
COX15 0 1 0 1
COX16, SYNJ2BP-COX16 0 1 0 1
COX20 1 0 0 1
COX6A1 1 0 0 1
CPAP 0 1 0 1
CPN1 0 1 0 1
CR2 0 1 0 1
CR2, LOC126805994 0 1 0 1
CRAT 0 1 0 1
CREB3, GBA2 0 1 0 1
CRIPT 0 1 0 1
CRYAB 0 1 0 1
CSF2RA 0 1 0 1
CSGALNACT1 0 1 0 1
CST6 0 1 0 1
CTH 0 1 0 1
CTSC 0 1 0 1
CTSK 1 0 0 1
CUL7 1 0 0 1
CYB5R3 0 1 0 1
CYBB 0 1 0 1
CYBC1 0 1 0 1
CYP11A1 0 1 0 1
CYP11B1 0 1 0 1
CYP17A1 0 1 0 1
CYP1B1, LOC128772254 1 0 0 1
CYP27A1 0 1 0 1
CYP4V2 0 1 0 1
DAAM2 0 1 0 1
DALRD3 0 1 0 1
DARS1 0 1 0 1
DBNL, LOC129998343, PGAM2 1 0 0 1
DCLRE1C 0 1 0 1
DCPS, GSEC 0 1 0 1
DDC 0 1 0 1
DDHD2 0 1 0 1
DEPDC5 0 1 0 1
DGUOK, LOC129934096 1 0 0 1
DHODH 0 1 0 1
DHX37 0 1 0 1
DIAPH1 1 0 0 1
DLD 1 0 0 1
DLL3, LOC130064417 1 0 0 1
DMP1 1 0 0 1
DMXL2 0 1 0 1
DNA2 0 1 0 1
DNAAF19 1 0 0 1
DNAAF3 0 1 0 1
DNAH8, LOC126859667 0 1 0 1
DNAI1 0 1 0 1
DNAJC9, MRPS16 0 1 0 1
DNALI1 0 1 0 1
DNM2 0 1 0 1
DOCK3 0 1 0 1
DOHH 1 0 0 1
DOK1, LOXL3 0 1 0 1
DONSON 0 1 0 1
DPAGT1 0 1 0 1
DPAGT1, LOC126861360 0 1 0 1
DPH5 0 1 0 1
DPYS 1 0 0 1
DSG1 0 1 0 1
DSTYK 1 0 0 1
DUOXA2 0 1 0 1
DYM 1 0 0 1
DYNC2I1 0 1 0 1
DYNLT2B, TM4SF19-DYNLT2B 0 1 0 1
DYSF 0 1 0 1
EARS2 0 1 0 1
EEFSEC 0 1 0 1
EGF 0 1 0 1
EIF2AK3 1 0 0 1
EIF2B1, LOC126861664 0 1 0 1
EIF2B2 1 0 0 1
EIF2B4 0 1 0 1
EIF2B4, GTF3C2 0 1 0 1
EIF2B5 0 1 0 1
EIF4A2, RFC4 1 0 0 1
ELAC2 0 1 0 1
ELP2 0 1 0 1
EMILIN1 0 1 0 1
ENAM 1 0 0 1
ENPP1 1 0 0 1
EPRS1 0 1 0 1
ERBB3 0 1 0 1
ERCC1 1 0 0 1
ERCC3 0 1 0 1
ERCC4 0 1 0 1
ERI1 0 1 0 1
ESRP1 0 1 0 1
ETFB 0 1 0 1
EVC, LOC129992144 0 1 0 1
EXOC6B 0 1 0 1
EXOSC2, LOC130002815 0 1 0 1
EXOSC8 0 1 0 1
EXOSC9 0 1 0 1
F10 1 0 0 1
F2 1 0 0 1
F5 0 1 0 1
FA2H, LOC130059394 1 0 0 1
FAH 1 0 0 1
FAM149B1 0 1 0 1
FAN1 1 0 0 1
FANCA, ZNF276 1 0 0 1
FANCC 1 0 0 1
FANCD2, LOC107303338, VHL 1 0 0 1
FANCE 1 0 0 1
FARSB 0 1 0 1
FASTKD2 0 1 0 1
FBXL4 1 0 0 1
FCGR2B 0 0 1 1
FDXR 0 1 0 1
FGB 0 1 0 1
FGG 0 1 0 1
FICD 0 1 0 1
FIG4 1 0 0 1
FKBP14 0 1 0 1
FKTN 0 1 0 1
FLAD1 0 1 0 1
FLII 0 1 0 1
FMN2 0 1 0 1
FOLR1 0 1 0 1
FOXE3, LINC01389 1 0 0 1
FOXL2 0 1 0 1
FREM1 0 1 0 1
FRRS1L 1 0 0 1
FRY 0 0 1 1
FSHR 0 1 0 1
FUCA1 0 1 0 1
G6PC3 0 1 0 1
GALM 0 1 0 1
GALT, LOC130001683 0 1 0 1
GAMT 1 0 0 1
GAREM2, HADHA 1 0 0 1
GATB 0 1 0 1
GCGR 0 1 0 1
GCOM1, MYZAP 0 1 0 1
GCSH, LOC130059495 0 1 0 1
GDAP1 1 0 0 1
GFM2 0 1 0 1
GFPT1 0 1 0 1
GGPS1 0 1 0 1
GH-LCR, SCN4A 1 0 0 1
GHSR 0 1 0 1
GIMAP1-GIMAP5, GIMAP5 0 1 0 1
GJB6 0 1 0 1
GJC2 0 1 0 1
GLDN 0 1 0 1
GLE1 0 1 0 1
GLI1 0 1 0 1
GLRX5 0 1 0 1
GM2A 0 1 0 1
GNAT2 1 0 0 1
GNB5 1 0 0 1
GNPAT 0 1 0 1
GNPTG 0 1 0 1
GNRH1 0 0 1 1
GOLGA2 0 1 0 1
GON4L 0 1 0 1
GP1BA 0 1 0 1
GPAA1 0 1 0 1
GPD1 0 1 0 1
GPNMB 0 1 0 1
GPX4, LOC130062887 0 1 0 1
GRHPR 0 1 0 1
GRN 0 1 0 1
GRXCR2 0 1 0 1
GUCY1A1 0 1 0 1
GUCY2C 0 1 0 1
GUF1 0 1 0 1
GYG1 0 1 0 1
GYS1 0 1 0 1
HAAO 0 1 0 1
HAAO, LOC129933588 0 1 0 1
HADHA 0 1 0 1
HARS2 0 1 0 1
HBB, LOC107133510, LOC110006319 1 0 0 1
HEATR3 0 1 0 1
HESX1 0 1 0 1
HEXA 1 0 0 1
HGF 0 1 0 1
HIBCH 0 1 0 1
HJV 1 0 0 1
HKDC1, LOC101928994 0 1 0 1
HPS5 0 1 0 1
HR 1 0 0 1
HS6ST2 0 1 0 1
HSALR1, PIEZO1 0 1 0 1
HSD17B3, SLC35D2-HSD17B3 1 0 0 1
HTT 0 1 0 1
HYLS1, PUS3 0 1 0 1
IDUA 0 1 0 1
IFT140, LOC105371046 1 0 0 1
IFT172 0 1 0 1
IFT172, LOC126806173 0 1 0 1
IFT52 0 1 0 1
IFT57 0 1 0 1
IFT81 0 1 0 1
IGFALS 0 1 0 1
IKBKB 0 1 0 1
IL17RA 0 1 0 1
IL17RC 0 1 0 1
IL36RN 0 1 0 1
IL4I1, NUP62 0 1 0 1
ILDR1 1 0 0 1
IMPG2 0 1 0 1
INTS11 0 1 0 1
INTU 0 1 0 1
INVS 0 1 0 1
IQCE 1 0 0 1
IRF7 0 1 0 1
ITGA3 0 1 0 1
ITGA7 0 1 0 1
ITPA 1 0 0 1
JAG2 0 1 0 1
JAGN1 0 1 0 1
JAK3 0 1 0 1
JMJD8, STUB1 0 1 0 1
KARS1 0 1 0 1
KAT6A 0 1 0 1
KATNIP 1 0 0 1
KCNE1 0 1 0 1
KCNJ10 0 1 0 1
KCNJ16 0 1 0 1
KDM5C 0 1 0 1
KIAA1549 0 1 0 1
KIF15 0 1 0 1
KIF1A 0 1 0 1
KIF1C 0 1 0 1
KIF26A 0 1 0 1
KIRREL1, LOC126805884 0 1 0 1
KITLG 0 1 0 1
KIZ 0 1 0 1
KLK4 1 0 0 1
KLKB1 1 0 0 1
KNL1 0 1 0 1
KRT10, LOC126862559 0 1 0 1
KRT14 0 1 0 1
KRT74 0 1 0 1
LALTOP, LOC126806104, TPO 1 0 0 1
LAMA3 0 1 0 1
LAMB1 0 1 0 1
LARS1 0 1 0 1
LBR 1 0 0 1
LCT 0 1 0 1
LDHD 0 1 0 1
LDLR 1 0 0 1
LFNG 0 1 0 1
LGI1 0 1 0 1
LGI4 0 1 0 1
LHFPL5 0 1 0 1
LIPE 0 1 0 1
LIPH 0 1 0 1
LIPN 1 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 1
LMAN2L 0 1 0 1
LMBR1 0 1 0 1
LMBRD1 0 1 0 1
LOC101928525, MRPS2 0 1 0 1
LOC106694315, MPO 0 1 0 1
LOC106694316, MPO 1 0 0 1
LOC106780803, TNXB 0 1 0 1
LOC107303340, VHL 1 0 0 1
LOC110121427, LRMDA 1 0 0 1
LOC112272617, MAN2C1 0 1 0 1
LOC112529895, SCO1 0 1 0 1
LOC123038185, SLCO2A1 0 1 0 1
LOC123956210, SLC26A4 0 1 0 1
LOC125146368, LRRK1 0 1 0 1
LOC126653398, TSPEAR 1 0 0 1
LOC126806253, STAMBP 0 1 0 1
LOC126806608, WNT7A 0 1 0 1
LOC126807509, UQCRQ 1 0 0 1
LOC126859661, SCUBE3 0 1 0 1
LOC126859838, SYNE1 0 1 0 1
LOC126860199, TBXAS1 0 1 0 1
LOC126861318, MMP13 0 1 0 1
LOC126861615, PAH 1 0 0 1
LOC126862935, NLRP5 0 1 0 1
LOC126862983, MGME1 0 1 0 1
LOC126863145, TRIOBP 0 1 0 1
LOC127407129, RFX6 0 1 0 1
LOC128092249, PCNT 0 1 0 1
LOC129930446, MMACHC 0 1 0 1
LOC129930668, PGM1 1 0 0 1
LOC129931299, WARS2 0 1 0 1
LOC129933272, PTRHD1 1 0 0 1
LOC129934243, POLR1A 0 1 0 1
LOC129935364, MARS2 0 1 0 1
LOC129992120, LRPAP1 0 1 0 1
LOC129995124, NIPAL4 0 1 0 1
LOC130000832, SPAG1 0 1 0 1
LOC130001399, TONSL 0 1 0 1
LOC130005993, MRPL49 0 1 0 1
LOC130059818, SPG7 0 1 0 1
LOC130062794, TXNL4A 0 1 0 1
LOC130064074, NDUFA13 0 1 0 1
LOC130067862, SCO2, TYMP 1 0 0 1
LOC132089829, MYPN 0 1 0 1
LONP1 0 1 0 1
LOXL3 0 1 0 1
LPAR6, RB1 1 0 0 1
LPO, MPO 1 0 0 1
LRPPRC 0 1 0 1
LRRK1 0 1 0 1
LSS 0 1 0 1
LZTFL1 0 1 0 1
LZTR1 0 1 0 1
MAD1L1 0 1 0 1
MADD 0 1 0 1
MAF, WWOX 1 0 0 1
MAGT1 0 1 0 1
MAN2C1, NEIL1 0 1 0 1
MANBA 1 0 0 1
MAPKBP1 0 1 0 1
MARS1 0 1 0 1
MASP1 0 1 0 1
MASP2 0 1 0 1
MASP2, TARDBP 0 1 0 1
MATN3 0 1 0 1
MBTPS1 0 1 0 1
MCM4 0 1 0 1
MED11 0 1 0 1
MED23 0 1 0 1
MEI1 0 1 0 1
METTL23 1 0 0 1
MGAT2 0 1 0 1
MICU1 0 1 0 1
MIPEP 0 1 0 1
MIR6788, PIEZO2 0 1 0 1
MITF 1 0 0 1
MKKS 0 1 0 1
MLC1 1 0 0 1
MLPH 0 1 0 1
MMP21 0 1 0 1
MMP9 0 1 0 1
MOCS1 1 0 0 1
MPZ 0 1 0 1
MRPL44 0 1 0 1
MSH3 0 1 0 1
MTPAP 0 1 0 1
MUSK 1 0 0 1
MVK 1 0 0 1
MYBPC1 0 1 0 1
MYEF2, SLC24A5 1 0 0 1
MYH11, NDE1 0 1 0 1
MYH8, MYHAS 0 1 0 1
MYL3 0 1 0 1
MYMX 0 1 0 1
MYORG 0 1 0 1
NAGA 1 0 0 1
NAGLU 0 1 0 1
NAXE 0 1 0 1
NCAPH2, SCO2 0 1 0 1
NCF4 1 0 0 1
NCR1, NLRP7 0 1 0 1
NDUFA12 1 0 0 1
NDUFA13 0 1 0 1
NDUFA9 0 1 0 1
NDUFAF5 0 1 0 1
NDUFAF6 0 1 0 1
NDUFC2, NDUFC2-KCTD14 0 1 0 1
NDUFS7 0 1 0 1
NDUFV2 0 1 0 1
NEB 0 1 0 1
NECTIN1 1 0 0 1
NEK1 0 1 0 1
NEXN 0 1 0 1
NF1 0 1 0 1
NFU1 1 0 0 1
NHLRC2 1 0 0 1
NIN 0 1 0 1
NKX6-2 0 1 0 1
NME5 0 1 0 1
NMNAT1 1 0 0 1
NNT 0 1 0 1
NPHP3, NPHP3-ACAD11 1 0 0 1
NPHP3-ACAD11, UBA5 1 0 0 1
NPHS1 1 0 0 1
NR0B2, NUDC 0 1 0 1
NR1H4 0 1 0 1
NRXN1 0 1 0 1
NSUN6 1 0 0 1
NUBPL 0 1 0 1
NUP107 0 1 0 1
NUP210L 0 1 0 1
NUP88 0 1 0 1
NUP93 0 1 0 1
ODAD1 0 1 0 1
ODAD3 0 1 0 1
OPHN1 0 1 0 1
OPTN 0 1 0 1
ORC6 0 1 0 1
OSGEP 0 1 0 1
OTOF 0 1 0 1
P3H1 0 1 0 1
PACRG, PRKN 1 0 0 1
PAICS 0 1 0 1
PALB2 0 1 0 1
PAPPA2 0 1 0 1
PATL2 0 1 0 1
PCARE 1 0 0 1
PCCB 0 1 0 1
PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4 0 1 0 1
PCNT 0 1 0 1
PDE10A 0 1 0 1
PDE6A 1 0 0 1
PDE6B 0 1 0 1
PDHA2 0 1 0 1
PDSS1 0 1 0 1
PDSS2 0 1 0 1
PDX1 0 1 0 1
PDZD7 0 1 0 1
PEX1 0 1 0 1
PEX13 0 1 0 1
PEX7 1 0 0 1
PGM2L1 0 1 0 1
PGM3 0 1 0 1
PHGDH 0 1 0 1
PHKG2 1 0 0 1
PHYH 1 0 0 1
PI4KA 0 1 0 1
PIDD1 1 0 0 1
PIGM 0 1 0 1
PIGQ 1 0 0 1
PIGV 0 1 0 1
PIK3C2G, PLCZ1 0 1 0 1
PISD 0 1 0 1
PITRM1 0 1 0 1
PKD2 0 1 0 1
PKP2 1 0 0 1
PLAAT3 0 1 0 1
PLEKHG2 0 1 0 1
PLEKHG5 0 1 0 1
PLG 1 0 0 1
PLOD2 0 1 0 1
PLOD3 0 1 0 1
PMM2 1 0 0 1
PMP22 1 0 0 1
PNLDC1 0 1 0 1
PNPLA1 0 1 0 1
PNPT1 0 1 0 1
POC1B, POC1B-DUSP6 0 1 0 1
POLD3 0 1 0 1
POLE 0 1 0 1
POLH 0 1 0 1
POLR1A 0 1 0 1
POLR3B 0 1 0 1
POMK 0 1 0 1
POP1 0 1 0 1
PPIP5K2 0 1 0 1
PPOX 0 1 0 1
PPP1R13L 0 1 0 1
PRDM13 0 1 0 1
PRDX3 0 1 0 1
PRKCD 0 1 0 1
PRMT7 0 1 0 1
PRODH 0 1 0 1
PROS1 1 0 0 1
PRPH2 0 1 0 1
PRX 0 1 0 1
PSMB10 0 1 0 1
PSMC3IP 0 1 0 1
PTH 0 1 0 1
PTPRF 0 1 0 1
PTPRQ 1 0 0 1
PTS 0 1 0 1
QARS1 1 0 0 1
RARS1 0 1 0 1
RBL2 0 1 0 1
RCBTB1 0 1 0 1
RDH8 0 1 0 1
RDX 0 1 0 1
RFT1 1 0 0 1
RFXANK 1 0 0 1
RGS9 0 1 0 1
RGS9BP 0 1 0 1
RIPK4 0 0 1 1
RMND1 0 1 0 1
RNASEH1 1 0 0 1
RNASEH2B 1 0 0 1
RNASEH2C 1 0 0 1
RNASET2 0 1 0 1
RNF212 1 0 0 1
RNPC3 0 1 0 1
ROBO3 0 1 0 1
RPGRIP1L 1 0 0 1
RPL3L 0 1 0 1
RRM2B 0 1 0 1
RSPH1 0 1 0 1
RSPH4A 1 0 0 1
RSPH9 1 0 0 1
RTN2 0 1 0 1
RTTN 0 1 0 1
RUSF1, SLC5A2 0 1 0 1
RYR1 0 1 0 1
RYR3 0 1 0 1
SACS 1 0 0 1
SAMD9 0 1 0 1
SASS6 0 1 0 1
SBF1 0 1 0 1
SCAPER 0 1 0 1
SCARF2 0 1 0 1
SCN4A 0 1 0 1
SCYL1 1 0 0 1
SDR9C7 0 1 0 1
SECISBP2 0 1 0 1
SEPSECS 1 0 0 1
SERPINA6 0 1 0 1
SERPINB7 0 1 0 1
SERPINB8 0 1 0 1
SFXN4 0 1 0 1
SGCB 0 1 0 1
SGCG 1 0 0 1
SGSH 0 1 0 1
SHROOM4 0 0 1 1
SLC12A1 1 0 0 1
SLC13A3 0 1 0 1
SLC16A1 1 0 0 1
SLC17A5 0 1 0 1
SLC24A1 1 0 0 1
SLC25A20 1 0 0 1
SLC25A26 0 1 0 1
SLC26A3 1 0 0 1
SLC29A3 1 0 0 1
SLC2A10 1 0 0 1
SLC30A7 0 1 0 1
SLC37A4 1 0 0 1
SLC52A3 0 1 0 1
SLC5A5 0 1 0 1
SLC5A6 0 1 0 1
SLC6A19 0 1 0 1
SMC5 0 1 0 1
SMG9 0 1 0 1
SMPD4 0 1 0 1
SNAP29 0 1 0 1
SOST 1 0 0 1
SPATA22 0 1 0 1
SPATA7 0 1 0 1
SPRED2 0 1 0 1
SPTB 0 1 0 1
SRPK3 0 1 0 1
SRY 0 0 1 1
STAC3 0 1 0 1
STAG3 0 1 0 1
STAMBP 0 1 0 1
STAR 0 1 0 1
STK4 1 0 0 1
STN1 0 1 0 1
STUB1 1 0 0 1
SUN5 0 1 0 1
SUOX 0 1 0 1
SYCE1 0 1 0 1
SYNE4 1 0 0 1
TACO1 1 0 0 1
TANGO2 1 0 0 1
TAPBP 0 1 0 1
TARS1 0 1 0 1
TBC1D8B 0 1 0 1
TBCEL-TECTA, TECTA 1 0 0 1
TBX4 1 0 0 1
TCTN2 0 1 0 1
TDP1 0 1 0 1
TDRD7 0 1 0 1
TEKT3 0 1 0 1
TELO2 0 1 0 1
TENM3 0 1 0 1
TERT 1 0 0 1
TGM1 1 0 0 1
THG1L 0 1 0 1
TIAM1 0 1 0 1
TK2 0 1 0 1
TKFC 0 1 0 1
TLE6 0 1 0 1
TMEM165 0 1 0 1
TMEM67 0 1 0 1
TMEM70 1 0 0 1
TMEM94 0 1 0 1
TMLHE 0 1 0 1
TNFRSF11B 0 1 0 1
TNXB 0 1 0 1
TP53RK 0 1 0 1
TPK1 0 1 0 1
TPO 0 1 0 1
TPP1 1 0 0 1
TRAK1 0 1 0 1
TRAPPC12 0 1 0 1
TRIT1 0 1 0 1
TRPV6 0 1 0 1
TSFM 0 1 0 1
TSPOAP1 0 1 0 1
TTC21B 0 1 0 1
TTC29 1 0 0 1
TTI1 0 1 0 1
TTI2 0 1 0 1
TTLL5 0 1 0 1
TTPA 1 0 0 1
TULP3 0 1 0 1
TYROBP 0 1 0 1
UBA5 0 1 0 1
UGGT1 0 1 0 1
UNC13D 0 1 0 1
UNC45A 0 1 0 1
UNC45B 0 1 0 1
UROC1 0 1 0 1
UROD 0 1 0 1
USP53 0 1 0 1
VARS1 0 1 0 1
VPS13C 0 1 0 1
VPS53 0 1 0 1
VSX2 1 0 0 1
WARS1 0 1 0 1
WASHC5 0 1 0 1
WBP4 0 1 0 1
WDPCP 1 0 0 1
WDR11 0 1 0 1
WHRN 0 1 0 1
WNK1 0 1 0 1
WNT10A 1 0 0 1
WNT10B 0 1 0 1
WRN 1 0 0 1
XRCC1 0 1 0 1
XRCC4 1 0 0 1
YARS1 0 1 0 1
ZFYVE19 0 1 0 1
ZMYND10 1 0 0 1
ZNF142 1 0 0 1
ZNHIT3 0 1 0 1
ZP2 0 1 0 1

Condition and significance breakdown #

Total conditions: 1280
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 15 9 0 24
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 16 6 0 22
Autosomal recessive nonsyndromic hearing loss 124 1 15 0 16
Beta-thalassemia HBB/LCRB 11 2 0 13
Usher syndrome type 2A; Retinitis pigmentosa 39 4 7 0 11
Wilson disease 5 6 0 11
Autosomal recessive nonsyndromic hearing loss 1A 8 2 0 10
Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 1 9 0 10
Familial hypokalemia-hypomagnesemia 3 7 0 10
Autosomal recessive inherited pseudoxanthoma elasticum; Arterial calcification, generalized, of infancy, 2 5 4 0 9
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1F 1 8 0 9
Ciliary dyskinesia, primary, 50 0 9 0 9
Spinocerebellar ataxia, autosomal recessive 22 0 9 0 9
Autosomal recessive Alport syndrome 3 5 0 8
Familial Mediterranean fever 5 3 0 8
Joubert syndrome 3 4 4 0 8
Metachromatic leukodystrophy 6 2 0 8
Renal carnitine transport defect 4 4 0 8
Retinitis pigmentosa 25 3 5 0 8
Spermatogenic failure 65 1 7 0 8
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 1 6 0 7
Ciliary dyskinesia, primary, 40 2 5 0 7
Congenital stationary night blindness 1C 2 5 0 7
Cystinuria 3 4 0 7
Hereditary factor XI deficiency disease 1 6 0 7
Hereditary spastic paraplegia 7 4 3 0 7
Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 1 6 0 7
Mucopolysaccharidosis, MPS-IV-A 0 7 0 7
Polycystic kidney disease 4 2 5 0 7
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 2 5 0 7
Thyroid dyshormonogenesis 6 1 6 0 7
von Willebrand disease type 3; von Willebrand disease type 2 2 5 0 7
Achromatopsia 2 1 5 0 6
Argininosuccinate lyase deficiency 2 4 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2A 3 3 0 6
Autosomal recessive nonsyndromic hearing loss 3 4 2 0 6
Hypercholanemia, familial, 2 1 5 0 6
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 0 6 0 6
Niemann-Pick disease, type C1 1 5 0 6
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 6 0 0 6
Primary ciliary dyskinesia 3 4 2 0 6
Primary hyperoxaluria type 3 4 2 0 6
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa 2 4 0 6
Spermatogenic failure 25 0 6 0 6
Spermatogenic failure 45 0 6 0 6
Spermatogenic failure 46 1 5 0 6
Tyrosinase-positive oculocutaneous albinism 4 2 0 6
UV-sensitive syndrome 3 0 6 0 6
Very long chain acyl-CoA dehydrogenase deficiency 1 5 0 6
2-aminoadipic 2-oxoadipic aciduria 1 4 0 5
3M syndrome 2 0 5 0 5
Aminoacylase 1 deficiency 1 4 0 5
Asphyxiating thoracic dystrophy 3 3 2 0 5
Autosomal recessive nonsyndromic hearing loss 28 1 4 0 5
Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 0 4 1 5
Cataract 18 2 3 0 5
Cone dystrophy with supernormal rod response 2 3 0 5
Congenital disorder of deglycosylation 2 1 4 0 5
Congenital disorder of glycosylation with defective fucosylation 2 0 5 0 5
Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 0 5 0 5
Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 1 4 0 5
Dubin-Johnson syndrome 1 4 0 5
Glutaric aciduria, type 1 3 2 0 5
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 2 3 0 5
Leber congenital amaurosis 19 0 5 0 5
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 4 0 5
Myeloperoxidase deficiency 2 3 0 5
Niemann-Pick disease, type B; Niemann-Pick disease, type A 2 3 0 5
Phenylketonuria 3 2 0 5
Primary ciliary dyskinesia 13 0 5 0 5
Primary hyperoxaluria, type I 4 1 0 5
Retinitis pigmentosa 28 2 3 0 5
Retinitis pigmentosa 45 0 5 0 5
Spermatogenic failure 34 0 5 0 5
Spermatogenic failure 78 1 4 0 5
Sucrase-isomaltase deficiency 2 3 0 5
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 3 0 4
5-Oxoprolinase deficiency 1 3 0 4
Acral peeling skin syndrome 1 3 0 4
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 1 3 0 4
Adult polyglucosan body disease; Glycogen storage disease, type IV 0 4 0 4
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 4 0 0 4
Autosomal recessive congenital ichthyosis 4A; Autosomal recessive congenital ichthyosis 4B 1 3 0 4
Autosomal recessive juvenile Parkinson disease 2 4 0 0 4
Autosomal recessive nonsyndromic hearing loss 77 2 2 0 4
Autosomal recessive nonsyndromic hearing loss 84B 0 4 0 4
Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28 2 2 0 4
Biotinidase deficiency 2 2 0 4
Citrullinemia type I 3 1 0 4
Classic homocystinuria 4 0 0 4
Cobalamin C disease 2 2 0 4
Combined malonic and methylmalonic acidemia 1 3 0 4
Combined oxidative phosphorylation defect type 27 1 3 0 4
Congenital amegakaryocytic thrombocytopenia 1 1 3 0 4
Congenital factor VII deficiency 1 3 0 4
Congenital myotonia, autosomal recessive form 4 0 0 4
Congenital stationary night blindness 1B 2 2 0 4
Deficiency of 2-methylbutyryl-CoA dehydrogenase 3 1 0 4
Deficiency of steroid 11-beta-monooxygenase 1 3 0 4
Dihydropyrimidine dehydrogenase deficiency 1 3 0 4
Familial adenomatous polyposis 2 4 0 0 4
Familial renal glucosuria 2 2 0 4
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 3 1 0 4
Galactosylceramide beta-galactosidase deficiency 2 2 0 4
Gingival fibromatosis-hypertrichosis syndrome 1 3 0 4
Glaucoma 3A; Anterior segment dysgenesis 6 3 1 0 4
Glutaryl-CoA oxidase deficiency 2 2 0 4
Glycine encephalopathy 1 1 3 0 4
Glycogen storage disease, type V 0 4 0 4
Glycogen storage disorder due to hepatic glycogen synthase deficiency 2 2 0 4
Hereditary antithrombin deficiency 2 2 0 4
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 0 4 0 4
Hypogonadotropic hypogonadism 7 with or without anosmia 3 1 0 4
Hypothyroidism due to TSH receptor mutations 2 2 0 4
Immunodeficiency 95 1 3 0 4
Iodotyrosyl coupling defect 1 3 0 4
Isolated microphthalmia 5; Nanophthalmos 2 3 1 0 4
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 1 3 0 4
Leukoencephalopathy with calcifications and cysts 0 4 0 4
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 1 3 0 4
Methylcobalamin deficiency type cblE 1 3 0 4
Multiple congenital anomalies-hypotonia-seizures syndrome 1 2 2 0 4
Muscle AMP deaminase deficiency 0 4 0 4
Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 1 3 0 4
Neonatal intrahepatic cholestasis due to citrin deficiency; Citrullinemia, type II, adult-onset 2 2 0 4
Nephrotic syndrome, IIa 26; Bent bone dysplasia syndrome 2 0 4 0 4
Oculocutaneous albinism type 4 2 2 0 4
Orofaciodigital syndrome type 6; Joubert syndrome 17 2 2 0 4
Pontocerebellar hypoplasia type 6 1 3 0 4
Premature ovarian failure 9 0 4 0 4
Retinitis pigmentosa 12; Leber congenital amaurosis 8 1 3 0 4
Retinitis pigmentosa 37; ENHANCED S-CONE SYNDROME 1 1 3 0 4
Retinitis pigmentosa 88 0 4 0 4
Sneddon syndrome; Deficiency of adenosine deaminase 2 3 1 0 4
Spermatogenic failure 56 0 4 0 4
Trimethylaminuria 2 2 0 4
Usher syndrome type 2C 2 2 0 4
Warburg micro syndrome 1; Martsolf syndrome 2 1 3 0 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 2 0 3
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 1 2 0 3
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 3 0 3
AICA-ribosiduria 0 3 0 3
ALG3-congenital disorder of glycosylation 0 3 0 3
Alkaptonuria 0 2 1 3
Amelogenesis imperfecta hypomaturation type 2A2 0 3 0 3
Amelogenesis imperfecta type 1H 0 3 0 3
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 1 2 0 3
Ataxia-hypogonadism-choroidal dystrophy syndrome; Laurence-Moon syndrome; Hereditary spastic paraplegia 39; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 2 1 0 3
Ataxia-telangiectasia syndrome 0 3 0 3
Autosomal recessive DOPA responsive dystonia 1 2 0 3
Autosomal recessive ataxia, Beauce type; Arthrogryposis multiplex congenita 3, myogenic type 0 3 0 3
Autosomal recessive congenital ichthyosis 3 1 2 0 3
Autosomal recessive congenital ichthyosis 5 1 1 1 3
Autosomal recessive limb-girdle muscular dystrophy type 2D 2 1 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy 0 3 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 1 2 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 2 1 0 3
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 2 1 0 3
Autosomal recessive nonsyndromic hearing loss 18B 1 2 0 3
Autosomal recessive nonsyndromic hearing loss 30 2 1 0 3
Autosomal recessive nonsyndromic hearing loss 8 1 2 0 3
Autosomal recessive nonsyndromic hearing loss 98; Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis; Tooth agenesis, selective, 10 1 2 0 3
Bilateral frontoparietal polymicrogyria; Polymicrogyria, bilateral perisylvian, autosomal recessive 3 0 0 3
Brown-Vialetto-van Laere syndrome 2 0 3 0 3
CHIME syndrome 1 2 0 3
COG1 congenital disorder of glycosylation 0 3 0 3
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 1 2 0 3
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form 2 1 0 3
Cataract 13 with adult I phenotype 0 3 0 3
Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 1 2 0 3
Charcot-Marie-Tooth disease axonal type 2T 1 2 0 3
Combined immunodeficiency due to DOCK8 deficiency 0 3 0 3
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2 1 0 3
Combined oxidative phosphorylation defect type 15; Mitochondrial complex I deficiency, nuclear type 27 1 2 0 3
Combined oxidative phosphorylation defect type 20 1 2 0 3
Cone-rod dystrophy 13; Leber congenital amaurosis 6 2 1 0 3
Congenital generalized lipodystrophy type 2; Severe neurodegenerative syndrome with lipodystrophy 1 2 0 3
Contractures, pterygia, and variable skeletal fusions syndrome 1B 1 2 0 3
Craniosynostosis and dental anomalies 0 3 0 3
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 2 0 3
Deficiency of alpha-mannosidase 1 2 0 3
Deficiency of beta-ureidopropionase 2 1 0 3
Deficiency of butyryl-CoA dehydrogenase 1 2 0 3
Erythrokeratodermia variabilis et progressiva 5 1 2 0 3
Ethylmalonic encephalopathy 2 1 0 3
Exudative vitreoretinopathy 4; Osteoporosis with pseudoglioma 0 3 0 3
Fanconi anemia complementation group A 1 2 0 3
Fanconi anemia complementation group I 1 2 0 3
Fanconi anemia complementation group J 2 1 0 3
Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 1 2 0 3
Ghosal hematodiaphyseal dysplasia 0 3 0 3
Glutamate formiminotransferase deficiency 2 1 0 3
Glycogen storage disease IXb 0 3 0 3
Glycogen storage disease, type II 3 0 0 3
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 1 2 0 3
Hearing loss, autosomal recessive 111 0 3 0 3
Hemochromatosis type 1 2 1 0 3
Hereditary spastic paraplegia 46 0 3 0 3
Hereditary spastic paraplegia 47 1 2 0 3
Hereditary spastic paraplegia 48 1 2 0 3
Hereditary xanthinuria type 1 1 2 0 3
Holoprosencephaly 10 0 3 0 3
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 2 0 3
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 3 0 3
Hypercalcemia, infantile, 1 2 1 0 3
Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonatal 3 1 2 0 3
Hypotrichosis 6 0 3 0 3
Immunodeficiency due to ficolin3 deficiency 1 2 0 3
Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 2 1 0 3
Intellectual disability, autosomal recessive 43 0 3 0 3
Isolated cryptophthalmia; Fraser syndrome 2 0 3 0 3
LIPE-related familial partial lipodystrophy 1 2 0 3
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 1 2 0 3
Leber congenital amaurosis 13 3 0 0 3
Lipase deficiency, combined 2 1 0 3
Lipoic acid synthetase deficiency 1 2 0 3
Lymphatic malformation 6 0 3 0 3
Maple syrup urine disease type 1A 1 2 0 3
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 0 3 0 3
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 1 2 0 3
Microcephaly 21, primary, autosomal recessive 0 3 0 3
Microcephaly 22, primary, autosomal recessive 0 3 0 3
Microcephaly 3, primary, autosomal recessive 0 3 0 3
Microcephaly 5, primary, autosomal recessive 1 2 0 3
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 0 3 0 3
Mitochondrial complex I deficiency, nuclear type 4 1 2 0 3
Mitochondrial complex I deficiency, nuclear type 5 2 1 0 3
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG 2 1 0 3
Multiple acyl-CoA dehydrogenase deficiency 2 1 0 3
Multiple symmetric lipomatosis; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 1 2 0 3
Myofibrillar myopathy 10 0 3 0 3
Myopia, high, with cataract and vitreoretinal degeneration 0 3 0 3
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2 1 0 3
Nephrotic syndrome, type 21 0 3 0 3
Nephrotic syndrome, type 9 1 2 0 3
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 3 0 3
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 0 3 0 3
Neuronal ceroid lipofuscinosis 3 0 3 0 3
Nijmegen breakage syndrome-like disorder 1 2 0 3
Occipital pachygyria and polymicrogyria 1 2 0 3
Oguchi disease-2 1 2 0 3
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 1 2 0 3
Pontocerebellar hypoplasia type 1B 1 2 0 3
Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 5 1 2 0 3
Premature ovarian failure 13; Spermatogenic failure 74 1 2 0 3
Primary ciliary dyskinesia 19 1 2 0 3
Primary ciliary dyskinesia 5 0 3 0 3
Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 1 2 0 3
Propionic acidemia 2 1 0 3
Pseudohypoaldosteronism, type IB1, autosomal recessive 1 2 0 3
Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 1 2 0 3
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2 1 0 3
Renal tubular dysgenesis of genetic origin 1 1 1 3
Retinitis pigmentosa 26 0 3 0 3
Retinitis pigmentosa 47; Oguchi disease-1 1 2 0 3
Retinitis pigmentosa 69 1 2 0 3
Retinitis pigmentosa 77 3 0 0 3
Retinitis pigmentosa 92 0 3 0 3
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 1 2 0 3
Sandhoff disease 2 1 0 3
Seckel syndrome 6 0 3 0 3
Short stature-optic atrophy-Pelger-Huët anomaly syndrome; Infantile liver failure syndrome 2 1 2 0 3
Sitosterolemia 1 2 1 0 3
Smith-Lemli-Opitz syndrome 2 1 0 3
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 0 3 0 3
Spermatogenic failure 19 0 3 0 3
Spermatogenic failure 23 0 3 0 3
Spermatogenic failure 28; Premature ovarian failure 15 1 2 0 3
Spermatogenic failure 33 1 2 0 3
Spermatogenic failure 35 0 3 0 3
Spermatogenic failure 48 1 2 0 3
Spermatogenic failure 84 2 1 0 3
Spermatogenic failure 89 0 3 0 3
Spermatogenic failure 94 0 3 0 3
Spondylocostal dysostosis 1, autosomal recessive 1 2 0 3
Structural heart defects and renal anomalies syndrome 0 3 0 3
Trichohepatoenteric syndrome 1 0 3 0 3
Urofacial syndrome 2 0 3 0 3
Wolfram syndrome 1 2 1 0 3
Xanthinuria type II 0 3 0 3
3-methylglutaconic aciduria, type VIIB 0 2 0 2
ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 0 2 0 2
Achondrogenesis, type IA; Odontochondrodysplasia 1 0 2 0 2
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 1 1 0 2
Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 0 2 0 2
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 1 1 0 2
Acyl-CoA dehydrogenase 9 deficiency 0 2 0 2
Adams-Oliver syndrome 2 0 2 0 2
Adams-Oliver syndrome 4 1 1 0 2
Adenine phosphoribosyltransferase deficiency 0 2 0 2
Aicardi-Goutieres syndrome 1 2 0 0 2
Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 1 1 0 2
Alport syndrome 3b, autosomal recessive 1 1 0 2
Amelogenesis imperfecta type 1G 2 0 0 2
Anemia, congenital dyserythropoietic, type 1a 0 2 0 2
Anterior segment dysgenesis 8 0 2 0 2
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 1 1 0 2
Aromatase deficiency 0 2 0 2
Arthrogryposis multiplex congenita 5 0 2 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 2 0 2
Ataxia-telangiectasia-like disorder 1 2 0 0 2
Atelis syndrome 1 0 2 0 2
Autosomal recessive ataxia due to ubiquinone deficiency 0 2 0 2
Autosomal recessive congenital ichthyosis 2 2 0 0 2
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 0 2 0 2
Autosomal recessive hypophosphatemic bone disease 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D 1 1 0 2
Autosomal recessive nonsyndromic hearing loss 16 1 1 0 2
Autosomal recessive nonsyndromic hearing loss 35 0 1 1 2
Autosomal recessive nonsyndromic hearing loss 36; Usher syndrome, type 1M 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 49 1 1 0 2
Autosomal recessive nonsyndromic hearing loss 7 0 2 0 2
Autosomal recessive spinocerebellar ataxia 14 0 2 0 2
Autosomal recessive spinocerebellar ataxia 16 1 1 0 2
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 2 0 2
Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 1 1 0 2
Bietti crystalline corneoretinal dystrophy 0 2 0 2
Bile acid malabsorption, primary, 1 1 1 0 2
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Vitamin K-dependent clotting factors, combined deficiency of, type 1 1 1 0 2
Bothnia retinal dystrophy; Newfoundland cone-rod dystrophy; Pigmentary retinal dystrophy 1 1 0 2
Breast-ovarian cancer, familial, susceptibility to, 2 1 1 0 2
Brittle cornea syndrome 1 0 2 0 2
Brody myopathy 0 2 0 2
CIDEC-related familial partial lipodystrophy 0 2 0 2
Cardiac valvular dysplasia 2 1 1 0 2
Cardiomyopathy, familial hypertrophic 27 0 2 0 2
Cataract 22 multiple types 0 2 0 2
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 2 0 2
Catel-Manzke syndrome 1 1 0 2
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 0 2 0 2
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction 0 2 0 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies 1 1 0 2
Charcot-Marie-Tooth disease type 2B1; Mandibuloacral dysplasia with type A lipodystrophy; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 2 0 2
Charcot-Marie-Tooth disease type 2B2; Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 1 1 0 2
Charcot-Marie-Tooth disease type 4B1 1 1 0 2
Charcot-Marie-Tooth disease type 4C 1 1 0 2
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency 0 2 0 2
Chudley-McCullough syndrome 1 1 0 2
Ciliary dyskinesia, primary, 39 0 2 0 2
Ciliary dyskinesia, primary, 44 0 2 0 2
Ciliary dyskinesia, primary, 52 0 2 0 2
Combined immunodeficiency due to CD3gamma deficiency 1 1 0 2
Combined immunodeficiency due to LRBA deficiency 0 2 0 2
Combined oxidative phosphorylation defect type 14; Hereditary spastic paraplegia 77 1 1 0 2
Combined oxidative phosphorylation defect type 21 0 2 0 2
Combined oxidative phosphorylation defect type 8; Leukoencephalopathy, progressive, with ovarian failure 1 1 0 2
Combined oxidative phosphorylation deficiency 51 0 2 0 2
Combined oxidative phosphorylation deficiency 54 0 2 0 2
Combined oxidative phosphorylation deficiency 55 0 2 0 2
Cone-rod dystrophy 15 1 1 0 2
Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 1 1 0 2
Cone-rod dystrophy and hearing loss 1 0 2 0 2
Cone-rod synaptic disorder, congenital nonprogressive 1 1 0 2
Congenital afibrinogenemia 0 2 0 2
Congenital bile acid synthesis defect 6 1 1 0 2
Congenital disorder of deglycosylation 1 1 1 0 2
Congenital disorder of glycosylation type 1EE with or without immunodeficiency 0 2 0 2
Congenital generalized lipodystrophy type 1 1 1 0 2
Congenital myasthenic syndrome 10; Fetal akinesia deformation sequence 3 1 1 0 2
Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 1 1 0 2
Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B 1 1 0 2
Congenital stationary night blindness 1E 1 1 0 2
Corneal dystrophy-perceptive deafness syndrome; Congenital hereditary endothelial dystrophy of cornea 0 2 0 2
Corticosterone 18-monooxygenase deficiency; Corticosterone methyloxidase type 2 deficiency 0 2 0 2
Cortisone reductase deficiency 1 0 2 0 2
Cranioectodermal dysplasia 1 0 2 0 2
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 0 2 0 2
D-2-hydroxyglutaric aciduria 1 1 1 0 2
DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 0 2 0 2
Deficiency of iodide peroxidase 1 1 0 2
Deficiency of isobutyryl-CoA dehydrogenase 0 2 0 2
Dejerine-Sottas disease 1 1 0 2
Developmental and epileptic encephalopathy, 44; Spinocerebellar ataxia, autosomal recessive 24 1 1 0 2
Ectopia lentis et pupillae; Ectopia lentis 2, isolated, autosomal recessive 0 2 0 2
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 2 0 2
Eichsfeld type congenital muscular dystrophy 1 1 0 2
Enterokinase deficiency 1 1 0 2
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 1 1 0 2
Erythrocyte AMP deaminase deficiency 0 2 0 2
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 0 2 0 2
Factor I deficiency 1 1 0 2
Factor V and factor VIII, combined deficiency of, type 1 1 1 0 2
Factor XII deficiency disease 1 1 0 2
Familial hypobetalipoproteinemia 2 0 2 0 2
Familial pulmonary capillary hemangiomatosis 1 1 0 2
Fanconi anemia complementation group P 0 2 0 2
Female infertility due to zona pellucida defect 1 1 0 2
Focal facial dermal dysplasia type IV 0 2 0 2
Fraser syndrome 1 1 1 0 2
GNE myopathy; Thrombocytopenia 12 with or without myopathy 1 1 0 2
Gastrointestinal defects and immunodeficiency syndrome 1 0 2 0 2
Gillespie syndrome 0 2 0 2
Glanzmann thrombasthenia 2 0 2 0 2
Glycogen storage disease type III 1 1 0 2
Glycogen storage disease, type VI 0 2 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2 0 0 2
HYPERLYSINEMIA, TYPE I 1 1 0 2
Hearing loss, autosomal recessive 106 1 1 0 2
Hemochromatosis type 3 0 2 0 2
Hemolytic anemia due to glutathione reductase deficiency 0 2 0 2
Hereditary coproporphyria; Harderoporphyria 0 2 0 2
Hereditary hypotrichosis with recurrent skin vesicles 0 2 0 2
Hereditary spastic paraplegia 52 1 1 0 2
Hermansky-Pudlak syndrome 6 2 0 0 2
Heterotaxy, visceral, 11, autosomal, with male infertility 1 1 0 2
Heterotaxy, visceral, 8, autosomal 0 2 0 2
Heterotaxy, visceral, 9, autosomal, with male infertility 1 1 0 2
Hyaline fibromatosis syndrome 1 1 0 2
Hydroxykynureninuria; Vertebral, cardiac, renal, and limb defects syndrome 2 0 2 0 2
Hyperammonemia, type III 1 1 0 2
Hyperekplexia 2 2 0 0 2
Hyperinsulinemic hypoglycemia, familial, 2 0 2 0 2
Hyperlipoproteinemia, type I 0 2 0 2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 1 1 0 2
Hyperphosphatasia with intellectual disability syndrome 3 0 2 0 2
Hyperphosphatasia with intellectual disability syndrome 4 0 2 0 2
Hypogonadotropic hypogonadism 8 with or without anosmia 0 2 0 2
Hypothyroidism, congenital, nongoitrous, 7 0 2 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 2 0 2
Hypouricemia, renal, 2 0 2 0 2
Imerslund-Grasbeck syndrome type 2 1 1 0 2
Immunodeficiency due to MASP-2 deficiency 0 2 0 2
Immunodeficiency, common variable, 7 0 2 0 2
Infantile liver failure syndrome 3 0 2 0 2
Infantile onset spinocerebellar ataxia; Perrault syndrome 5 0 2 0 2
Infertility associated with multi-tailed spermatozoa and excessive DNA 1 1 0 2
Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive 0 2 0 2
Inflammatory bowel disease 28 0 2 0 2
Intellectual disability, autosomal recessive 1 0 2 0 2
Intellectual disability, autosomal recessive 53 0 2 0 2
Interstitial lung disease due to ABCA3 deficiency 1 1 0 2
Iodotyrosine deiodination defect 1 1 0 2
Isolated congenital digital clubbing; Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 1 1 0 2
Isovaleryl-CoA dehydrogenase deficiency 1 1 0 2
Joubert syndrome 21 0 2 0 2
Joubert syndrome 30 0 2 0 2
Joubert syndrome 33 0 2 0 2
Joubert syndrome 37 0 2 0 2
Joubert syndrome 8 0 2 0 2
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 1 1 0 2
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 2 0 2
L-2-hydroxyglutaric aciduria 1 1 0 2
L-ferritin deficiency 1 1 0 2
Leber congenital amaurosis 2; Retinitis pigmentosa 20 1 1 0 2
Lethal multiple pterygium syndrome; Congenital myasthenic syndrome 3B; Congenital myasthenic syndrome 3C 1 1 0 2
Leukodystrophy, hypomyelinating, 27 0 2 0 2
Leukoencephalopathy with vanishing white matter 4 0 2 0 2
Lipid proteinosis 0 2 0 2
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency 1 1 1 0 2
MORM syndrome; Joubert syndrome 1 0 2 0 2
MPDU1-congenital disorder of glycosylation 0 2 0 2
Macular corneal dystrophy 0 2 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 2 0 0 2
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 1 1 0 2
Methylmalonic acidemia with homocystinuria, type cblJ 0 2 0 2
Microcephalic osteodysplastic primordial dwarfism type II 0 2 0 2
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 2 0 2
Microcephaly 1, primary, autosomal recessive 0 2 0 2
Microcephaly 8, primary, autosomal recessive 0 2 0 2
Microcephaly and chorioretinopathy 1 0 2 0 2
Microcephaly, short stature, and impaired glucose metabolism 1 0 2 0 2
Microcephaly-capillary malformation syndrome 0 2 0 2
Mitochondrial complex I deficiency, nuclear type 28 0 2 0 2
Mitochondrial complex I deficiency, nuclear type 29 2 0 0 2
Mitochondrial complex I deficiency, nuclear type 33 0 2 0 2
Mitochondrial complex IV deficiency, nuclear type 3 0 2 0 2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 0 2 0 2
Multiple sulfatase deficiency 1 1 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 1 1 0 2
Myopathy, proximal, and ophthalmoplegia 0 2 0 2
Myopia 28, autosomal recessive 0 2 0 2
NDE1-related microhydranencephaly; Lissencephaly 4 0 2 0 2
Nemaline myopathy 10 1 1 0 2
Neonatal pseudo-hydrocephalic progeroid syndrome; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 1 1 0 2
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0 2 0 2
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 0 2 0 2
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 2 0 2
Neuronal ceroid lipofuscinosis 1 0 2 0 2
Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement 2 0 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 5 0 2 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 7 0 2 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 1 0 2
Nonsyndromic congenital nail disorder 3 0 2 0 2
Nystagmus, congenital, autosomal recessive; Neurooculorenal syndrome 0 2 0 2
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2 0 0 2
Oculocutaneous albinism type 3 1 1 0 2
Oocyte maturation defect 2 0 2 0 2
Oocyte/zygote/embryo maturation arrest 20 0 2 0 2
Orofaciodigital syndrome XV; Joubert syndrome 38; Short-rib thoracic dysplasia 21 without polydactyly 0 2 0 2
Osteosclerotic metaphyseal dysplasia 0 2 0 2
Ovarian dysgenesis 5 0 2 0 2
PSAT deficiency; Neu-Laxova syndrome 2 0 2 0 2
Pancytopenia-developmental delay syndrome 1 1 0 2
Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 0 2 0 2
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0 2 0 2
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 0 2 0 2
Pili torti-developmental delay-neurological abnormalities syndrome 0 2 0 2
Platelet-type bleeding disorder 11 1 1 0 2
Pontocerebellar hypoplasia type 7 0 2 0 2
Premature ovarian failure 24 0 2 0 2
Primary ciliary dyskinesia 12 2 0 0 2
Primary ciliary dyskinesia 23 2 0 0 2
Primary ciliary dyskinesia 35 0 2 0 2
Primary ciliary dyskinesia 6 0 2 0 2
Primary ciliary dyskinesia 7 1 1 0 2
Protoporphyria, erythropoietic, 1 1 1 0 2
Pulmonary hypertension, primary, 6 0 2 0 2
Pyridoxine-dependent epilepsy 1 1 0 2
Pyruvate kinase deficiency of red cells 1 1 0 2
RECON progeroid syndrome 0 2 0 2
Renal tubular acidosis with progressive nerve deafness 1 1 0 2
Retinitis pigmentosa 36 2 0 0 2
Retinitis pigmentosa 38 0 2 0 2
Retinitis pigmentosa 7 0 2 0 2
Retinitis pigmentosa 78 0 2 0 2
SCOTT SYNDROME 0 2 0 2
SRD5A3-congenital disorder of glycosylation; Kahrizi syndrome 1 1 0 2
Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive 1 1 0 2
Sengers syndrome; Cataract 38 1 1 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 2 0 2
Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2 0 0 2
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 0 2 0 2
Shwachman-Diamond syndrome 1 2 0 0 2
Sjögren-Larsson syndrome 2 0 0 2
Spermatogenic failure 14 0 2 0 2
Spermatogenic failure 20 1 1 0 2
Spermatogenic failure 2; Premature ovarian failure 20 0 2 0 2
Spermatogenic failure 30 0 2 0 2
Spermatogenic failure 31 0 2 0 2
Spermatogenic failure 37 0 2 0 2
Spermatogenic failure 44 0 2 0 2
Spermatogenic failure 47 0 2 0 2
Spermatogenic failure 51 0 2 0 2
Spermatogenic failure 52; Premature ovarian failure 18 0 2 0 2
Spermatogenic failure 73 0 2 0 2
Spermatogenic failure 82 0 2 0 2
Spermatogenic failure 88; Premature ovarian failure 22 0 2 0 2
Spermatogenic failure 95 1 1 0 2
Spermatogenic failure 98; Ciliary dyskinesia, primary, 54 0 2 0 2
Spinocerebellar ataxia, autosomal recessive 29 0 2 0 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2 0 0 2
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; Lipodystrophy, congenital generalized, type 5 0 2 0 2
Spongy degeneration of central nervous system 0 2 0 2
Steel syndrome 0 2 0 2
Stromme syndrome 0 2 0 2
Tangier disease 0 2 0 2
Trichomegaly 0 2 0 2
Urofacial syndrome type 1 1 1 0 2
VPS13A-related neurodegenerative disease 0 2 0 2
Vertebral, cardiac, renal, and limb defects syndrome 1 0 2 0 2
Vertebral, cardiac, renal, and limb defects syndrome 3 1 1 0 2
Vitelliform macular dystrophy 4 0 2 0 2
Waardenburg syndrome type 4B 0 2 0 2
Warsaw breakage syndrome 1 1 0 2
Weill-Marchesani 4 syndrome, recessive 0 2 0 2
Xeroderma pigmentosum group A 2 0 0 2
3-hydroxyisobutyryl-CoA hydrolase deficiency 0 1 0 1
3-methylglutaconic aciduria type 1 0 1 0 1
3M syndrome 1 1 0 0 1
3MC syndrome 1 0 1 0 1
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 0 1 0 1
46,XY sex reversal 1 0 0 1 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 0 1 0 1
ALDH18A1-related de Barsy syndrome; Autosomal recessive complex spastic paraplegia type 9B 1 0 0 1
ALG8 congenital disorder of glycosylation 0 1 0 1
ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome 0 1 0 1
Acatalasia 0 1 0 1
Acheiropodia 0 1 0 1
Achondroplasia; Thanatophoric dysplasia type 1 1 0 0 1
Achromatopsia 3 0 1 0 1
Achromatopsia 4 1 0 0 1
Acrodermatitis continua suppurativa of Hallopeau 0 1 0 1
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 1 0 0 1
Adenosine kinase deficiency 0 1 0 1
Adenylosuccinate lyase deficiency 0 1 0 1
Adrenoleukodystrophy 0 1 0 1
Agammaglobulinemia 4, autosomal recessive 1 0 0 1
Aicardi-Goutieres syndrome 2 1 0 0 1
Aicardi-Goutieres syndrome 3 1 0 0 1
Aicardi-Goutieres syndrome 6 1 0 0 1
Al Kaissi syndrome 1 0 0 1
Al-Raqad syndrome 0 1 0 1
Alopecia universalis congenita; Atrichia with papular lesions 1 0 0 1
Alopecia-intellectual disability syndrome 1 0 1 0 1
Alpha-N-acetylgalactosaminidase deficiency type 2; Alpha-N-acetylgalactosaminidase deficiency type 1 1 0 0 1
Alstrom syndrome 0 1 0 1
Amelogenesis imperfecta type 1C 1 0 0 1
Amelogenesis imperfecta type 2A1 1 0 0 1
Amelogenesis imperfecta, type 1J 0 1 0 1
Amyloidosis, primary localized cutaneous, 3 0 1 0 1
Amyotrophic lateral sclerosis type 12 0 1 0 1
Analbuminemia; Ovarian dysgenesis 6; Galloway-Mowat syndrome 7 0 1 0 1
Anaphylotoxin inactivator deficiency 0 1 0 1
Anauxetic dysplasia 2 0 1 0 1
Androgen resistance syndrome; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked 0 1 0 1
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities 0 1 0 1
Arrhythmogenic right ventricular dysplasia 9 1 0 0 1
Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2 1 0 0 1
Arterial tortuosity syndrome 1 0 0 1
Arterial tortuosity-bone fragility syndrome 0 1 0 1
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 0 1 0 1
Arthrogryposis, distal, with impaired proprioception and touch 0 1 0 1
Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 0 1 0 1
Atelis syndrome 2 0 1 0 1
Auditory neuropathy-optic atrophy syndrome; Multiple mitochondrial dysfunctions syndrome 9b 0 1 0 1
Autoimmune disease, multisystem, infantile-onset, 3 0 1 0 1
Autoimmune lymphoproliferative syndrome type 2B 0 1 0 1
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 1
Autosomal recessive amelia 1 0 0 1
Autosomal recessive bestrophinopathy 0 1 0 1
Autosomal recessive congenital ichthyosis 1 1 0 0 1
Autosomal recessive congenital ichthyosis 10 0 1 0 1
Autosomal recessive congenital ichthyosis 6 0 1 0 1
Autosomal recessive congenital ichthyosis 8 1 0 0 1
Autosomal recessive early-onset Parkinson disease 23 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 101 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 1B 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 21 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 24 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 39 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 42 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 44 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 53; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Fibrochondrogenesis 2 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 67 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 76 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 84A 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 9 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 93 0 1 0 1
Autosomal recessive osteopetrosis 4 0 1 0 1
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 1 0 1
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 0 1 0 1
Autosomal recessive spinocerebellar ataxia 10 0 1 0 1
Bailey-Bloch congenital myopathy 0 1 0 1
Bardet-Biedl syndrome 1 1 0 0 1
Bardet-Biedl syndrome 10 1 0 0 1
Bardet-Biedl syndrome 12 0 1 0 1
Bardet-Biedl syndrome 17 0 1 0 1
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 1 0 0 1
Bardet-Biedl syndrome 7 1 0 0 1
Bartsocas-Papas syndrome 1 0 0 1 1
Bartter disease type 1 1 0 0 1
Bartter disease type 3 0 1 0 1
Basal ganglia calcification, idiopathic, 10, autosomal recessive 0 1 0 1
Basal ganglia calcification, idiopathic, 7, autosomal recessive 0 1 0 1
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 0 1 0 1
Bernard Soulier syndrome 0 1 0 1
Beta-D-mannosidosis 1 0 0 1
Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome 1 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 1 0 1
Bloom syndrome 1 0 0 1
Bone fragility with contractures, arterial rupture, and deafness 0 1 0 1
Braddock-carey syndrome 2 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 0 1 0 1
Breasts and/or nipples, aplasia or hypoplasia of, 2 0 1 0 1
Brown-Vialetto-van Laere syndrome 1; Progressive bulbar palsy of childhood 0 1 0 1
Bruck syndrome 2 0 1 0 1
Brunet-Wagner neurodevelopmental syndrome 0 1 0 1
CEDNIK syndrome 0 1 0 1
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Nephronophthisis 11 0 1 0 1
CODAS syndrome 0 1 0 1
COG4-congenital disorder of glycosylation 0 1 0 1
COG7 congenital disorder of glycosylation 1 0 0 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 1 0 1
Candidiasis, familial, 9 0 1 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 1 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 0 1 0 1
Cardiomyopathy, dilated, 2D 0 1 0 1
Cardiomyopathy, dilated, 2K 0 1 0 1
Cardiomyopathy, dilated, 2M 0 1 0 1
Cardiomyopathy, dilated, 2j 0 1 0 1
Carey-Fineman-Ziter syndrome 2 0 1 0 1
Carney complex - trismus - pseudocamptodactyly syndrome 0 1 0 1
Carnitine acylcarnitine translocase deficiency 1 0 0 1
Cataract 16 multiple types; Fatal infantile hypertonic myofibrillar myopathy 0 1 0 1
Cataract 36 0 1 0 1
Cataract 44 0 1 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 1 0 0 1
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism; Pontocerebellar hypoplasia, IIA 17 0 1 0 1
Cerebral folate transport deficiency 0 1 0 1
Cerebrooculofacioskeletal syndrome 4 1 0 0 1
Cerebroretinal microangiopathy with calcifications and cysts 2 0 1 0 1
Ceroid lipofuscinosis, neuronal, 6A; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A 1 0 0 1
Charcot-Marie-Tooth disease recessive intermediate B; Autosomal recessive nonsyndromic hearing loss 89; Leukoencephalopathy, progressive, infantile-onset, with or without deafness; Deafness, congenital, and adult-onset progressive leukoencephalopathy 0 1 0 1
Charcot-Marie-Tooth disease recessive intermediate D 1 0 0 1
Charcot-Marie-Tooth disease type 4B3 0 1 0 1
Charlevoix-Saguenay spastic ataxia 1 0 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 1 0 1
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 0 1 0 1
Cholestanol storage disease 0 1 0 1
Cholestasis, progressive familial intrahepatic, 5 0 1 0 1
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 1 0 1
Cholestasis, progressive familial intrahepatic, 9 0 1 0 1
Chuvash polycythemia 1 0 0 1
Ciliary dyskinesia, primary, 38 1 0 0 1
Ciliary dyskinesia, primary, 48, without situs inversus 0 1 0 1
Ciliary dyskinesia, primary, 51 0 1 0 1
Cleft lip/palate-ectodermal dysplasia syndrome 1 0 0 1
Cobblestone lissencephaly without muscular or ocular involvement 0 1 0 1
Coenzyme Q10 deficiency, primary, 1 0 1 0 1
Coenzyme Q10 deficiency, primary, 3 0 1 0 1
Coffin-Siris syndrome 1 0 1 0 1
Cohen syndrome 0 1 0 1
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 1 0 0 1
Combined immunodeficiency due to STK4 deficiency 1 0 0 1
Combined oxidative phosphorylation defect type 11 0 1 0 1
Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70 0 1 0 1
Combined oxidative phosphorylation defect type 17 0 1 0 1
Combined oxidative phosphorylation defect type 2 0 1 0 1
Combined oxidative phosphorylation deficiency 28 0 1 0 1
Combined oxidative phosphorylation deficiency 35 0 1 0 1
Combined oxidative phosphorylation deficiency 36 0 1 0 1
Combined oxidative phosphorylation deficiency 39 0 1 0 1
Combined oxidative phosphorylation deficiency 41 0 1 0 1
Combined oxidative phosphorylation deficiency 44 0 1 0 1
Combined oxidative phosphorylation deficiency 60 0 1 0 1
Cone-rod dystrophy 19 0 1 0 1
Cone-rod dystrophy 20 0 1 0 1
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 0 1 0 1
Congenital bile acid synthesis defect 2 0 1 0 1
Congenital disorder of glycosylation, type IIcc 0 1 0 1
Congenital lactase deficiency 0 1 0 1
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 1 0 1
Congenital lipoid adrenal hyperplasia due to STAR deficency 0 1 0 1
Congenital multicore myopathy with external ophthalmoplegia 0 1 0 1
Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 1 0 1
Congenital myasthenic syndrome 12 0 1 0 1
Congenital myasthenic syndrome 19 0 1 0 1
Congenital myasthenic syndrome 21 0 1 0 1
Congenital myasthenic syndrome 8 0 1 0 1
Congenital myopathy 20 0 1 0 1
Congenital primary aphakia; Cataract 34 multiple types 1 0 0 1
Congenital secretory diarrhea, chloride type 1 0 0 1
Congenital short bowel syndrome, autosomal recessive 0 1 0 1
Congenital stationary night blindness 1D 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 11 0 1 0 1
Corticosteroid-binding globulin deficiency 0 1 0 1
Cutis laxa with osteodystrophy; Wrinkly skin syndrome 1 0 0 1
Cystathioninuria 0 1 0 1
Cystic disease of lung 0 1 0 1
Cystic leukoencephalopathy without megalencephaly 0 1 0 1
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 1 0 1
Deeah syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 1 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 1 0 1
Deficiency of cytochrome-b5 reductase 0 1 0 1
Deficiency of guanidinoacetate methyltransferase 1 0 0 1
Deficiency of steroid 17-alpha-monooxygenase 0 1 0 1
Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4F 0 1 0 1
Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7 1 0 0 1
Developmental and epileptic encephalopathy 106 1 0 0 1
Developmental and epileptic encephalopathy 111 0 1 0 1
Developmental and epileptic encephalopathy, 35 1 0 0 1
Developmental and epileptic encephalopathy, 37 1 0 0 1
Developmental and epileptic encephalopathy, 40 0 1 0 1
Developmental and epileptic encephalopathy, 68 0 1 0 1
Developmental and epileptic encephalopathy, 77 1 0 0 1
Developmental and epileptic encephalopathy, 86 0 1 0 1
Developmental delay with hypotonia, myopathy, and brain abnormalities 0 1 0 1
Diamond-Blackfan anemia 21 0 1 0 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 1 0 0 1
Dihydropyrimidinase deficiency 1 0 0 1
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 0 1 0 1
Dyggve-Melchior-Clausen syndrome; Smith-McCort dysplasia 1 1 0 0 1
Dyskeratosis congenita, autosomal dominant 2 1 0 0 1
Dyskeratosis congenita, autosomal dominant 6 0 1 0 1
Dystonia 22, adult-onset; Dystonia 22, juvenile-onset 0 1 0 1
Dystonia 27; Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C 0 1 0 1
Dystonia 31 0 1 0 1
EAST syndrome 0 1 0 1
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 1 0 1
Ectodermal dysplasia 15, hypohidrotic/hair type 0 1 0 1
Ectodermal dysplasia 7, hair/nail type 0 1 0 1
Ehlers-Danlos syndrome, cardiac valvular type 0 1 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 0 1 0 1
Elliptocytosis 3 0 1 0 1
Ellis-van Creveld syndrome 0 1 0 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 0 1 0 1
Endocrine-cerebro-osteodysplasia syndrome 0 1 0 1
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 0 1 0 1
Epidermolysis bullosa, junctional 4, intermediate 0 1 0 1
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0 1 0 1
Epidermolytic hyperkeratosis 2B, autosomal recessive 0 1 0 1
Epilepsy, familial temporal lobe, 1 0 1 0 1
Epsilon-trimethyllysine hydroxylase deficiency 0 1 0 1
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 1 0 1
Familial adenomatous polyposis 4 0 1 0 1
Familial hemophagocytic lymphohistiocytosis 3 0 1 0 1
Familial hypobetalipoproteinemia 2; Developmental and epileptic encephalopathy, 23 0 1 0 1
Familial infantile bilateral striatal necrosis 0 1 0 1
Familial infantile myasthenia 0 1 0 1
Familial isolated deficiency of vitamin E 1 0 0 1
Familial porphyria cutanea tarda 0 1 0 1
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 1 0 1
Fanconi anemia complementation group C 1 0 0 1
Fanconi anemia complementation group D1 0 1 0 1
Fanconi anemia complementation group D2 1 0 0 1
Fanconi anemia complementation group E 1 0 0 1
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 0 1 0 1
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 1 0 0 1
Fetal akinesia deformation sequence 4 0 1 0 1
Fetal akinesia-cerebral and retinal hemorrhage syndrome 0 1 0 1
Fibrochondrogenesis 1 0 1 0 1
Fibrosis of extraocular muscles, congenital, 5 0 1 0 1
Fibrosis, neurodegeneration, and cerebral angiomatosis 1 0 0 1
Filippi syndrome 0 1 0 1
Finnish congenital nephrotic syndrome 1 0 0 1
Focal segmental glomerulosclerosis 3, susceptibility to 0 1 0 1
Fucosidosis 0 1 0 1
Fuhrmann syndrome; Schinzel phocomelia syndrome; Santos syndrome 0 1 0 1
GCGR-related hyperglucagonemia 0 1 0 1
GNPTG-mucolipidosis 0 1 0 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 0 1 0 1
Galactosemia 4 0 1 0 1
Galloway-Mowat syndrome 3 0 1 0 1
Galloway-Mowat syndrome 4 0 1 0 1
Gaze palsy, familial horizontal, with progressive scoliosis 1 0 1 0 1
Glucocorticoid deficiency 4 0 1 0 1
Glucocorticoid deficiency with achalasia 1 0 0 1
Glycine encephalopathy 2 0 1 0 1
Glycogen storage disease IXc 1 0 0 1
Glycogen storage disease XV; Polyglucosan body myopathy type 2 0 1 0 1
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 0 1 0 1
Glycogen storage disease type X 1 0 0 1
Glycogen storage disease, type II; Glycogen storage disease due to acid maltase deficiency, late-onset 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 15 0 1 0 1
Gnb5-related intellectual disability-cardiac arrhythmia syndrome; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 1 0 0 1
Granulomatous disease, chronic, autosomal recessive, 5 0 1 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 1 0 0 1
Greenberg dysplasia; Regressive spondylometaphyseal dysplasia 1 0 0 1
Griscelli syndrome type 3 0 1 0 1
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 0 1 0 1
H syndrome 1 0 0 1
HNSHA due to aldolase A deficiency 0 1 0 1
Haim-Munk syndrome; Papillon-Lefèvre syndrome; Periodontitis, aggressive 1 0 1 0 1
Hearing loss, X-linked 6 0 1 0 1
Hearing loss, autosomal recessive 100 0 1 0 1
Hearing loss, autosomal recessive 109 0 1 0 1
Hearing loss, autosomal recessive 112 0 1 0 1
Hearing loss, autosomal recessive 119; Neurodevelopmental disorder with hearing loss and spasticity 1 0 0 1
Hearing loss, autosomal recessive 57 0 1 0 1
Heart and brain malformation syndrome; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies 0 1 0 1
Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 1 0 0 1
Hemochromatosis type 2A 1 0 0 1
Hennekam lymphangiectasia-lymphedema syndrome 1 0 1 0 1
Hepatorenocardiac degenerative fibrosis 0 1 0 1
Hereditary factor X deficiency disease 1 0 0 1
Hereditary sensory and autonomic neuropathy type 6 0 1 0 1
Hereditary spastic paraplegia 23 1 0 0 1
Hereditary spastic paraplegia 35 1 0 0 1
Hereditary spastic paraplegia 51 1 0 0 1
Hereditary spastic paraplegia 54 0 1 0 1
Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 0 1 0 1
Hermansky-Pudlak syndrome 11 0 1 0 1
Hermansky-Pudlak syndrome 5 0 1 0 1
Hermansky-Pudlak syndrome 9 0 1 0 1
Heterotaxy, visceral, 14, autosomal 0 1 0 1
Heterotaxy, visceral, 7, autosomal 0 1 0 1
Hoxha-Aliu syndrome; Spondyloepimetaphyseal dysplasia, Guo-Campeau type 0 1 0 1
Hydatidiform mole, recurrent, 1 0 1 0 1
Hydatidiform mole, recurrent, 3 0 1 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 1 0 1 0 1
Hyper-IgM syndrome type 2 0 1 0 1
Hyperbiliverdinemia 0 1 0 1
Hypercholesterolemia, familial, 1 1 0 0 1
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 0 1 0 1
Hyperparathyroidism, transient neonatal 0 1 0 1
Hyperphosphatasemia with bone disease 0 1 0 1
Hyperphosphatasia with intellectual disability syndrome 1 0 1 0 1
Hyperprolinemia type 2 0 1 0 1
Hypertrophic cardiomyopathy 8 0 1 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 1 0 1
Hypervalinemia and hyperleucine-isoleucinemia 0 1 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 1 0 1
Hypogonadotropic hypogonadism 12 with or without anosmia 0 0 1 1
Hypokalemic tubulopathy and deafness 0 1 0 1
Hypomyelinating leukodystrophy 2; Hereditary spastic paraplegia 44 0 1 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 1 0 1
Hypomyelinating leukodystrophy 9 0 1 0 1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 0 1 0 1
Hypoparathyroidism, familial isolated 1 0 1 0 1
Hypophosphatemic rickets, autosomal recessive, 1 1 0 0 1
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 1 0 1
Hypotrichosis 15 1 0 0 1
Hypotrichosis 7 0 1 0 1
Hypotrichosis 8 1 0 0 1
Ichthyosis, congenital, autosomal recessive 13 0 1 0 1
Immunodeficiency 122 0 1 0 1
Immunodeficiency 19 1 0 0 1
Immunodeficiency 23 0 1 0 1
Immunodeficiency 39 0 1 0 1
Immunodeficiency 51 0 1 0 1
Immunodeficiency 89 and autoimmunity 0 1 0 1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 0 1 0 1
Infantile liver failure syndrome 1 0 1 0 1
Infantile nephronophthisis 0 1 0 1
Infantile-onset generalized dyskinesia with orofacial involvement 0 1 0 1
Inherited obesity 0 1 0 1
Inherited prekallikrein deficiency 1 0 0 1
Intellectual Developmental Disorder, Stocco Dos Santos Type 0 0 1 1
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 1 0 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 1 0 1
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 1 0 1
Intellectual developmental disorder, X-linked 114 0 1 0 1
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 1 0 0 1
Intellectual developmental disorder, autosomal recessive 78 0 1 0 1
Intellectual developmental disorder, autosomal recessive 82 1 0 0 1
Intellectual disability 0 0 1 1
Intellectual disability, autosomal recessive 18 0 1 0 1
Intellectual disability, autosomal recessive 3 0 1 0 1
Intellectual disability, autosomal recessive 44 1 0 0 1
Intellectual disability, autosomal recessive 47 0 1 0 1
Intellectual disability, autosomal recessive 52 0 1 0 1
Intellectual disability, autosomal recessive 58 0 1 0 1
Intellectual disability-strabismus syndrome 1 0 0 1
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 0 1 0 1
Isolated growth hormone deficiency, type 5 0 1 0 1
Isolated hyperchlorhidrosis 0 1 0 1
Isolated microphthalmia 2; Microphthalmia, isolated, with coloboma 3 1 0 0 1
Jervell and Lange-Nielsen syndrome 2 0 1 0 1
Joubert syndrome 15 0 1 0 1
Joubert syndrome 26 1 0 0 1
Joubert syndrome 36 0 1 0 1
Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 1 0 0 1
Kartagener syndrome 0 1 0 1
Karyomegalic interstitial nephritis 1 0 0 1
Ketoacidosis due to monocarboxylate transporter-1 deficiency 1 0 0 1
Knobloch syndrome 1 1 0 0 1
Lactic aciduria due to D-lactic acid 0 1 0 1
Laryngo-onycho-cutaneous syndrome; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 0 1 0 1
Leber congenital amaurosis 3 0 1 0 1
Leber congenital amaurosis 4 0 1 0 1
Leber congenital amaurosis 9; Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis 1 0 0 1
Lethal arthrogryposis-anterior horn cell disease syndrome; Lethal congenital contracture syndrome 1 0 1 0 1
Lethal congenital contracture syndrome 11 0 1 0 1
Lethal congenital contracture syndrome 2; Visceral neuropathy, familial, 1, autosomal recessive 0 1 0 1
Lethal congenital contracture syndrome 4 0 1 0 1
Lethal congenital contracture syndrome 7; Neuropathy, congenital hypomyelinating, 3 1 0 0 1
Lethal congenital contracture syndrome 9 0 1 0 1
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 0 1 0 1
Leukodystrophy and acquired microcephaly with or without dystonia; 0 1 0 1
Leukodystrophy, hypomyelinating, 15 0 1 0 1
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 1 0 0 1
Leukoencephalopathy with vanishing white matter 1 0 1 0 1
Leukoencephalopathy with vanishing white matter 2 1 0 0 1
Leukoencephalopathy with vanishing white matter 5 0 1 0 1
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 0 1 0 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 1 0 1
Li-Takada-Miyake syndrome 0 1 0 1
Liberfarb syndrome 0 1 0 1
Lipodystrophy, familial partial, type 9 0 1 0 1
Lopes-Maciel-Rodan syndrome 0 1 0 1
MGAT2-congenital disorder of glycosylation 0 1 0 1
MHC class I deficiency 3 0 1 0 1
MHC class II deficiency 2 1 0 0 1
MYPN-related myopathy 0 1 0 1
Maple syrup urine disease type 1B 0 1 0 1
McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 0 1 0 1
Meckel syndrome, type 8; Joubert syndrome 24 0 1 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 0 1 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 0 0 1
Meier-Gorlin syndrome 3 0 1 0 1
Meier-Gorlin syndrome 4 0 1 0 1
Meier-Gorlin syndrome 7 0 1 0 1
Metaphyseal anadysplasia 2 0 1 0 1
Metaphyseal chondrodysplasia, Spahr type 0 1 0 1
Methylmalonate semialdehyde dehydrogenase deficiency 0 1 0 1
Methylmalonic aciduria and homocystinuria type cblF 0 1 0 1
Mevalonic aciduria; Hyperimmunoglobulin D with periodic fever 1 0 0 1
Microcephalic primordial dwarfism due to RTTN deficiency 0 1 0 1
Microcephaly 14, primary, autosomal recessive 0 1 0 1
Microcephaly 16, primary, autosomal recessive 0 1 0 1
Microcephaly 4, primary, autosomal recessive 0 1 0 1
Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 0 1 0 1
Microcephaly, developmental delay, and brittle hair syndrome 0 1 0 1
Microcephaly-micromelia syndrome; Microcephaly, short stature, and limb abnormalities 0 1 0 1
Microcornea-myopic chorioretinal atrophy 0 1 0 1
Microphthalmia, isolated, with coloboma 9 0 1 0 1
Migraine, familial hemiplegic, 2 0 0 1 1
Miller syndrome 0 1 0 1
Mitochondrial DNA depletion syndrome 1 1 0 0 1
Mitochondrial DNA depletion syndrome 11 0 1 0 1
Mitochondrial DNA depletion syndrome 13 1 0 0 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; Portal hypertension, noncirrhotic, 1 1 0 0 1
Mitochondrial DNA depletion syndrome 8a; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 0 1 0 1
Mitochondrial DNA depletion syndrome, myopathic form; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 0 1 0 1
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 16 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 17; Fanconi renotubular syndrome 5 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 21 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 23 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 26 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 3 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 36 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 7 0 1 0 1
Mitochondrial complex III deficiency nuclear type 4 1 0 0 1
Mitochondrial complex IV deficiency, nuclear type 11 1 0 0 1
Mitochondrial complex IV deficiency, nuclear type 14 0 1 0 1
Mitochondrial complex IV deficiency, nuclear type 22 0 1 0 1
Mitochondrial complex IV deficiency, nuclear type 4 0 1 0 1
Mitochondrial complex IV deficiency, nuclear type 8 1 0 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 1 0 0 1
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 0 1 0 1
Mohr syndrome; Short-rib thoracic dysplasia 6 with or without polydactyly 0 1 0 1
Morimoto-Ryu-Malicdan neuromuscular syndrome 1 0 0 1
Mosaic variegated aneuploidy syndrome 1 0 1 0 1
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 0 1 0 1
Moyamoya disease with early-onset achalasia 0 1 0 1
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 0 1 0 1
Mucopolysaccharidosis, MPS-III-A 0 1 0 1
Mucopolysaccharidosis, MPS-III-B 0 1 0 1
Mucopolysaccharidosis, type 10 0 1 0 1
Multiple mitochondrial dysfunctions syndrome 10 0 1 0 1
Multiple mitochondrial dysfunctions syndrome 1; Spastic paraplegia 93, autosomal recessive 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 7 0 1 0 1
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 0 1 0 1
Muscular dystrophy, congenital, with rapid progression 0 1 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 27 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 0 1 0 1
Myofibrillar myopathy 11 0 1 0 1
Myofibrillar myopathy 7 0 1 0 1
Myopathy with abnormal lipid metabolism 0 1 0 1
Myopathy, distal, 5 0 1 0 1
Myopia 23, autosomal recessive 0 1 0 1
Myosclerosis; Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B 1 0 0 1
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; Spastic ataxia 10, autosomal recessive 0 1 0 1
Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1 0 0 1
Nephronophthisis 20 0 1 0 1
Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 0 1 0 1
Nephrotic syndrome, type 12 0 1 0 1
Nephrotic syndrome, type 20 0 1 0 1
Nephrotic syndrome, type 23 0 1 0 1
Nephrotic syndrome, type 24 0 1 0 1
Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia, type 12 1 0 0 1
Neurodegeneration with brain iron accumulation 8 0 1 0 1
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities 0 1 0 1
Neurodegeneration, childhood-onset, with cerebellar atrophy 0 1 0 1
Neurodegeneration, infantile-onset, biotin-responsive; Peripheral motor neuropathy, childhood-onset, biotin-responsive 0 1 0 1
Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 0 1 0 1
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 0 1 0 1
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities 1 0 0 1
Neurodevelopmental disorder with epilepsy and brain atrophy 0 1 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities 0 1 0 1
Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities 0 1 0 1
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0 1 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 1 0 0 1
Neurodevelopmental disorder with language delay and seizures 0 1 0 1
Neurodevelopmental disorder with microcephaly and movement abnormalities 0 1 0 1
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 0 1 0 1
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 1 0 1
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment 1 0 0 1
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 0 1
Neurodevelopmental disorder with midbrain and hindbrain malformations 0 1 0 1
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 0 1 0 1
Neurodevelopmental disorder with poor growth and skeletal anomalies 0 1 0 1
Neurodevelopmental disorder with progressive spasticity and brain abnormalities 0 1 0 1
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 0 1 0 1
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures; Parkinsonism-dystonia 3, childhood-onset 0 1 0 1
Neurofibromatosis, type 1 0 1 0 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 0 1 0 1
Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 1 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 0 1 0 1
Neuropathy, hereditary sensory and autonomic, type 2A 0 1 0 1
Neuropathy, hereditary sensory, type 2C; Spastic paraplegia 30B, autosomal recessive 0 1 0 1
Neutral 1 amino acid transport defect 0 1 0 1
Noonan syndrome 14 0 1 0 1
Noonan syndrome 2 0 1 0 1
Normophosphatemic familial tumoral calcinosis 0 1 0 1
Oculocutaneous albinism type 6 1 0 0 1
Oculocutaneous albinism type 7 1 0 0 1
Oculotrichoanal syndrome; BNAR syndrome 0 1 0 1
Odonto-onycho-dermal dysplasia; Schöpf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 1 0 0 1
Oocyte maturation defect 14 0 1 0 1
Oocyte maturation defect 4 0 1 0 1
Oocyte maturation defect 6 0 1 0 1
Oocyte/zygote/embryo maturation arrest 19 0 1 0 1
Orofaciodigital syndrome 18 0 1 0 1
Osteogenesis imperfecta type 13 0 0 1 1
Osteogenesis imperfecta type 8 0 1 0 1
Osteootohepatoenteric syndrome 0 1 0 1
Ovarian dysgenesis 1 0 1 0 1
Ovarian dysgenesis 3 0 1 0 1
PEHO syndrome 0 1 0 1
PGM1-congenital disorder of glycosylation 1 0 0 1
PHGDH deficiency; Neu-Laxova syndrome 1 0 1 0 1
PMM2-congenital disorder of glycosylation 1 0 0 1
Paganini-Miozzo syndrome 0 1 0 1
Palmoplantar keratoderma, Nagashima type 0 1 0 1
Pancreatic agenesis 1 0 1 0 1
Peeling skin syndrome 5 0 1 0 1
Peeling skin syndrome 6 0 1 0 1
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 1 0 1
Periventricular heterotopia with microcephaly, autosomal recessive 0 1 0 1
Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B 0 1 0 1
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 0 1 0 1
Perrault syndrome 2 0 1 0 1
Phosphate transport defect; Glucose-6-phosphate transport defect 1 0 0 1
Phosphoribosylaminoimidazole carboxylase deficiency 0 1 0 1
Phytanic acid storage disease 1 0 0 1
Pigmentary retinal dystrophy 0 1 0 1
Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 0 1 0 1
Pitt-Hopkins-like syndrome 2 0 1 0 1
Plasminogen deficiency, type I 1 0 0 1
Polycystic kidney disease 2 0 1 0 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 0 1 0 1
Polydactyly of a biphalangeal thumb; Polydactyly, postaxial, type A8 0 1 0 1
Polydactyly, postaxial, type A9 1 0 0 1
Polydactyly, postaxial, type a7 1 0 0 1
Polyendocrine-polyneuropathy syndrome; Developmental and epileptic encephalopathy, 81 0 1 0 1
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Spastic paraplegia 84, autosomal recessive; Gastrointestinal defects and immunodeficiency syndrome 2 0 1 0 1
Pontocerebellar hypoplasia type 2D 1 0 0 1
Pontocerebellar hypoplasia type 2E 0 1 0 1
Pontocerebellar hypoplasia, type 1C 0 1 0 1
Pontocerebellar hypoplasia, type 1D 0 1 0 1
Portal hypertension, noncirrhotic, 2 0 1 0 1
Preimplantation embryonic lethality 1 0 1 0 1
Premature ovarian failure 12; Spermatogenic failure 15 0 1 0 1
Premature ovarian failure 8; Spermatogenic failure 61 0 1 0 1
Primary ciliary dyskinesia 11 1 0 0 1
Primary ciliary dyskinesia 14 1 0 0 1
Primary ciliary dyskinesia 17 1 0 0 1
Primary ciliary dyskinesia 2 0 1 0 1
Primary ciliary dyskinesia 20 0 1 0 1
Primary ciliary dyskinesia 22 1 0 0 1
Primary ciliary dyskinesia 24 0 1 0 1
Primary ciliary dyskinesia 26 1 0 0 1
Primary ciliary dyskinesia 28 0 1 0 1
Primary ciliary dyskinesia 29 0 1 0 1
Primary ciliary dyskinesia 30 0 1 0 1
Primary coenzyme Q10 deficiency 8; Neuronopathy, distal hereditary motor, autosomal recessive 9 0 1 0 1
Primary hyperoxaluria, type II 0 1 0 1
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 0 1 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 1 0 0 1
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1 0 0 1
Progressive pseudorheumatoid dysplasia 0 1 0 1
Proline dehydrogenase deficiency 0 1 0 1
Prolonged electroretinal response suppression 1 0 1 0 1
Prolonged electroretinal response suppression 2 0 1 0 1
Proteasome-associated autoinflammatory syndrome 5 0 1 0 1
Proximal myopathy with extrapyramidal signs 0 1 0 1
Pyknodysostosis 1 0 0 1
Pyruvate dehydrogenase E3 deficiency 1 0 0 1
RCBTB1-related retinopathy 0 1 0 1
RFT1-congenital disorder of glycosylation 1 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 1
Rajab interstitial lung disease with brain calcifications 1 0 1 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 0 0 1
Renal hypomagnesemia 4 0 1 0 1
Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 1 0 0 1
Renal-hepatic-pancreatic dysplasia 2 0 1 0 1
Retinal cone dystrophy 4 0 1 0 1
Retinitis pigmentosa 40 0 1 0 1
Retinitis pigmentosa 43 1 0 0 1
Retinitis pigmentosa 49 0 1 0 1
Retinitis pigmentosa 54 1 0 0 1
Retinitis pigmentosa 56 0 1 0 1
Retinitis pigmentosa 61; Usher syndrome type 3A 0 1 0 1
Retinitis pigmentosa 75 0 1 0 1
Retinitis pigmentosa 7; Pigmentary retinal dystrophy 0 1 0 1
Retinitis pigmentosa 86 0 1 0 1
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 1 0 1
Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B 1 0 0 1
Rhizomelic chondrodysplasia punctata type 2 0 1 0 1
Right atrial isomerism 1 0 0 1
Ritscher-Schinzel syndrome 1 0 1 0 1
Rothmund-Thomson syndrome type 3 0 1 0 1
Sarcotubular myopathy; Bardet-Biedl syndrome 11 0 1 0 1
Sclerosteosis 1 1 0 0 1
Sea-blue histiocyte syndrome; Familial type 3 hyperlipoproteinemia 0 1 0 1
Seckel syndrome 7 0 1 0 1
Seckel syndrome 8; Rothmund-Thomson syndrome type 4 0 1 0 1
Septo-optic dysplasia sequence 0 1 0 1
Severe combined immunodeficiency due to CARD11 deficiency 0 1 0 1
Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis 0 1 0 1
Severe combined immunodeficiency due to IKK2 deficiency 0 1 0 1
Severe dermatitis-multiple allergies-metabolic wasting syndrome 0 1 0 1
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Autosomal recessive spastic paraplegia type 70; Trichothiodystrophy 9, nonphotosensitive 0 1 0 1
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 1 0 1
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 1 0 1
Short stature due to growth hormone secretagogue receptor deficiency 0 1 0 1
Short stature due to primary acid-labile subunit deficiency 0 1 0 1
Short stature, Dauber-Argente type 0 1 0 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0 1 0 1
Short stature, microcephaly, and endocrine dysfunction 1 0 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 1
Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31 0 1 0 1
Short-rib thoracic dysplasia 16 with or without polydactyly 0 1 0 1
Short-rib thoracic dysplasia 17 with or without polydactyly 0 1 0 1
Short-rib thoracic dysplasia 19 with or without polydactyly 0 1 0 1
Short-rib thoracic dysplasia 20 with polydactyly; Orofaciodigital syndrome 17 0 1 0 1
Short-rib thoracic dysplasia 8 with or without polydactyly 0 1 0 1
Sialic acid storage disease, severe infantile type; Salla disease 0 1 0 1
Sinoatrial node dysfunction and deafness 0 1 0 1
Skeletal dysplasia, mild, with joint laxity and advanced bone age 0 1 0 1
Spastic ataxia 2 0 1 0 1
Spastic ataxia 3; Combined oxidative phosphorylation defect type 25 0 1 0 1
Spastic ataxia 4 0 1 0 1
Spastic ataxia 5 0 1 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 1 0 1
Spastic paraplegia 86, autosomal recessive 0 1 0 1
Spastic paraplegia 92, autosomal recessive 0 1 0 1
Spasticity-ataxia-gait anomalies syndrome; Sideroblastic anemia 3 0 1 0 1
Spermatogenic failure 16 0 1 0 1
Spermatogenic failure 17 0 1 0 1
Spermatogenic failure 21 0 1 0 1
Spermatogenic failure 27 0 1 0 1
Spermatogenic failure 38 0 1 0 1
Spermatogenic failure 40 0 1 0 1
Spermatogenic failure 42 1 0 0 1
Spermatogenic failure 54 0 1 0 1
Spermatogenic failure 57 0 1 0 1
Spermatogenic failure 62 1 0 0 1
Spermatogenic failure 67 0 1 0 1
Spermatogenic failure 70 0 1 0 1
Spermatogenic failure 76 0 1 0 1
Spermatogenic failure 81 0 1 0 1
Spermatogenic failure 83 0 1 0 1
Spermatogenic failure 86 0 1 0 1
Spermatogenic failure 96; Premature ovarian failure 25 0 1 0 1
Spermatogenic failure 97 0 1 0 1
Spermatogenic failure 99 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 26 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 28 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 30 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 32 0 1 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 0 1 0 1
Split hand-foot malformation 6 0 1 0 1
Sponastrime dysplasia 0 1 0 1
Spondylocostal dysostosis 3, autosomal recessive 0 1 0 1
Spondyloepimetaphyseal dysplasia with joint laxity, type 3 0 1 0 1
Spondyloepimetaphyseal dysplasia, matrilin-3 type 0 1 0 1
Spondyloepiphyseal dysplasia, kondo-fu type 0 1 0 1
Spondylometaphyseal dysplasia, Sedaghatian type 0 1 0 1
Stargardt disease 5 0 1 0 1
Stickler syndrome, type 4 0 1 0 1
Stickler syndrome, type 5 1 0 0 1
Sulfite oxidase deficiency 0 1 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 1 0 0 1
Surfactant metabolism dysfunction, pulmonary, 4 0 1 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 1
Systemic lupus erythematosus 0 0 1 1
T-B+ severe combined immunodeficiency due to JAK3 deficiency 0 1 0 1
TELO2-related intellectual disability-neurodevelopmental disorder 0 1 0 1
TMEM165-congenital disorder of glycosylation 0 1 0 1
Tay-Sachs disease 1 0 0 1
Tay-Sachs disease, variant AB 0 1 0 1
Temtamy syndrome 1 0 0 1
Testosterone 17-beta-dehydrogenase deficiency 1 0 0 1
Thrombophilia due to activated protein C resistance; Congenital factor V deficiency 0 1 0 1
Thrombophilia due to protein S deficiency, autosomal recessive 1 0 0 1
Thrombophilia due to thrombin defect 1 0 0 1
Thyroglobulin synthesis defect 0 1 0 1
Thyroid dyshormonogenesis 1 0 1 0 1
Thyroid hormone metabolism, abnormal 1 0 1 0 1
Transient infantile hypertriglyceridemia and hepatosteatosis 0 1 0 1
Trichothiodystrophy 7, nonphotosensitive 0 1 0 1
Triokinase and FMN cyclase deficiency syndrome 0 1 0 1
Tyrosinemia type I 1 0 0 1
Ullrich congenital muscular dystrophy 1A 1 0 0 1
Upshaw-Schulman syndrome 0 1 0 1
Urocanate hydratase deficiency 0 1 0 1
Van den Ende-Gupta syndrome 0 1 0 1
Variegate porphyria, childhood-onset 0 1 0 1
Waardenburg syndrome 2F 0 1 0 1
Webb-Dattani syndrome 0 1 0 1
Werner syndrome 1 0 0 1
Wolcott-Rallison dysplasia 1 0 0 1
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked 0 1 0 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia; Congenital disorder of glycosylation, type ICC 0 1 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 1
Xeroderma pigmentosum group B; Trichothiodystrophy 2, photosensitive 0 1 0 1
Xeroderma pigmentosum variant type 0 1 0 1
Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q 0 1 0 1
Ziegler-Huang syndrome 0 1 0 1

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