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Laboratorio de Genetica e Diagnostico Molecular (Hospital Israelita Albert Einstein), LABO-HIAE

General information

Laboratorio de Genetica e Diagnostico Molecular, LABO-HIAE
Hospital Israelita Albert Einstein
Avenida Albert Einstein, 627 Jardim Leonor, Sao Paulo
Sao Paulo
Sao Paulo
Brazil - 05652-900
https://www.einstein.br
Organization ID: 508506

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 3137

Gene

GeneSubmissionsLast Updated
ABCA121May 19, 2022
ABCA22May 11, 2022
ABCA52May 25, 2022
ABCA71May 11, 2022
ABCB44Oct 23, 2023
ABCC65Mar 1, 2023
ABCC81May 25, 2022
ABCD15Mar 1, 2023
ABHD121May 11, 2022
ABL11May 2, 2023
ABRAXAS11Jun 12, 2023
ACAD81Mar 1, 2023
ACAD91Mar 1, 2023
ACADM4May 25, 2022
ACADS4May 2, 2023
ACADSB1May 19, 2022
ACADVL2May 2, 2023
ACAN4Mar 1, 2023
ACBD51May 19, 2022
ACBD61May 11, 2022
ACP51Mar 1, 2023
ACTA11May 25, 2022
ACTB2Mar 1, 2023
ACTG12Mar 1, 2023
ACTG21May 11, 2022
ACTL6B2May 2, 2023
ACTN41May 25, 2022
ACVR11May 11, 2022
ACVRL11Mar 1, 2023
ADA1May 2, 2023
ADA22May 2, 2023
ADAM222May 2, 2023
ADAMTS183May 2, 2023
ADAMTS22May 19, 2022
ADAR1May 2, 2023
ADARB12Mar 1, 2023
ADCY33Mar 1, 2023
ADCY51Mar 1, 2023
ADGRV11May 25, 2022
ADNP4May 2, 2023
ADPRS2May 11, 2022
AFF21May 2, 2023
AFF42Mar 1, 2023
AFG2A1May 25, 2022
AGRN4May 25, 2022
AGXT1May 25, 2022
AHCY1May 25, 2022
AHDC13May 25, 2022
AICDA3Jun 6, 2023
AKT31May 25, 2022
ALDH18A12Mar 1, 2023
ALDH4A11May 19, 2022
ALDH6A11May 2, 2023
ALDH7A12May 19, 2022
ALDOA1May 25, 2022
ALDOB5May 2, 2023
ALG132Mar 1, 2023
ALG22May 25, 2022
ALG61May 25, 2022
ALG82May 25, 2022
ALG91May 25, 2022
ALKBH81May 19, 2022
ALMS14Mar 1, 2023
ALOX12B1Mar 1, 2023
ALPK11May 2, 2023
ALPL5May 2, 2023
ALS21May 11, 2022
ALX41May 19, 2022
AMER11May 2, 2023
AMT4Mar 1, 2023
ANGPT21Mar 1, 2023
ANK11May 25, 2022
ANK21May 11, 2022
ANK33May 2, 2023
ANKLE22May 25, 2022
ANKRD1110May 2, 2023
ANKRD171May 19, 2022
ANO51Mar 15, 2024
ANTXR23Dec 7, 2023
AP2M11May 25, 2022
AP3B21Mar 1, 2023
AP4M11Mar 1, 2023
AP4S11May 2, 2023
APC14May 2, 2023
APC22May 25, 2022
APOB1Dec 12, 2023
APOE1Mar 1, 2023
APP1May 25, 2022
APRT1May 19, 2022
APTX1Mar 1, 2023
AR2Mar 1, 2023
ARCN12May 25, 2022
ARFGEF21May 25, 2022
ARG12Mar 1, 2023
ARHGAP311May 11, 2022
ARHGEF12Mar 1, 2023
ARHGEF121May 2, 2023
ARID1B6Mar 1, 2023
ARID24Mar 1, 2023
ARMC91May 25, 2022
ARSA3Mar 1, 2023
ARSB2May 25, 2022
ARV11May 25, 2022
ARX3Mar 1, 2023
ASAH11May 25, 2022
ASCC11May 2, 2023
ASH1L10Mar 1, 2023
ASL1Mar 1, 2023
ASPM4May 2, 2023
ASS11May 19, 2022
ASTN21Mar 1, 2023
ASXL12Mar 1, 2023
ASXL22Mar 1, 2023
ASXL38May 2, 2023
ATM22Mar 1, 2023
ATN13May 25, 2022
ATP11A1Mar 1, 2023
ATP13A22May 25, 2022
ATP13A31Mar 1, 2023
ATP1A22May 2, 2023
ATP1A36Mar 1, 2023
ATP2A12May 19, 2022
ATP2B21May 2, 2023
ATP2B31May 19, 2022
ATP6AP12May 2, 2023
ATP6AP22Mar 1, 2023
ATP6V1B11Mar 1, 2023
ATP7A2May 25, 2022
ATP7B4Dec 12, 2023
ATPAF22Mar 1, 2023
ATR2Mar 1, 2023
ATRIP5Mar 1, 2023
ATRIP-TREX15Mar 1, 2023
ATRX8May 2, 2023
ATXN7L3-AS12Mar 1, 2023
AUTS26May 2, 2023
AXIN22May 2, 2023
B3GLCT2Mar 1, 2023
B4GALNT11May 11, 2022
B4GALT11May 2, 2023
BACH22Mar 1, 2023
BAP13Mar 1, 2023
BARD14Mar 1, 2023
BBOF11May 2, 2023
BBS13Mar 1, 2023
BBS102Mar 1, 2023
BBS22May 19, 2022
BBS71May 19, 2022
BCHE1May 25, 2022
BCKDHB2Mar 1, 2023
BCKDK1May 25, 2022
BCL11A1May 11, 2022
BCL11B1May 25, 2022
BCORL12May 19, 2022
BCS1L4May 25, 2022
BEST11May 25, 2022
BICD22Mar 1, 2023
BICRA1May 2, 2023
BIN11May 25, 2022
BIVM-ERCC51May 25, 2022
BLM2May 2, 2023
BLOC1S1-RDH51May 25, 2022
BLOC1S51May 2, 2023
BLOC1S5-TXNDC51May 2, 2023
BMP21Mar 1, 2023
BMP41May 2, 2023
BNAT11May 11, 2022
BPTF3May 25, 2022
BRAF3Mar 1, 2023
BRAT11May 2, 2023
BRCA119Dec 12, 2023
BRCA232Jan 24, 2024
BRD41May 2, 2023
BRIP16Mar 1, 2023
BRPF12May 25, 2022
BRWD31Mar 1, 2023
BSCL21May 19, 2022
BTD3Dec 12, 2023
BTK5Mar 1, 2023
BUB1B4Mar 1, 2023
BUB1B-PAK61May 25, 2022
C10orf1051Mar 1, 2023
C11orf657Mar 1, 2023
C12orf603May 2, 2023
C14orf391May 25, 2022
C17orf1071May 25, 2022
C19orf121Jun 6, 2023
C1QB1May 2, 2023
C2CD31May 19, 2022
C2orf491Jun 12, 2023
C32Mar 1, 2023
C61May 2, 2023
CACNA1A10Mar 1, 2023
CACNA1B3May 25, 2022
CACNA1C6Mar 1, 2023
CACNA1C-AS12Mar 1, 2023
CACNA1D4Mar 1, 2023
CACNA1E2May 2, 2023
CACNA1F1May 25, 2022
CACNA1G3May 2, 2023
CACNA1H4May 25, 2022
CACNA1I1May 2, 2023
CACNA1S2Mar 1, 2023
CACNA2D31May 25, 2022
CACNB21May 11, 2022
CAMK2A1May 2, 2023
CAMTA15May 2, 2023
CAPN12May 11, 2022
CAPN31May 19, 2022
CAPZA21May 25, 2022
CARD112May 2, 2023
CARD11-AS11May 11, 2022
CARD81Mar 1, 2023
CASK2May 2, 2023
CASP101May 25, 2022
CAV31May 25, 2022
CBLIF2Apr 5, 2023
CBS1May 11, 2022
CC2D2A3Mar 1, 2023
CCDC1032Mar 1, 2023
CCDC1341May 11, 2022
CCDC221Mar 1, 2023
CCDC321Mar 1, 2023
CCDC391Mar 1, 2023
CCDC402Mar 1, 2023
CCDC88A1May 11, 2022
CCDST11Mar 1, 2023
CCNH1May 19, 2022
CD3G1Mar 1, 2023
CD40LG3Mar 1, 2023
CD631May 25, 2022
CDC421May 11, 2022
CDC61May 19, 2022
CDCA71Mar 1, 2023
CDH13Mar 1, 2023
CDH111May 2, 2023
CDH152May 19, 2022
CDH21May 11, 2022
CDH233Mar 1, 2023
CDH31May 11, 2022
CDHR12Mar 1, 2023
CDK133May 25, 2022
CDK192May 19, 2022
CDK5RAP21May 11, 2022
CDK81Mar 1, 2023
CDKL54Mar 1, 2023
CDKN2A2Mar 1, 2023
CDON1May 19, 2022
CDT11May 2, 2023
CENPE1May 19, 2022
CENPJ2Mar 1, 2023
CENPO1Mar 1, 2023
CEP1041May 25, 2022
CEP1351May 25, 2022
CEP2902May 25, 2022
CERKL1May 25, 2022
CERT11May 11, 2022
CETP1May 25, 2022
CFAP921Mar 1, 2023
CFH1May 2, 2023
CFTR13Mar 1, 2023
CFTR-AS15Mar 1, 2023
CHCHD101May 25, 2022
CHD12Mar 1, 2023
CHD21May 19, 2022
CHD34Mar 1, 2023
CHD42May 25, 2022
CHD51Mar 1, 2023
CHD78Mar 1, 2023
CHD87May 2, 2023
CHEK25Mar 1, 2023
CHKB1May 25, 2022
CHKB-CPT1B1May 25, 2022
CHRNA11May 19, 2022
CHRNB11May 25, 2022
CHRNB21May 19, 2022
CHRNE2May 25, 2022
CHRNG1Mar 1, 2023
CHST141Mar 1, 2023
CHST32Mar 1, 2023
CIC4May 25, 2022
CLASP13Mar 1, 2023
CLCC11May 25, 2022
CLCF11May 25, 2022
CLCN24May 25, 2022
CLCN41May 25, 2022
CLCN51Mar 1, 2023
CLCN62May 2, 2023
CLCN73Mar 1, 2023
CLMP1Mar 1, 2023
CLN33Mar 1, 2023
CLN62May 25, 2022
CLN81May 25, 2022
CLRN11May 11, 2022
CLTC1Mar 1, 2023
CNGA11May 19, 2022
CNKSR22May 19, 2022
CNOT14May 2, 2023
CNOT31May 11, 2022
COA62May 25, 2022
COASY3May 25, 2022
COG21May 25, 2022
COG41May 25, 2022
COG61May 25, 2022
COG71May 11, 2022
COL11A17May 2, 2023
COL11A22May 25, 2022
COL12A13May 25, 2022
COL13A11May 25, 2022
COL17A12Mar 1, 2023
COL18A13Mar 1, 2023
COL1A19Mar 1, 2023
COL1A215Mar 1, 2023
COL27A11May 11, 2022
COL2A11May 11, 2022
COL3A12Mar 1, 2023
COL4A13Mar 1, 2023
COL4A31May 25, 2022
COL4A41May 2, 2023
COL4A54Mar 1, 2023
COL5A15Mar 1, 2023
COL5A21Mar 1, 2023
COL6A11Mar 1, 2023
COL6A23May 25, 2022
COL6A310Mar 1, 2023
COL7A117Oct 24, 2023
COL9A23May 25, 2022
COLEC101May 25, 2022
COLQ2May 19, 2022
COMP3Mar 1, 2023
COPA1Mar 1, 2023
COPB21Mar 1, 2023
COQ8A1May 25, 2022
COX151May 25, 2022
COX6A11May 19, 2022
CP1May 2, 2023
CPA11May 2, 2023
CPEB1-AS11Mar 1, 2023
CPLANE14Mar 1, 2023
CPT22May 2, 2023
CR23Mar 1, 2023
CRB11Mar 1, 2023
CRBN1May 19, 2022
CREBBP7May 2, 2023
CRPPA2Mar 1, 2023
CRTAP3Mar 1, 2023
CRYBB21Mar 1, 2023
CRYM1May 2, 2023
CSNK2A12May 2, 2023
CSNK2B2May 2, 2023
CTDP11May 19, 2022
CTLA42Mar 1, 2023
CTNNB12May 2, 2023
CTNS1May 19, 2022
CTNS-AS11May 19, 2022
CTSF1May 25, 2022
CTSK1Mar 1, 2023
CUBN3May 19, 2022
CUX12Mar 1, 2023
CUX24May 2, 2023
CXCR41May 2, 2023
CYB5R31Mar 1, 2023
CYBA1May 25, 2022
CYBB2May 2, 2023
CYP19A12Mar 1, 2023
CYP1B12Mar 1, 2023
CYP21A22Mar 1, 2023
CYP27A12Mar 1, 2023
CYP2U12May 25, 2022
DARS23Mar 1, 2023
DBT1May 25, 2022
DCAF81May 25, 2022
DCDC21May 11, 2022
DCTN12May 25, 2022
DDB11May 2, 2023
DDB21May 2, 2023
DDC2May 25, 2022
DDX3X3Mar 1, 2023
DEAF13Mar 1, 2023
DEPDC52May 25, 2022
DGAT12May 2, 2023
DGCR81May 19, 2022
DGUOK2May 2, 2023
DGUOK-AS12May 2, 2023
DHCR74May 25, 2022
DHDDS2May 25, 2022
DHX303May 2, 2023
DIAPH11May 25, 2022
DIP2C1May 25, 2022
DIPK1A1May 19, 2022
DLD1May 25, 2022
DLG41May 2, 2023
DLL13Mar 1, 2023
DMD3Mar 1, 2023
DMXL23May 25, 2022
DNAAF42Mar 1, 2023
DNAAF4-CCPG12Mar 1, 2023
DNAH113Mar 1, 2023
DNAH52Mar 1, 2023
DNAI11Mar 1, 2023
DNAJC211Mar 1, 2023
DNM13Mar 1, 2023
DNM1L4May 2, 2023
DNM21May 25, 2022
DNMT3A2Mar 1, 2023
DNMT3B3Mar 1, 2023
DOCK23May 25, 2022
DOCK61May 25, 2022
DOCK82Mar 1, 2023
DOK72May 25, 2022
DPYD1May 25, 2022
DPYS3Mar 1, 2023
DPYSL52Mar 1, 2023
DSC21May 25, 2022
DSE1May 19, 2022
DSG23Dec 12, 2023
DSG2-AS11Dec 12, 2023
DUOX22May 19, 2022
DVL33Mar 1, 2023
DYNC1H19May 2, 2023
DYNC2I12May 19, 2022
DYRK1A1May 25, 2022
DYSF3May 25, 2022
EBF33May 19, 2022
EBP1May 19, 2022
ECEL14May 25, 2022
ECHS17Mar 1, 2023
EDA3Mar 1, 2023
EEF1A22Mar 1, 2023
EEF1E1-BLOC1S51May 2, 2023
EFCAB101Mar 1, 2023
EFNB11May 25, 2022
EFTUD24Mar 1, 2023
EGFR3May 25, 2022
EHHADH1Mar 1, 2023
EHMT17May 2, 2023
EIF2B22May 19, 2022
EIF2B31May 25, 2022
EIF2B51May 25, 2022
ELANE2Mar 1, 2023
ELMO21May 11, 2022
ELMOD31May 2, 2023
ELN2May 19, 2022
ELP21May 25, 2022
EMC11May 25, 2022
EMC1-AS11May 25, 2022
EMD1May 19, 2022
ENG1Mar 1, 2023
EP3006May 2, 2023
EP4001May 19, 2022
EPCAM1Mar 1, 2023
EPG51Mar 1, 2023
EPHB41May 25, 2022
EPRS11May 25, 2022
ERBB43May 2, 2023
ERCC11May 11, 2022
ERCC22Mar 1, 2023
ERCC31Mar 1, 2023
ERCC42May 11, 2022
ERCC51May 25, 2022
ERCC62May 2, 2023
ERF1May 19, 2022
ERMARD1May 25, 2022
ETFA1Mar 1, 2023
ETFDH1Mar 1, 2023
ETHE11May 11, 2022
ETV61May 25, 2022
EVC3Mar 1, 2023
EXOC71May 19, 2022
EXOSC32Mar 1, 2023
EXOSC91May 25, 2022
EXT12May 2, 2023
EXT21May 2, 2023
EYS1May 25, 2022
F21Mar 1, 2023
F71May 25, 2022
F82May 19, 2022
FA2H1May 25, 2022
FAH1May 11, 2022
FAM20C1May 11, 2022
FANCA7Mar 1, 2023
FANCD21May 25, 2022
FANCE1May 25, 2022
FANCG1May 11, 2022
FANCL1May 19, 2022
FANCM2Mar 1, 2023
FARS21May 25, 2022
FAS1May 25, 2022
FASTKD22May 11, 2022
FAT41May 25, 2022
FBLN51May 25, 2022
FBN111Dec 12, 2023
FBN24Mar 1, 2023
FBN31May 25, 2022
FBXO116May 2, 2023
FECH1May 25, 2022
FGFR13Mar 1, 2023
FGFR23Mar 1, 2023
FGFR33Mar 1, 2023
FHL21Jun 12, 2023
FIG42May 2, 2023
FKBP104Mar 1, 2023
FKTN2May 25, 2022
FLCN1Mar 1, 2023
FLG11Mar 1, 2023
FLNA5May 25, 2022
FLNB2Mar 1, 2023
FLT41May 11, 2022
FMO33May 19, 2022
FMR11May 19, 2022
FN11Mar 1, 2023
FOXC11May 19, 2022
FOXG11May 19, 2022
FOXL22May 2, 2023
FOXN12Mar 1, 2023
FOXP13Mar 1, 2023
FOXP31Mar 1, 2023
FPGT-TNNI3K1May 11, 2022
FRMPD42Mar 1, 2023
FRRS1L1Mar 1, 2023
FTO1May 25, 2022
FUT82May 25, 2022
FXR11May 11, 2022
FZD21May 25, 2022
G6PD1Mar 1, 2023
GAA5Jan 30, 2024
GABBR22May 2, 2023
GABRB22May 25, 2022
GABRB31Mar 1, 2023
GABRD2May 2, 2023
GABRG22Mar 1, 2023
GALC8Mar 1, 2023
GALE2Mar 1, 2023
GALK11May 11, 2022
GALT3Jan 6, 2023
GAMT2Mar 1, 2023
GAN2May 11, 2022
GAREM22May 25, 2022
GATA11Mar 1, 2023
GATA21Mar 1, 2023
GATA61Mar 1, 2023
GATAD2B2May 2, 2023
GBA12May 25, 2022
GBA21May 25, 2022
GBE13May 25, 2022
GCDH3Mar 1, 2023
GCH13Mar 1, 2023
GCK1Mar 1, 2023
GCNT21May 11, 2022
GDAP11Mar 1, 2023
GDF52Mar 1, 2023
GDF5-AS12Mar 1, 2023
GDI11May 11, 2022
GFAP2May 2, 2023
GFM11May 25, 2022
GFM21May 25, 2022
GH-LCR3Mar 1, 2023
GH11Mar 1, 2023
GHR1May 25, 2022
GHSR2Mar 1, 2023
GIGYF22May 25, 2022
GINS11May 25, 2022
GJB24Mar 1, 2023
GJB31May 11, 2022
GJB61Mar 1, 2023
GJC21May 11, 2022
GLA1Mar 1, 2023
GLB15Mar 1, 2023
GLDC2May 25, 2022
GLE11Jun 6, 2023
GLI24Mar 1, 2023
GLI31May 11, 2022
GLMN1May 19, 2022
GLUD11May 2, 2023
GLUD21May 25, 2022
GMPPB2Mar 1, 2023
GNAI11Mar 1, 2023
GNAO11May 25, 2022
GNAS2Mar 1, 2023
GNB13May 25, 2022
GNE3May 2, 2023
GNG12-AS11May 2, 2023
GNPAT1May 2, 2023
GNPTAB1Mar 1, 2023
GNRHR1May 2, 2023
GPAA13Mar 1, 2023
GPSM21May 25, 2022
GRHL21May 2, 2023
GRIA22May 19, 2022
GRIA42Mar 1, 2023
GRID21May 25, 2022
GRIK21May 25, 2022
GRIN12May 2, 2023
GRIN2A4Mar 1, 2023
GRIN2B3May 25, 2022
GRIN2D2Mar 1, 2023
GRIP11May 11, 2022
GRM12May 25, 2022
GSC1May 25, 2022
GSDME1May 2, 2023
GSS1Mar 21, 2024
GTPBP21May 25, 2022
GUCY1A11May 19, 2022
GUCY2C2May 2, 2023
GUCY2C-AS11May 2, 2023
GYS22May 25, 2022
H4C51May 2, 2023
HAAO1May 11, 2022
HABP21May 11, 2022
HADHA2May 25, 2022
HADHB1Jun 6, 2023
HARS11May 11, 2022
HBB4Mar 1, 2023
HCFC12May 2, 2023
HCN21May 2, 2023
HCN41May 2, 2023
HDAC42May 2, 2023
HDAC81Jul 28, 2023
HECW27May 2, 2023
HERC15Mar 1, 2023
HERC26Mar 1, 2023
HEXA3May 2, 2023
HEXB3Mar 1, 2023
HFE2Dec 12, 2023
HFE-AS11Dec 12, 2023
HIBCH1May 25, 2022
HIVEP212Mar 1, 2023
HLCS1May 2, 2023
HMGCL1Mar 1, 2023
HMMR2Mar 1, 2023
HMMR-AS12Mar 1, 2023
HNF4A1May 11, 2022
HNRNPA2B11May 2, 2023
HNRNPU4May 2, 2023
HNRNPUL2-BSCL21May 19, 2022
HPDL1May 11, 2022
HPRT11Mar 1, 2023
HPS61May 2, 2023
HSD17B101May 25, 2022
HSD17B41May 11, 2022
HSF41Mar 1, 2023
HSPG24Mar 1, 2023
HTR1A1May 2, 2023
HTRA11May 25, 2022
HTT1May 25, 2022
HUWE13Mar 1, 2023
HYDIN1Mar 1, 2023
HYLS11May 11, 2022
HYOU12Mar 1, 2023
IDS4May 2, 2023
IDUA2Jan 3, 2024
IFIH14May 25, 2022
IFITM51May 11, 2022
IFNAR11Mar 1, 2023
IFNAR21May 11, 2022
IFNAR2-IL10RB2Mar 1, 2023
IFNGR11Mar 1, 2023
IFT1402May 25, 2022
IFT522May 11, 2022
IGHMBP21May 25, 2022
IKBKB1May 25, 2022
IKBKG1Mar 1, 2023
IKZF13Mar 1, 2023
IKZF32Mar 1, 2023
IL10RB1Mar 1, 2023
IL17F1Mar 1, 2023
IL17RA3May 25, 2022
IL21R1May 11, 2022
IL2RA1May 11, 2022
IL2RG1May 11, 2022
IL6R1May 11, 2022
IL6ST1May 2, 2023
IL7R2May 11, 2022
INAVA1May 19, 2022
INPP5K1May 25, 2022
INSR1May 25, 2022
INTS11May 25, 2022
IQCB11May 25, 2022
IQSEC24May 2, 2023
IRAK1BP11May 11, 2022
IRF2BP23Jun 6, 2023
IRF2BPL4Mar 1, 2023
IRF51Mar 1, 2023
IRF81May 25, 2022
ISG151Mar 1, 2023
ITCH1May 25, 2022
ITGB23Mar 1, 2023
ITGB31May 19, 2022
ITPR13May 25, 2022
IVD1Mar 1, 2023
JAG13Mar 1, 2023
JAK32Jan 30, 2024
JMJD1C1May 25, 2022
KANSL11May 19, 2022
KAT51May 2, 2023
KAT6A3May 25, 2022
KAT6B6May 2, 2023
KATNIP1May 25, 2022
KBTBD131May 19, 2022
KCNA11May 25, 2022
KCNA21May 25, 2022
KCNB14Mar 1, 2023
KCNC21Mar 1, 2023
KCND31May 11, 2022
KCNH12May 25, 2022
KCNH22May 11, 2022
KCNJ101May 11, 2022
KCNJ51May 25, 2022
KCNJ61Mar 1, 2023
KCNK41May 19, 2022
KCNK4-CATSPERZ1May 19, 2022
KCNMA13May 19, 2022
KCNMA1-AS11May 11, 2022
KCNN31Mar 1, 2023
KCNQ24Mar 1, 2023
KCNQ31Mar 1, 2023
KCNT18May 2, 2023
KCNT22May 11, 2022
KDELR21May 11, 2022
KDM3B3May 2, 2023
KDM4B4May 2, 2023
KDM5B2May 25, 2022
KDM5C1May 11, 2022
KDM6A1May 2, 2023
KDM6B5May 2, 2023
KIDINS2201May 11, 2022
KIF1A2May 25, 2022
KIF222May 25, 2022
KIRREL31May 2, 2023
KIT3Mar 1, 2023
KLC11May 2, 2023
KLC21Jun 12, 2023
KLF9-DT1May 11, 2022
KLHL241May 11, 2022
KLLN2May 11, 2022
KMT2A9Mar 1, 2023
KMT2B2Mar 1, 2023
KMT2C7May 2, 2023
KMT2D11May 2, 2023
KMT2E2Mar 1, 2023
KMT5B3May 25, 2022
KNG11Mar 1, 2023
KPTN1May 25, 2022
KRAS1Mar 1, 2023
KRIT11May 19, 2022
KRT101Mar 1, 2023
KRT10-AS11Mar 1, 2023
KRT142Mar 1, 2023
KRT51May 2, 2023
L1CAM3May 25, 2022
L2HGDH1May 2, 2023
LAMA11May 25, 2022
LAMA28Jun 12, 2023
LAMB11May 11, 2022
LAMB34Mar 1, 2023
LAMC31May 25, 2022
LAS1L1May 19, 2022
LDLR5Jan 30, 2024
LGI11May 11, 2022
LHCGR4May 2, 2023
LHX41May 11, 2022
LHX4-AS11May 11, 2022
LIG12Mar 1, 2023
LIG42May 2, 2023
LINS11Mar 1, 2023
LMNA1Dec 12, 2023
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LNPK1Mar 1, 2023
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LONP11May 25, 2022
LONP21May 2, 2023
LORICRIN1May 2, 2023
LPIN12May 25, 2022
LPIN21May 25, 2022
LPL1Mar 1, 2023
LRBA9Mar 1, 2023
LRP53May 11, 2022
LRRC8A1May 25, 2022
LTBP31May 11, 2022
LTBP41May 2, 2023
LYST2May 11, 2022
LZTR17May 2, 2023
MACF14Mar 1, 2023
MADD2May 11, 2022
MAF2May 25, 2022
MAGEL23Mar 1, 2023
MAGI21May 11, 2022
MAGI2-AS31May 11, 2022
MAK1Mar 1, 2023
MAN1B12Mar 1, 2023
MAOA1May 25, 2022
MAP1B1Jun 6, 2023
MAP2K21May 11, 2022
MAP3K201May 25, 2022
MAP3K20-AS11May 25, 2022
MAP3K71May 25, 2022
MAPK101May 2, 2023
MAPK8IP34May 2, 2023
MAST11May 25, 2022
MASTL1May 11, 2022
MAX1Mar 1, 2023
MBD57May 25, 2022
MBTPS11May 25, 2022
MCCC11May 2, 2023
MCCC21May 19, 2022
MCOLN11May 19, 2022
MCPH11Mar 1, 2023
MEA11May 25, 2022
MECP29Mar 1, 2023
MED126May 2, 2023
MED12L3Mar 1, 2023
MED132May 2, 2023
MED13L5Mar 1, 2023
MED232Mar 1, 2023
MED252Mar 1, 2023
MEFV6Mar 1, 2023
MEIS22May 11, 2022
MEN12Mar 1, 2023
MET2May 2, 2023
MFF-DT1May 25, 2022
MID11May 2, 2023
MID21May 2, 2023
MIR4713HG2Mar 1, 2023
MIR60841May 25, 2022
MIR68481May 2, 2023
MITF1Mar 1, 2023
MKKS1May 11, 2022
MKRN31Mar 1, 2023
MLC12Mar 1, 2023
MLH18Mar 1, 2023
MLH32May 2, 2023
MLYCD1May 25, 2022
MMAA2May 19, 2022
MMACHC7Mar 1, 2023
MMADHC2Mar 1, 2023
MME1May 25, 2022
MMUT4Mar 1, 2023
MN11May 19, 2022
MNX11May 11, 2022
MNX1-AS21May 11, 2022
MOCS11May 2, 2023
MORC22Mar 1, 2023
MPEG12May 2, 2023
MPI3May 2, 2023
MPZ1Mar 1, 2023
MRE112May 25, 2022
MRPS71May 25, 2022
MS4A11May 2, 2023
MSH214Dec 12, 2023
MSH33Mar 1, 2023
MSH617Dec 12, 2023
MSR11Mar 1, 2023
MSTO12May 25, 2022
MT-TL11May 11, 2022
MTFMT2May 2, 2023
MTHFD12Mar 1, 2023
MTHFR3May 25, 2022
MTM11May 19, 2022
MTO11May 2, 2023
MTR3May 25, 2022
MTTP1Mar 1, 2023
MUC11May 19, 2022
MUTYH7Dec 12, 2023
MVK6May 2, 2023
MVP-DT2May 2, 2023
MYBPC33Dec 12, 2023
MYH101May 19, 2022
MYH141May 25, 2022
MYH22Dec 14, 2023
MYH32Mar 1, 2023
MYH61May 11, 2022
MYH74Dec 12, 2023
MYH91Mar 1, 2023
MYHAS2Dec 14, 2023
MYL21Dec 12, 2023
MYLK1May 25, 2022
MYLK22May 2, 2023
MYMK1May 25, 2022
MYO18B1May 25, 2022
MYO1E3Mar 1, 2023
MYO5B1Mar 1, 2023
MYO61Mar 1, 2023
MYO7A3May 25, 2022
MYO9A2May 19, 2022
MYORG1May 19, 2022
MYPN1May 25, 2022
MYT1L1May 25, 2022
NAA102Mar 1, 2023
NAA154May 19, 2022
NADSYN11May 11, 2022
NAGA1May 25, 2022
NAGLU2Mar 1, 2023
NALCN3May 25, 2022
NARS12Mar 1, 2023
NARS22Mar 1, 2023
NAV21May 25, 2022
NAXD2May 25, 2022
NBAS3May 11, 2022
NBEA7Mar 1, 2023
NBN2Mar 1, 2023
NCAPD21Mar 1, 2023
NDE11Mar 1, 2023
NDP1May 11, 2022
NDP-AS11May 11, 2022
NDUFA101May 25, 2022
NDUFAF52Mar 1, 2023
NDUFAF61May 25, 2022
NDUFS13May 25, 2022
NDUFS31Mar 1, 2023
NDUFS81May 25, 2022
NDUFV12May 25, 2022
NEB9Mar 1, 2023
NECAP11Mar 1, 2023
NEK81May 11, 2022
NEK91May 11, 2022
NEXMIF2Mar 1, 2023
NEXN1May 25, 2022
NF116May 2, 2023
NFE2L21May 11, 2022
NFIB1May 2, 2023
NFIX4May 2, 2023
NFKB13Mar 1, 2023
NFKB23Mar 1, 2023
NFKBIA1May 11, 2022
NHLH11Mar 1, 2023
NHLRC21May 25, 2022
NHS2May 25, 2022
NICN11May 11, 2022
NIPA11May 25, 2022
NIPAL41May 11, 2022
NIPBL6May 2, 2023
NKAP1Jul 28, 2023
NLGN11May 25, 2022
NLGN31May 19, 2022
NLRC43May 2, 2023
NLRP12May 2, 2023
NLRP125May 2, 2023
NLRP31Mar 1, 2023
NMNAT11May 11, 2022
NNT1May 25, 2022
NOD23May 2, 2023
NOTCH11Mar 1, 2023
NOTCH22May 25, 2022
NOTCH31May 19, 2022
NPC13May 2, 2023
NPC21May 11, 2022
NPHP31May 19, 2022
NPHP3-ACAD111May 19, 2022
NPHS11May 25, 2022
NPR21May 2, 2023
NR1H41May 11, 2022
NR2E31May 11, 2022
NRAS1May 11, 2022
NRROS3May 2, 2023
NRXN12May 25, 2022
NSD18Mar 1, 2023
NSUN21May 25, 2022
NSUN61May 11, 2022
NTHL12May 2, 2023
NTRK22Mar 1, 2023
NUBPL1May 25, 2022
OBSL11May 11, 2022
OCA21May 25, 2022
OCRL3Mar 1, 2023
OFD11Mar 1, 2023
OPA15Apr 5, 2023
OPHN11May 25, 2022
OSBPL21Mar 1, 2023
OSGEP1May 25, 2022
OTC1Dec 12, 2023
OTOF1May 2, 2023
OTOGL1May 25, 2022
OTUD51May 19, 2022
OXTR1May 25, 2022
P3H13Mar 1, 2023
P3H22Mar 1, 2023
PACS11May 19, 2022
PAH13Jan 30, 2024
PALB217Mar 1, 2023
PANK24May 25, 2022
PAX22Mar 1, 2023
PAX61May 25, 2022
PC1Mar 1, 2023
PCCA3May 19, 2022
PCDH122Mar 1, 2023
PCDH151May 19, 2022
PCLO1May 2, 2023
PCNT3May 25, 2022
PCYT1A1Mar 1, 2023
PDCD101Mar 1, 2023
PDE11A1May 25, 2022
PDE2A3May 19, 2022
PDE4D1Jun 6, 2023
PDGFRA1Mar 1, 2023
PDGFRB2May 25, 2022
PDHA11May 25, 2022
PDSS11May 19, 2022
PDSS21May 2, 2023
PDZD91May 11, 2022
PEPD1May 11, 2022
PEX11May 19, 2022
PEX11B1May 25, 2022
PEX21May 25, 2022
PEX261May 2, 2023
PEX61May 11, 2022
PGAP11May 25, 2022
PGAP31May 11, 2022
PGGHG1May 11, 2022
PGK11May 11, 2022
PGM11Mar 1, 2023
PHF21A3Mar 1, 2023
PHF63May 25, 2022
PHF82Mar 1, 2023
PHGDH1May 25, 2022
PHIP2May 25, 2022
PHKA11Mar 1, 2023
PHKA25Mar 1, 2023
PHKB4Mar 1, 2023
PHKG21Mar 1, 2023
PIBF12Jul 28, 2023
PIEZO11May 11, 2022
PIEZO28May 2, 2023
PIGA1May 19, 2022
PIGG3May 2, 2023
PIGM1May 19, 2022
PIGN1Mar 1, 2023
PIGO1Mar 1, 2023
PIGP2May 25, 2022
PIGT1Mar 1, 2023
PIK3CD3Mar 1, 2023
PIK3R11May 11, 2022
PINK12May 25, 2022
PINK1-AS1May 25, 2022
PIRC662Mar 1, 2023
PKD12Mar 1, 2023
PKD1-AS12Mar 1, 2023
PKD21May 2, 2023
PKHD14Mar 1, 2023
PKLR3Mar 1, 2023
PLA2G66Mar 1, 2023
PLA2G71May 2, 2023
PLCB11May 25, 2022
PLCE15May 2, 2023
PLCG22Mar 1, 2023
PLD31May 11, 2022
PLEC6May 2, 2023
PLK41May 25, 2022
PLOD13Mar 1, 2023
PLP12Mar 1, 2023
PMM25Mar 1, 2023
PMPCB1May 19, 2022
PMS23Dec 12, 2023
PNPLA21May 19, 2022
PNPT11May 25, 2022
POC1A1May 25, 2022
POGZ5May 2, 2023
POLA11May 25, 2022
POLD15May 2, 2023
POLE5Mar 1, 2023
POLG8Apr 26, 2023
POLGARF8Apr 26, 2023
POLH2Mar 1, 2023
POLR1A2May 2, 2023
POLR1B1Mar 1, 2023
POLR1C3Mar 1, 2023
POLR2A4May 25, 2022
POLR3A2Mar 1, 2023
POLR3B7May 25, 2022
POMGNT11May 11, 2022
POMT21May 19, 2022
POR2Mar 1, 2023
POT11May 2, 2023
POU3F32May 2, 2023
PPM1D1May 25, 2022
PPOX2May 25, 2022
PPP2R5D2May 25, 2022
PPP3CA2May 25, 2022
PPT11May 11, 2022
PQBP11May 25, 2022
PRCC1Mar 1, 2023
PRDM161May 25, 2022
PREPL1May 19, 2022
PRF12May 25, 2022
PRG43Mar 1, 2023
PRKCD1May 19, 2022
PRKCG1May 25, 2022
PRKCSH1May 19, 2022
PRKDC1May 25, 2022
PRKN1Mar 1, 2023
PRRT22May 2, 2023
PRX1May 11, 2022
PSEN11May 11, 2022
PSEN21May 2, 2023
PSMB82May 25, 2022
PSMB91Mar 1, 2023
PSMD121May 19, 2022
PSTPIP12Mar 1, 2023
PTCD31May 25, 2022
PTCH17Mar 1, 2023
PTCH23Jun 12, 2023
PTCHD11May 19, 2022
PTDSS11May 25, 2022
PTEN8Mar 1, 2023
PTH1R1May 25, 2022
PTPN118Mar 1, 2023
PTPRC1May 25, 2022
PTPRQ1May 25, 2022
PUF603Mar 1, 2023
PUM11May 19, 2022
PURA2Mar 1, 2023
PUS31May 11, 2022
PUS72Mar 1, 2023
PYCR21Mar 1, 2023
PYGM2May 25, 2022
QARS11Mar 1, 2023
RAB11B1May 11, 2022
RAB27A2May 25, 2022
RAB3GAP23Mar 1, 2023
RAB9B2Mar 1, 2023
RAC11Mar 1, 2023
RAC32Mar 1, 2023
RAD211May 19, 2022
RAD505Mar 1, 2023
RAD51C1Mar 1, 2023
RAD51D4Mar 1, 2023
RAD51L3-RFFL4Mar 1, 2023
RAD54L3Mar 1, 2023
RAF12Mar 1, 2023
RAG11Mar 1, 2023
RAG21Mar 1, 2023
RAI13May 2, 2023
RALGAPA11May 19, 2022
RANBP171May 19, 2022
RANBP23Mar 1, 2023
RASA11May 19, 2022
RASGRP11Mar 1, 2023
RAX1Mar 1, 2023
RB12Mar 1, 2023
RBBP81May 11, 2022
RBCK12May 25, 2022
RBMX1May 11, 2022
RDH51May 25, 2022
RECQL44May 2, 2023
REEP21May 25, 2022
RELN6Mar 1, 2023
RERE7May 25, 2022
RET5Dec 12, 2023
RFXANK1May 11, 2022
RHOBTB21May 19, 2022
RIF14Mar 1, 2023
RINT11Mar 1, 2023
RIPK14Mar 1, 2023
RNASEH2A2Mar 1, 2023
RNASEH2B1May 11, 2022
RNF113A1May 25, 2022
RNF142Mar 1, 2023
RNF1681May 25, 2022
RNF2132May 19, 2022
RNF213-AS11May 19, 2022
RNF431Mar 1, 2023
RNU4ATAC3Mar 1, 2023
ROR21May 11, 2022
RORA1May 19, 2022
RORA-AS11May 19, 2022
RORB1May 11, 2022
RPGRIP11Mar 1, 2023
RPGRIP1L1May 25, 2022
RPL101May 19, 2022
RPL111Mar 1, 2023
RPL271May 11, 2022
RPL36A-HNRNPH21Mar 1, 2023
RPL51May 19, 2022
RPS6KA33Mar 1, 2023
RREB11May 25, 2022
RSPH11May 11, 2022
RTN21May 2, 2023
RTN4IP13Mar 1, 2023
RTTN1Jun 12, 2023
RUNX21Mar 1, 2023
RYR113Dec 12, 2023
SACS3May 25, 2022
SALL11May 11, 2022
SALL41May 11, 2022
SAMD121May 19, 2022
SAMD9L3Mar 1, 2023
SAMHD11May 19, 2022
SARS11May 19, 2022
SATB11Mar 1, 2023
SATB21May 25, 2022
SBDS2Mar 1, 2023
SBF12May 25, 2022
SCARB21Mar 1, 2023
SCN11A1May 25, 2022
SCN1A10May 2, 2023
SCN1A-AS11May 25, 2022
SCN1B1May 25, 2022
SCN2A9Mar 1, 2023
SCN3A4Mar 1, 2023
SCN4A4May 2, 2023
SCN5A4Dec 12, 2023
SCN8A8Mar 1, 2023
SCN9A1May 25, 2022
SDHA2May 2, 2023
SDHAF21Mar 1, 2023
SDHB2May 11, 2022
SDHD1May 11, 2022
SEC23B2Mar 1, 2023
SELENOI1May 11, 2022
SELENON1May 19, 2022
SERAC11Mar 1, 2023
SERPINA12Mar 1, 2023
SERPINC11May 11, 2022
SERPING11May 11, 2022
SERPINH11Mar 1, 2023
SET2Mar 1, 2023
SETBP12May 2, 2023
SETD1A2Mar 1, 2023
SETD1B2Mar 1, 2023
SETD23Mar 1, 2023
SETD53Mar 1, 2023
SETX4May 25, 2022
SGCA1May 25, 2022
SH3BP21May 25, 2022
SH3PXD2B1Mar 1, 2023
SHANK24May 25, 2022
SHANK35Mar 1, 2023
SHOC22Mar 1, 2023
SHROOM42May 25, 2022
SIAH11May 2, 2023
SIL11May 25, 2022
SIN3A2May 11, 2022
SIX12Mar 1, 2023
SIX61May 25, 2022
SKI4May 2, 2023
SLC12A21May 19, 2022
SLC12A52May 25, 2022
SLC12A61May 25, 2022
SLC13A51May 25, 2022
SLC16A21May 19, 2022
SLC19A32Mar 1, 2023
SLC1A22Mar 1, 2023
SLC22A52May 19, 2022
SLC25A201May 25, 2022
SLC25A241May 11, 2022
SLC25A261May 2, 2023
SLC26A21Mar 1, 2023
SLC26A31Mar 1, 2023
SLC26A5-AS12May 25, 2022
SLC2A13Mar 1, 2023
SLC30A91May 25, 2022
SLC35A23May 25, 2022
SLC35C11May 25, 2022
SLC37A42May 19, 2022
SLC39A81May 25, 2022
SLC3A12May 25, 2022
SLC40A11May 11, 2022
SLC46A12Mar 1, 2023
SLC5A12Mar 1, 2023
SLC5A21May 25, 2022
SLC6A11Mar 1, 2023
SLC6A171May 19, 2022
SLC6A31May 25, 2022
SLC6A51Mar 1, 2023
SLC6A81May 25, 2022
SLC7A92Mar 1, 2023
SLC9A11May 11, 2022
SLC9A72May 11, 2022
SLC9A91Mar 1, 2023
SLX41May 2, 2023
SMAD32Mar 1, 2023
SMAD42Mar 1, 2023
SMAD61May 11, 2022
SMAD71May 2, 2023
SMARCA21Mar 1, 2023
SMARCA42May 2, 2023
SMARCAL11May 25, 2022
SMARCB11May 25, 2022
SMARCC25May 2, 2023
SMC1A1Mar 1, 2023
SMC31May 25, 2022
SMCHD12May 2, 2023
SMPD12Mar 1, 2023
SNHG144May 2, 2023
SOCS11Mar 1, 2023
SOD11May 25, 2022
SON6Mar 1, 2023
SORD1Mar 1, 2023
SOS12Mar 1, 2023
SOS21May 25, 2022
SOST1Mar 1, 2023
SOX112Mar 1, 2023
SOX22Mar 1, 2023
SOX2-OT2Mar 1, 2023
SOX41May 19, 2022
SOX52Mar 1, 2023
SOX61May 19, 2022
SP1101Mar 1, 2023
SP1401Mar 1, 2023
SPAST5Mar 1, 2023
SPEN7Mar 1, 2023
SPG114May 19, 2022
SPG71May 2, 2023
SPINK51Mar 1, 2023
SPTA12Mar 1, 2023
SPTAN14Mar 1, 2023
SPTB1May 11, 2022
SPTBN12May 2, 2023
SPTBN25May 25, 2022
SQSTM15May 2, 2023
SRCAP5May 25, 2022
SRPRA1May 19, 2022
SRPX21May 19, 2022
SRY1Mar 1, 2023
ST3GAL31May 11, 2022
STAG23May 2, 2023
STAT13Mar 1, 2023
STAT33May 2, 2023
STAT41Mar 1, 2023
STAT5B2Mar 1, 2023
STEAP31May 25, 2022
STIM11Jun 6, 2023
STK115May 2, 2023
STON1-GTF2A1L4May 2, 2023
STS1May 11, 2022
STT3A1May 2, 2023
STUB11Mar 1, 2023
STX111May 2, 2023
STX1B1Mar 1, 2023
STXBP15Mar 1, 2023
STXBP31Jun 12, 2023
SUMF12May 25, 2022
SUPT16H1May 2, 2023
SURF13Mar 1, 2023
SYK1May 11, 2022
SYN11May 2, 2023
SYNE11May 19, 2022
SYNE22May 25, 2022
SYNGAP17Mar 1, 2023
SYNGAP1-AS17Mar 1, 2023
TAB22Mar 1, 2023
TAF11May 2, 2023
TALDO11May 25, 2022
TANC24May 2, 2023
TANGO22May 25, 2022
TAOK22May 25, 2022
TAPBPL1Mar 1, 2023
TARDBP1May 25, 2022
TASP11May 11, 2022
TBC1D241May 11, 2022
TBC1D2B1May 11, 2022
TBCD6Mar 1, 2023
TBCE1May 25, 2022
TBCK2Mar 1, 2023
TBK11May 25, 2022
TBR15May 2, 2023
TBX181May 19, 2022
TBX21May 2, 2023
TBX63Mar 1, 2023
TCF121Mar 1, 2023
TCF205Mar 1, 2023
TCF31May 25, 2022
TCF44May 2, 2023
TCOF11Mar 1, 2023
TECPR22May 25, 2022
TENT5A1May 11, 2022
TERT2May 11, 2022
TET32May 2, 2023
TFE31May 19, 2022
TFG1May 25, 2022
TG1Mar 1, 2023
TGFBR13May 19, 2022
TGFBR21Mar 1, 2023
TGM61May 25, 2022
THOC21May 19, 2022
TIMMDC11May 25, 2022
TINF21May 25, 2022
TJP21Mar 1, 2023
TK21Mar 1, 2023
TKT1May 19, 2022
TLK11Jun 12, 2023
TLK21May 2, 2023
TLR21May 2, 2023
TMC11May 2, 2023
TMEM106B1May 19, 2022
TMEM1271May 2, 2023
TMEM431May 25, 2022
TMEM63A1May 19, 2022
TMEM672May 11, 2022
TNFAIP33Mar 1, 2023
TNFRSF13B9Mar 1, 2023
TNFRSF1A3Mar 1, 2023
TNIK1May 19, 2022
TNNI21May 11, 2022
TNNI3K1May 11, 2022
TNNT21May 2, 2023
TNRC6B2May 2, 2023
TNXB6Jan 9, 2024
TOE12May 19, 2022
TOM11May 2, 2023
TOP3A1May 19, 2022
TOR1A2Jun 6, 2023
TP537Dec 12, 2023
TP631Mar 1, 2023
TPM11May 19, 2022
TPM31Mar 1, 2023
TRAF72Mar 1, 2023
TRAPPC122May 25, 2022
TRAPPC2L1May 2, 2023
TRAPPC41May 11, 2022
TRDN1May 2, 2023
TREX15Mar 1, 2023
TRIM321Mar 1, 2023
TRIM371May 25, 2022
TRIM711May 11, 2022
TRIO9May 2, 2023
TRIOBP1May 25, 2022
TRIP122May 25, 2022
TRIT11May 25, 2022
TRMT10A1May 19, 2022
TRMT10C1May 25, 2022
TRPM31May 11, 2022
TRPM61May 2, 2023
TRPM71May 11, 2022
TRPV43May 25, 2022
TRRAP7Mar 1, 2023
TSC11May 19, 2022
TSC23Mar 1, 2023
TSFM2May 25, 2022
TSHR1May 2, 2023
TSPAN71May 11, 2022
TTC21B1May 19, 2022
TTC21B-AS11May 19, 2022
TTC7A1May 25, 2022
TTN27Dec 12, 2023
TTN-AS117Dec 12, 2023
TTR2Dec 12, 2023
TUBA1A1Mar 1, 2023
TUBB2A2May 25, 2022
TUBB31May 25, 2022
TUBB4A2Mar 1, 2023
TUBGCP41May 19, 2022
TUBGCP61May 25, 2022
TWNK1May 25, 2022
TYK21May 11, 2022
UBE3A4May 2, 2023
UBTF2Mar 1, 2023
UNC1191May 25, 2022
UNC13D4May 25, 2022
UNC45A2May 19, 2022
UNC803May 25, 2022
UQCRC21May 11, 2022
UROD1May 11, 2022
UROS1May 11, 2022
USH1C1May 25, 2022
USH2A5Mar 1, 2023
USH2A-AS21Mar 1, 2023
USP72May 2, 2023
USP9X1Mar 1, 2023
VAMP11Mar 1, 2023
VARS13May 19, 2022
VARS24Mar 1, 2023
VHL4Dec 12, 2023
VLDLR2May 19, 2022
VMA211May 19, 2022
VPS13A4May 19, 2022
VPS13B1May 19, 2022
VPS33B2Mar 1, 2023
VPS411May 2, 2023
VSNL11Jun 12, 2023
VWF1May 2, 2023
WAC2Mar 1, 2023
WAS4Mar 1, 2023
WASHC42May 25, 2022
WASHC52Mar 1, 2023
WBP111Mar 1, 2023
WDFY33May 25, 2022
WDR261Mar 1, 2023
WDR372May 19, 2022
WDR453May 2, 2023
WDR731Mar 1, 2023
WFS18Feb 22, 2024
WLS1May 2, 2023
WNK11May 19, 2022
WNT11May 11, 2022
WT15Dec 12, 2023
WWOX5May 25, 2022
XIAP3Mar 1, 2023
XPA1May 2, 2023
XPC4May 2, 2023
XPR11May 25, 2022
XRCC22Mar 1, 2023
XRCC31May 2, 2023
YARS21May 25, 2022
YWHAG1May 25, 2022
ZBTB161May 25, 2022
ZBTB182Mar 1, 2023
ZBTB202May 25, 2022
ZC4H22Mar 1, 2023
ZDHHC242Mar 1, 2023
ZDHHC91Mar 1, 2023
ZEB22Mar 1, 2023
ZFHX41Mar 1, 2023
ZFYVE262May 25, 2022
ZIC11May 25, 2022
ZIC21May 25, 2022
ZMIZ11Mar 1, 2023
ZMYM23May 2, 2023
ZMYND102Mar 1, 2023
ZMYND81May 19, 2022
ZNF2761Mar 1, 2023
ZNF2925May 2, 2023
ZNF4623May 2, 2023
ZNF4692May 11, 2022
ZNF6271Mar 1, 2023
ZNF7112May 19, 2022
ZNFX12Mar 1, 2023
ZSWIM64May 2, 2023
ZSWIM71Mar 1, 2023

Condition

NameSubmissionsLast Updated
3-methylcrotonyl-CoA carboxylase 1 deficiency1May 2, 2023
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Mar 1, 2023
3M syndrome 21May 11, 2022
46,XY sex reversal 11Mar 1, 2023
8q24.3 microdeletion syndrome3Mar 1, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2May 2, 2023
ADULT syndrome1Mar 1, 2023
Abetalipoproteinaemia1Mar 1, 2023
Abnormal cardiovascular system morphology1May 11, 2022
Abnormal form of the vertebral bodies1May 11, 2022
Abortive cerebellar ataxia2Apr 5, 2023
Acrocephalosyndactyly type I1Mar 1, 2023
Acrodysostosis 2 with or without hormone resistance1Jun 6, 2023
Acrofacial dysostosis Cincinnati type1May 2, 2023
Acromelic frontonasal dysostosis1May 2, 2023
Acromesomelic dysplasia 1, Maroteaux type1May 2, 2023
Acromicric dysplasia2May 2, 2023
Action myoclonus-renal failure syndrome1Mar 1, 2023
Acyl-CoA dehydrogenase 9 deficiency1Mar 1, 2023
Adams-Oliver syndrome 11May 11, 2022
Adrenoleukodystrophy3Mar 1, 2023
Adult hypophosphatasia1May 2, 2023
Agammaglobulinemia 7, autosomal recessive1May 11, 2022
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome1May 11, 2022
Aicardi-Goutieres syndrome 12Mar 1, 2023
Aicardi-Goutieres syndrome 21May 11, 2022
Aicardi-Goutieres syndrome 42Mar 1, 2023
Aicardi-Goutieres syndrome 61May 2, 2023
Aicardi-Goutieres syndrome 71May 11, 2022
Alagille syndrome due to a JAG1 point mutation3Mar 1, 2023
Aldosterone-producing adenoma with seizures and neurological abnormalities2Mar 1, 2023
Alexander disease1May 2, 2023
Alpha thalassemia-X-linked intellectual disability syndrome2May 2, 2023
Alpha-1-antitrypsin deficiency1Mar 1, 2023
Alstrom syndrome2Mar 1, 2023
Alternating hemiplegia of childhood 11May 2, 2023
Alternating hemiplegia of childhood 22May 11, 2022
Alzheimer disease 41May 2, 2023
Alzheimer disease 91May 11, 2022
Ambiguous genitalia1May 11, 2022
Amyotrophic lateral sclerosis type 193May 2, 2023
Amyotrophic lateral sclerosis-parkinsonism-dementia complex1May 11, 2022
Androgen resistance syndrome2Mar 1, 2023
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Mar 1, 2023
Aneurysm-osteoarthritis syndrome1Mar 1, 2023
Angelman syndrome1May 2, 2023
Angioedema, hereditary, 61Mar 1, 2023
Anophthalmia/microphthalmia-esophageal atresia syndrome2Mar 1, 2023
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2Mar 1, 2023
Aortic valve disease 11Mar 1, 2023
Arginase deficiency1Mar 1, 2023
Argininosuccinate lyase deficiency1Mar 1, 2023
Aromatase deficiency2Mar 1, 2023
Arrhinia with choanal atresia and microphthalmia syndrome1May 2, 2023
Arrhythmogenic right ventricular dysplasia 103Dec 12, 2023
Arthrogryposis multiplex congenita 52Jun 6, 2023
Arthrogryposis, distal, IIa 111May 2, 2023
Arthrogryposis, distal, with impaired proprioception and touch3Mar 1, 2023
Arthrogryposis, renal dysfunction, and cholestasis 12Mar 1, 2023
Asthma1May 11, 2022
Astrocytoma1May 11, 2022
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1Mar 1, 2023
Ataxia-pancytopenia syndrome2Mar 1, 2023
Ataxia-telangiectasia syndrome3Mar 1, 2023
Ateleiotic dwarfism1Mar 1, 2023
Atrial conduction disease1May 11, 2022
Atrial fibrillation, familial, 101May 2, 2023
Atrial septal defect 91Mar 1, 2023
Atrophia bulborum hereditaria1May 11, 2022
Auditory hallucination1May 11, 2022
Autism spectrum disorder1May 2, 2023
Autism spectrum disorder due to AUTS2 deficiency4May 2, 2023
Autism, susceptibility to, 161Mar 1, 2023
Autism, susceptibility to, 54May 2, 2023
Autism, susceptibility to, X-linked 31May 11, 2022
Autistic behavior1May 11, 2022
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome3Mar 1, 2023
Autoimmune interstitial lung disease-arthritis syndrome1Mar 1, 2023
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency2Mar 1, 2023
Autoimmune thyroid disease, susceptibility to, 31Mar 1, 2023
Autoinflammation with arthritis and dyskeratosis1May 11, 2022
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2Mar 1, 2023
Autoinflammatory disease, X-linked1Mar 1, 2023
Autoinflammatory syndrome with immunodeficiency1Mar 1, 2023
Autoinflammatory syndrome, familial, Behcet-like2May 11, 2022
Autoinflammatory syndrome, familial, Behcet-like 12Mar 1, 2023
Autosomal dominant Charcot-Marie-Tooth disease type 2W1May 11, 2022
Autosomal dominant Robinow syndrome 31Mar 1, 2023
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Mar 1, 2023
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Mar 1, 2023
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1May 11, 2022
Autosomal dominant nonsyndromic hearing loss 171Mar 1, 2023
Autosomal dominant nonsyndromic hearing loss 201Mar 1, 2023
Autosomal dominant nonsyndromic hearing loss 221Mar 1, 2023
Autosomal dominant nonsyndromic hearing loss 231Mar 1, 2023
Autosomal dominant nonsyndromic hearing loss 361May 2, 2023
Autosomal dominant nonsyndromic hearing loss 401May 2, 2023
Autosomal dominant nonsyndromic hearing loss 51May 2, 2023
Autosomal dominant nonsyndromic hearing loss 671Mar 1, 2023
Autosomal dominant optic atrophy classic form3Mar 1, 2023
Autosomal dominant osteopetrosis 11May 11, 2022
Autosomal dominant osteopetrosis 21Mar 1, 2023
Autosomal dominant thrombocytopenia1May 11, 2022
Autosomal recessive Alport syndrome1May 2, 2023
Autosomal recessive Robinow syndrome1May 11, 2022
Autosomal recessive congenital ichthyosis 21Mar 1, 2023
Autosomal recessive congenital ichthyosis 61May 11, 2022
Autosomal recessive inherited pseudoxanthoma elasticum1Mar 1, 2023
Autosomal recessive juvenile Parkinson disease 21Mar 1, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2B1May 11, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2J5Mar 1, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2L1Mar 15, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2U2Mar 1, 2023
Autosomal recessive multiple pterygium syndrome1Mar 1, 2023
Autosomal recessive nonsyndromic hearing loss 122Mar 1, 2023
Autosomal recessive nonsyndromic hearing loss 1A2Mar 1, 2023
Autosomal recessive nonsyndromic hearing loss 91May 2, 2023
Autosomal recessive osteopetrosis 41Mar 1, 2023
Autosomal recessive spastic paraplegia type 762May 11, 2022
Autosomal recessive spinocerebellar ataxia 131May 11, 2022
Autosomal recessive spinocerebellar ataxia 142May 11, 2022
Autosomal recessive spinocerebellar ataxia 161Mar 1, 2023
B4GALT1-congenital disorder of glycosylation1May 2, 2023
BAP1-related tumor predisposition syndrome2Mar 1, 2023
BENTA disease1May 2, 2023
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 193Mar 1, 2023
Baller-Gerold syndrome1May 2, 2023
Baraitser-Winter syndrome 12Mar 1, 2023
Bardet-Biedl syndrome 12Mar 1, 2023
Bardet-Biedl syndrome 102Mar 1, 2023
Bardet-Biedl syndrome 111Mar 1, 2023
Bardet-Biedl syndrome 21May 11, 2022
Bardet-Biedl syndrome 61May 11, 2022
Barrett esophagus2May 2, 2023
Basal laminar drusen1May 2, 2023
Beck-Fahrner syndrome2May 2, 2023
Beta-thalassemia HBB/LCRB2Mar 1, 2023
Bethlem myopathy 1A3Mar 1, 2023
Bifunctional peroxisomal enzyme deficiency1May 11, 2022
Bilateral parasagittal parieto-occipital polymicrogyria1May 2, 2023
Biotin-responsive basal ganglia disease1Mar 1, 2023
Biotinidase deficiency3Dec 12, 2023
Birt-Hogg-Dube syndrome1Mar 1, 2023
Blau syndrome1May 2, 2023
Blepharophimosis - intellectual disability syndrome, MKB type3Mar 1, 2023
Blepharophimosis - intellectual disability syndrome, SBBYS type2Mar 1, 2023
Blepharophimosis, ptosis, and epicanthus inversus syndrome1May 2, 2023
Bloom syndrome1May 2, 2023
Bohring-Opitz syndrome1Mar 1, 2023
Bone marrow failure syndrome 31Mar 1, 2023
Borjeson-Forssman-Lehmann syndrome1May 11, 2022
Brachycephaly1May 11, 2022
Brachydactyly type A1C1Mar 1, 2023
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome1May 2, 2023
Branchiootic syndrome 31Mar 1, 2023
Breast cancer, susceptibility to1May 11, 2022
Breast carcinoma5Jun 12, 2023
Breast-ovarian cancer, familial, susceptibility to, 116Mar 1, 2023
Breast-ovarian cancer, familial, susceptibility to, 224Jan 24, 2024
Breast-ovarian cancer, familial, susceptibility to, 31Mar 1, 2023
Breast-ovarian cancer, familial, susceptibility to, 44Mar 1, 2023
Brittle cornea syndrome 12May 11, 2022
Bronchiectasis with or without elevated sweat chloride 11Mar 1, 2023
Bruck syndrome 11May 11, 2022
Brugada syndrome 41May 11, 2022
Brugada syndrome 81May 2, 2023
Buratti-Harel syndrome1May 2, 2023
C1Q deficiency 21May 2, 2023
CHARGE association3Mar 1, 2023
CNS demyelination1May 11, 2022
COG7 congenital disorder of glycosylation1May 11, 2022
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1Mar 1, 2023
Candidiasis, familial, 61Mar 1, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Mar 1, 2023
Cardiac arrhythmia, ankyrin-B-related1May 11, 2022
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2May 11, 2022
Cardiac, facial, and digital anomalies with developmental delay2Mar 1, 2023
Cardiofaciocutaneous syndrome 21Mar 1, 2023
Cardiofaciocutaneous syndrome 41May 11, 2022
Cardiofacioneurodevelopmental syndrome1Mar 1, 2023
Cardiomyopathy1May 11, 2022
Carnitine palmitoyl transferase II deficiency, severe infantile form1May 2, 2023
Cataract1May 11, 2022
Cataract 13 with adult I phenotype1May 11, 2022
Cataract 3 multiple types1Mar 1, 2023
Cataract 411Mar 1, 2023
Cataract 5 multiple types1Mar 1, 2023
Catecholaminergic polymorphic ventricular tachycardia 51May 2, 2023
Central core myopathy1Mar 1, 2023
Cerebellar ataxia1May 11, 2022
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2Mar 1, 2023
Cerebellar dysfunction with variable cognitive and behavioral abnormalities2May 2, 2023
Cerebral cavernous malformation 31Mar 1, 2023
Cerebrooculofacioskeletal syndrome 41May 11, 2022
Charcot-Marie-Tooth disease axonal type 2O2May 2, 2023
Charcot-Marie-Tooth disease axonal type 2X1May 11, 2022
Charcot-Marie-Tooth disease recessive intermediate A1Mar 1, 2023
Charcot-Marie-Tooth disease type 1B1Mar 1, 2023
Charcot-Marie-Tooth disease type 4B31May 11, 2022
Charcot-Marie-Tooth disease type 4K1May 11, 2022
Childhood hypophosphatasia2Mar 1, 2023
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder2Mar 1, 2023
Childhood-onset short-trunk short stature1May 11, 2022
Cholestanol storage disease1Mar 1, 2023
Cholestasis1May 11, 2022
Cholestasis, progressive familial intrahepatic, 41Mar 1, 2023
Cholestasis, progressive familial intrahepatic, 51May 11, 2022
Cholestasis-pigmentary retinopathy-cleft palate syndrome2May 2, 2023
Chondrosarcoma1May 2, 2023
Chorea-acanthocytosis3May 11, 2022
Chromosome 16p12.1 deletion syndrome, 520kb1Jun 12, 2023
Chromosome 1p36 deletion syndrome1May 11, 2022
Chromosome 1q21.1 duplication syndrome1May 25, 2022
Chromosome 22q11.2 microduplication syndrome1Jun 12, 2023
Chromosome 2q37 deletion syndrome2May 25, 2022
Chromosome 9p deletion syndrome1May 11, 2022
Chronic diarrhea1May 11, 2022
Chronic obstructive pulmonary disease1May 11, 2022
Chuvash polycythemia2May 2, 2023
Chédiak-Higashi syndrome2May 11, 2022
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Mar 1, 2023
Classic homocystinuria1May 11, 2022
Cleft lip1May 11, 2022
Cleft palate1May 11, 2022
Cleidocranial dysostosis1Mar 1, 2023
Cobalamin C disease3Mar 1, 2023
Cobblestone lissencephaly without muscular or ocular involvement1May 11, 2022
Coenzyme Q10 deficiency, primary, 31May 2, 2023
Coffin-Siris syndrome 12Mar 1, 2023
Coffin-Siris syndrome 121May 2, 2023
Coffin-Siris syndrome 62Mar 1, 2023
Coffin-Siris syndrome 82May 2, 2023
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Mar 1, 2023
Cognitive impairment with or without cerebellar ataxia3Mar 1, 2023
Colon cancer1May 11, 2022
Colorectal cancer1May 2, 2023
Colorectal cancer, hereditary nonpolyposis, type 26Mar 1, 2023
Colorectal cancer, hereditary nonpolyposis, type 71May 2, 2023
Colorectal cancer, susceptibility to, 103Mar 1, 2023
Colorectal cancer, susceptibility to, 125Mar 1, 2023
Colorectal cancer, susceptibility to, 31May 2, 2023
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1Mar 1, 2023
Combined immunodeficiency due to CD3gamma deficiency1Mar 1, 2023
Combined immunodeficiency due to DOCK8 deficiency2Mar 1, 2023
Combined immunodeficiency due to LRBA deficiency4Mar 1, 2023
Combined immunodeficiency due to STIM1 deficiency1Jun 6, 2023
Combined immunodeficiency with skin granulomas1Mar 1, 2023
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21May 11, 2022
Combined oxidative phosphorylation defect type 151May 2, 2023
Combined oxidative phosphorylation defect type 202Mar 1, 2023
Combined oxidative phosphorylation defect type 242Mar 1, 2023
Combined oxidative phosphorylation deficiency 281May 2, 2023
Combined oxidative phosphorylation deficiency 442May 11, 2022
Complement component 3 deficiency2Mar 1, 2023
Complement component 6 deficiency1May 2, 2023
Complex cortical dysplasia with other brain malformations 51May 11, 2022
Cone-rod dystrophy 131Mar 1, 2023
Cone-rod dystrophy 152Mar 1, 2023
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome2Mar 1, 2023
Congenital contractural arachnodactyly2Mar 1, 2023
Congenital contracture1May 11, 2022
Congenital defect of folate absorption1Mar 1, 2023
Congenital diarrhea 62May 2, 2023
Congenital diarrhea 7 with exudative enteropathy1May 2, 2023
Congenital disorder of glycosylation, type Iw, autosomal dominant1May 2, 2023
Congenital elevation of scapula1May 11, 2022
Congenital glucose-galactose malabsorption2Mar 1, 2023
Congenital heart defects and skeletal malformations syndrome1May 2, 2023
Congenital heart defects, multiple types, 22Mar 1, 2023
Congenital hypotrichosis with juvenile macular dystrophy1May 11, 2022
Congenital ichthyosiform erythroderma1May 11, 2022
Congenital microvillous atrophy1Mar 1, 2023
Congenital multicore myopathy with external ophthalmoplegia2Mar 1, 2023
Congenital myasthenic syndrome 162May 11, 2022
Congenital myopathy with fiber type disproportion1Mar 1, 2023
Congenital omphalocele2May 11, 2022
Congenital reticular ichthyosiform erythroderma1Mar 1, 2023
Congenital secretory diarrhea, chloride type1Mar 1, 2023
Congenital short bowel syndrome, autosomal recessive1Mar 1, 2023
Corneal dystrophy, Fuchs endothelial, 31May 2, 2023
Corneal dystrophy, posterior polymorphous, 41May 2, 2023
Cornelia de Lange syndrome 14May 2, 2023
Cornelia de Lange syndrome 51Jul 28, 2023
Cornelia de Lange-like syndrome1May 2, 2023
Cortical dysplasia, complex, with other brain malformations 101May 11, 2022
Cowden syndrome 12Mar 1, 2023
Cowden syndrome 42May 11, 2022
Cowden syndrome 72Mar 1, 2023
Craniosynostosis 71May 11, 2022
Craniosynostosis syndrome2May 11, 2022
Crouzon syndrome1May 11, 2022
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1May 11, 2022
Currarino triad1May 11, 2022
Cutaneous mastocytosis1May 11, 2022
Cutaneous porphyria1May 11, 2022
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1May 2, 2023
Cutis laxa, autosomal dominant 31Mar 1, 2023
Cyclical neutropenia2Mar 1, 2023
Cystic fibrosis7Mar 1, 2023
Cystinuria2Mar 1, 2023
Cytochrome-c oxidase deficiency disease1Mar 1, 2023
DE SANCTIS-CACCHIONE SYNDROME1May 2, 2023
DNA ligase IV deficiency2May 2, 2023
DeSanto-Shinawi syndrome due to WAC point mutation1Mar 1, 2023
Decreased body weight1May 11, 2022
Decreased circulating antibody level2May 11, 2022
Deeah syndrome2May 11, 2022
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2Jan 6, 2023
Deficiency of butyryl-CoA dehydrogenase1May 2, 2023
Deficiency of cytochrome-b5 reductase1Mar 1, 2023
Deficiency of ferroxidase1May 2, 2023
Deficiency of galactokinase1May 11, 2022
Deficiency of guanidinoacetate methyltransferase1Mar 1, 2023
Deficiency of hydroxymethylglutaryl-CoA lyase1Mar 1, 2023
Deficiency of isobutyryl-CoA dehydrogenase1Mar 1, 2023
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1May 11, 2022
Delayed ability to stand1May 11, 2022
Delayed ability to walk1May 11, 2022
Delayed fine motor development1May 11, 2022
Delayed gross motor development1May 11, 2022
Dementia1May 11, 2022
Dent disease type 11Mar 1, 2023
Dermatitis, atopic, 25Mar 1, 2023
Dermatopathia pigmentosa reticularis1Mar 1, 2023
Desmoid disease, hereditary2Mar 1, 2023
Developmental and epileptic encephalopathy 1011May 2, 2023
Developmental and epileptic encephalopathy 1031Mar 1, 2023
Developmental and epileptic encephalopathy 6B2May 2, 2023
Developmental and epileptic encephalopathy, 11Mar 1, 2023
Developmental and epileptic encephalopathy, 113Mar 1, 2023
Developmental and epileptic encephalopathy, 131Mar 1, 2023
Developmental and epileptic encephalopathy, 143May 2, 2023
Developmental and epileptic encephalopathy, 161May 11, 2022
Developmental and epileptic encephalopathy, 24Mar 1, 2023
Developmental and epileptic encephalopathy, 211Mar 1, 2023
Developmental and epileptic encephalopathy, 263Mar 1, 2023
Developmental and epileptic encephalopathy, 281May 11, 2022
Developmental and epileptic encephalopathy, 312Mar 1, 2023
Developmental and epileptic encephalopathy, 361Mar 1, 2023
Developmental and epileptic encephalopathy, 371Mar 1, 2023
Developmental and epileptic encephalopathy, 43Mar 1, 2023
Developmental and epileptic encephalopathy, 411Mar 1, 2023
Developmental and epileptic encephalopathy, 426Mar 1, 2023
Developmental and epileptic encephalopathy, 431Mar 1, 2023
Developmental and epileptic encephalopathy, 461Mar 1, 2023
Developmental and epileptic encephalopathy, 481Mar 1, 2023
Developmental and epileptic encephalopathy, 51Mar 1, 2023
Developmental and epileptic encephalopathy, 543May 2, 2023
Developmental and epileptic encephalopathy, 551May 11, 2022
Developmental and epileptic encephalopathy, 572May 11, 2022
Developmental and epileptic encephalopathy, 591May 2, 2023
Developmental and epileptic encephalopathy, 611May 2, 2023
Developmental and epileptic encephalopathy, 621Mar 1, 2023
Developmental and epileptic encephalopathy, 672May 2, 2023
Developmental and epileptic encephalopathy, 691May 2, 2023
Developmental and epileptic encephalopathy, 73Mar 1, 2023
Developmental and epileptic encephalopathy, 741Mar 1, 2023
Developmental and epileptic encephalopathy, 762May 2, 2023
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1Mar 1, 2023
Developmental delay with autism spectrum disorder and gait instability2Mar 1, 2023
Developmental delay with dysmorphic facies and dental anomalies1Mar 1, 2023
Developmental delay with or without dysmorphic facies and autism2Mar 1, 2023
Developmental delay with variable intellectual impairment and behavioral abnormalities3Mar 1, 2023
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Mar 1, 2023
Developmental delay, impaired speech, and behavioral abnormalities2May 2, 2023
Diamond-Blackfan anemia 161May 11, 2022
Diamond-Blackfan anemia 71Mar 1, 2023
Dias-Logan syndrome1May 11, 2022
Diastrophic dysplasia1Mar 1, 2023
Diencephalic-mesencephalic junction dysplasia syndrome 12Mar 1, 2023
Diets-Jongmans syndrome2May 2, 2023
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1Mar 1, 2023
Dihydropyrimidinase deficiency2Mar 1, 2023
Dilated cardiomyopathy 1D1May 2, 2023
Dilated cardiomyopathy 1G5May 2, 2023
Dilated cardiomyopathy 1GG1May 2, 2023
Disproportionate short stature1May 11, 2022
Disproportionate tall stature1May 11, 2022
Distal arthrogryposis1May 11, 2022
Distal arthrogryposis type 2B11May 11, 2022
Distal myopathy with anterior tibial onset1May 11, 2022
Dowling-Degos disease 11May 2, 2023
Duane-radial ray syndrome1May 11, 2022
Duchenne muscular dystrophy1Mar 1, 2023
Dyskeratosis congenita, autosomal dominant 21May 11, 2022
Dyskinesia1May 11, 2022
Dyskinesia with orofacial involvement, autosomal dominant1Mar 1, 2023
Dystonia 121Mar 1, 2023
Dystonia 28, childhood-onset1Mar 1, 2023
Dystonia 52Mar 1, 2023
Dystonia 91Mar 1, 2023
Dystonic disorder1May 11, 2022
EAST syndrome1May 11, 2022
Early-onset chronic pancreatitis1May 2, 2023
Early-onset myopathy with fatal cardiomyopathy1Mar 1, 2023
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2Mar 1, 2023
Ectodermal dysplasia and immunodeficiency 11May 11, 2022
Ectodermal dysplasia and immunodeficiency 21May 11, 2022
Ehlers-Danlos syndrome, arthrochalasia type1Mar 1, 2023
Ehlers-Danlos syndrome, classic type, 12Mar 1, 2023
Ehlers-Danlos syndrome, classic type, 21Mar 1, 2023
Ehlers-Danlos syndrome, kyphoscoliotic type 13Mar 1, 2023
Ehlers-Danlos syndrome, musculocontractural type 11Mar 1, 2023
Ehlers-Danlos syndrome, type 41Mar 1, 2023
Ehlers-danlos syndrome, arthrochalasia type, 21May 11, 2022
Elliptocytosis 21Mar 1, 2023
Elliptocytosis 31May 11, 2022
Ellis-van Creveld syndrome3Mar 1, 2023
Elsahy-Waters syndrome1May 2, 2023
Encephalopathy, acute, infection-induced, susceptibility to, 41Mar 1, 2023
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12May 2, 2023
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis1May 2, 2023
Endometrial carcinoma6Mar 1, 2023
Epidermolysis bullosa simplex 1A, generalized severe1May 11, 2022
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1May 11, 2022
Epidermolysis bullosa simplex with nail dystrophy1May 2, 2023
Epidermolysis bullosa simplex, Koebner type1May 11, 2022
Epidermolysis bullosa, junctional 4, intermediate1Mar 1, 2023
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1May 2, 2023
Epilepsy, familial temporal lobe, 11May 11, 2022
Epilepsy, idiopathic generalized, susceptibility to, 101May 2, 2023
Epilepsy, idiopathic generalized, susceptibility to, 151May 11, 2022
Epileptic encephalopathy1May 11, 2022
Epileptic encephalopathy with cognitive deficit1May 2, 2023
Epiphyseal dysplasia, multiple, 21May 11, 2022
Episodic ataxia type 21May 11, 2022
Ethylmalonic encephalopathy1May 11, 2022
Exocrine pancreatic insufficiency1May 11, 2022
Exostoses, multiple, type 11May 11, 2022
Exostoses, multiple, type 21May 2, 2023
Exudative vitreoretinopathy 71May 2, 2023
FBN1-related disease1Dec 12, 2023
FG syndrome 42May 2, 2023
FRAXE1May 2, 2023
Fabry disease1Mar 1, 2023
Failure to thrive2May 11, 2022
Failure to thrive in infancy1May 11, 2022
Familial Mediterranean fever, autosomal dominant1Mar 1, 2023
Familial acute necrotizing encephalopathy2Mar 1, 2023
Familial adenomatous polyposis 111May 2, 2023
Familial adenomatous polyposis 28Dec 12, 2023
Familial adenomatous polyposis 32May 2, 2023
Familial adenomatous polyposis 43Mar 1, 2023
Familial amyloid neuropathy1May 2, 2023
Familial cancer of breast43May 2, 2023
Familial cold autoinflammatory syndrome 11Mar 1, 2023
Familial cold autoinflammatory syndrome 23May 2, 2023
Familial cold autoinflammatory syndrome 31May 11, 2022
Familial cold autoinflammatory syndrome 42May 2, 2023
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1Mar 1, 2023
Familial gestational hyperthyroidism1May 2, 2023
Familial hemophagocytic lymphohistiocytosis 41May 2, 2023
Familial porphyria cutanea tarda1May 11, 2022
Familial temporal lobe epilepsy 71Mar 1, 2023
Familial type 3 hyperlipoproteinemia1Mar 1, 2023
Family history of cancer2May 11, 2022
Fanconi anemia complementation group A3Mar 1, 2023
Fanconi anemia complementation group D11May 2, 2023
Fanconi anemia complementation group G1May 11, 2022
Fanconi anemia complementation group J2Mar 1, 2023
Fanconi anemia complementation group N1May 11, 2022
Fanconi anemia complementation group P1May 2, 2023
Fanconi anemia complementation group Q2May 11, 2022
Fanconi anemia complementation group U2Mar 1, 2023
Fanconi anemia, complementation group S1May 2, 2023
Fanconi renotubular syndrome 31Mar 1, 2023
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1May 11, 2022
Febrile seizures, familial, 21May 2, 2023
Flexion contracture1May 11, 2022
Floating-Harbor syndrome2May 11, 2022
Focal segmental glomerulosclerosis 63Mar 1, 2023
Focal segmental glomerulosclerosis 71Mar 1, 2023
Fontaine progeroid syndrome1May 11, 2022
Frank-Ter Haar syndrome1Mar 1, 2023
Fraser syndrome 31May 11, 2022
Freeman-Sheldon syndrome1Mar 1, 2023
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31May 2, 2023
GM1 gangliosidosis type 32Mar 1, 2023
GNE myopathy1May 2, 2023
GRACILE syndrome1May 11, 2022
Galactosylceramide beta-galactosidase deficiency5Mar 1, 2023
Galloway-Mowat syndrome 11Mar 1, 2023
Gastric adenocarcinoma and proximal polyposis of the stomach1Mar 1, 2023
Gastrointestinal stromal tumor2Mar 1, 2023
Geleophysic dysplasia 21May 11, 2022
Geleophysic dysplasia 31May 11, 2022
Generalized dominant dystrophic epidermolysis bullosa11May 11, 2022
Generalized epilepsy with febrile seizures plus, type 22Mar 1, 2023
Generalized epilepsy with febrile seizures plus, type 91Mar 1, 2023
Genitopatellar syndrome3May 2, 2023
Giant axonal neuropathy 12May 11, 2022
Glaucoma1May 2, 2023
Glaucoma 3A2Mar 1, 2023
Glioma susceptibility 21Mar 1, 2023
Glioma susceptibility 91May 2, 2023
Global developmental delay3May 11, 2022
Global developmental delay with or without impaired intellectual development1Mar 1, 2023
Global developmental delay with speech and behavioral abnormalities1May 2, 2023
Glomerulopathy with fibronectin deposits 21Mar 1, 2023
Glucose-6-phosphate transport defect1May 11, 2022
Glutaric aciduria, type 13Mar 1, 2023
Glycogen storage disease IXa14Mar 1, 2023
Glycogen storage disease IXb3Mar 1, 2023
Glycogen storage disease IXc1Mar 1, 2023
Glycogen storage disease IXd1Mar 1, 2023
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1May 11, 2022
Glycogen storage disease, type II3Jan 30, 2024
Glycosylphosphatidylinositol biosynthesis defect 152Mar 1, 2023
Gonadal dysgenesis1May 11, 2022
Gonadal tissue inappropriate for external genitalia or chromosomal sex1May 11, 2022
Granulocytopenia with immunoglobulin abnormality2Mar 1, 2023
Granulomatous disease, chronic, X-linked2May 2, 2023
Gray matter heterotopia1May 11, 2022
Greig cephalopolysyndactyly syndrome1May 11, 2022
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive2Mar 1, 2023
Hao-Fountain syndrome2May 2, 2023
Hearing impairment3May 11, 2022
Hearing loss, autosomal dominant 372May 2, 2023
Hearing loss, autosomal dominant 811May 2, 2023
Hearing loss, autosomal dominant 821May 2, 2023
Heart, malformation of1May 11, 2022
Hemivertebrae1May 11, 2022
Hemochromatosis type 12Dec 12, 2023
Hemochromatosis type 41May 11, 2022
Hepatic veno-occlusive disease-immunodeficiency syndrome1Mar 1, 2023
Hepatomegaly1May 11, 2022
Hereditary amyloidosis1Dec 12, 2023
Hereditary angioedema type 11May 11, 2022
Hereditary antithrombin deficiency1May 11, 2022
Hereditary breast ovarian cancer syndrome3Dec 12, 2023
Hereditary diffuse gastric adenocarcinoma3Mar 1, 2023
Hereditary factor VIII deficiency disease1May 11, 2022
Hereditary fructosuria2May 2, 2023
Hereditary intrinsic factor deficiency2Apr 5, 2023
Hereditary lymphedema type I1May 11, 2022
Hereditary nonpolyposis colorectal carcinoma1May 11, 2022
Hereditary pancreatitis3Mar 1, 2023
Hereditary persistence of fetal hemoglobin1Mar 1, 2023
Hereditary spastic paraplegia 112May 11, 2022
Hereditary spastic paraplegia 121May 2, 2023
Hereditary spastic paraplegia 151May 11, 2022
Hereditary spastic paraplegia 261May 11, 2022
Hereditary spastic paraplegia 43Mar 1, 2023
Hereditary spastic paraplegia 491May 11, 2022
Hereditary spastic paraplegia 501Mar 1, 2023
Hereditary spastic paraplegia 71May 2, 2023
Hereditary spherocytosis type 21May 11, 2022
Hermansky-Pudlak syndrome 111May 2, 2023
Hermansky-Pudlak syndrome 61May 2, 2023
Hidrotic ectodermal dysplasia syndrome1Mar 1, 2023
Holocarboxylase synthetase deficiency1May 2, 2023
Holoprosencephaly 12 with or without pancreatic agenesis3May 2, 2023
Holoprosencephaly 13, X-linked1May 2, 2023
Holoprosencephaly 71Mar 1, 2023
Holoprosencephaly 92Mar 1, 2023
Hyaline fibromatosis syndrome3Dec 7, 2023
Hydrocephalus, congenital communicating, 11May 11, 2022
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2Mar 1, 2023
Hyper-IgE recurrent infection syndrome 5, autosomal recessive1May 11, 2022
Hyper-IgM syndrome type 13Mar 1, 2023
Hyper-IgM syndrome type 23Jun 6, 2023
Hypercholesterolemia, familial, 16Jan 30, 2024
Hyperekplexia 31Mar 1, 2023
Hyperimmunoglobulin D with periodic fever5May 2, 2023
Hyperinsulinism-hyperammonemia syndrome1May 2, 2023
Hyperkalemic periodic paralysis4May 2, 2023
Hyperlipoproteinemia, type I1Mar 1, 2023
Hyperphosphatasia with intellectual disability syndrome 21Mar 1, 2023
Hyperphosphatasia with intellectual disability syndrome 41May 11, 2022
Hyperpigmentation of the skin1May 11, 2022
Hypertrophic cardiomyopathy 11May 2, 2023
Hypertrophic cardiomyopathy 41Mar 1, 2023
Hypertrophic cardiomyopathy 92May 11, 2022
Hypochondroplasia2May 11, 2022
Hypoglycemia1May 11, 2022
Hypogonadotropic hypogonadism 15 with or without anosmia1Jun 12, 2023
Hypogonadotropic hypogonadism 2 with or without anosmia2Mar 1, 2023
Hypogonadotropic hypogonadism 26 with or without anosmia1Mar 1, 2023
Hypogonadotropic hypogonadism 5 with or without anosmia1Mar 26, 2022
Hypogonadotropic hypogonadism 7 with or without anosmia1May 2, 2023
Hypohidrotic X-linked ectodermal dysplasia2Mar 1, 2023
Hypokalemic periodic paralysis, type 11Mar 1, 2023
Hypokalemic periodic paralysis, type 22May 11, 2022
Hypomyelinating leukodystrophy 101Mar 1, 2023
Hypomyelinating leukodystrophy 21May 11, 2022
Hypomyelinating leukodystrophy 61Mar 1, 2023
Hypophosphatemia1May 11, 2022
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1May 11, 2022
Hypotonia2May 11, 2022
Hypotonia, ataxia, and delayed development syndrome1May 11, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Mar 1, 2023
Ichthyosis vulgaris5Mar 1, 2023
Ichthyosis, hystrix-like, with hearing loss1May 11, 2022
Immunodeficiency1May 11, 2022
Immunodeficiency 1042May 11, 2022
Immunodeficiency 106, susceptibility to viral infections1Mar 1, 2023
Immunodeficiency 141Mar 1, 2023
Immunodeficiency 27A1Mar 1, 2023
Immunodeficiency 331May 11, 2022
Immunodeficiency 351May 11, 2022
Immunodeficiency 451May 11, 2022
Immunodeficiency 473May 2, 2023
Immunodeficiency 511May 11, 2022
Immunodeficiency 571Mar 1, 2023
Immunodeficiency 602Mar 1, 2023
Immunodeficiency 622Mar 1, 2023
Immunodeficiency 641Mar 1, 2023
Immunodeficiency 772May 2, 2023
Immunodeficiency 82 with systemic inflammation1May 11, 2022
Immunodeficiency 842Mar 1, 2023
Immunodeficiency 85 and autoimmunity1May 2, 2023
Immunodeficiency 91 and hyperinflammation2Mar 1, 2023
Immunodeficiency 94 with autoinflammation and dysmorphic facies1May 2, 2023
Immunodeficiency 962Mar 1, 2023
Immunodeficiency, common variable, 103Mar 1, 2023
Immunodeficiency, common variable, 123Mar 1, 2023
Immunodeficiency, common variable, 143Jun 6, 2023
Immunodeficiency, common variable, 27Mar 1, 2023
Immunodeficiency, common variable, 51May 2, 2023
Immunodeficiency, common variable, 73Mar 1, 2023
Immunodeficiency, developmental delay, and hypohomocysteinemia1May 11, 2022
Immunodeficiency-centromeric instability-facial anomalies syndrome 12Mar 1, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 31Mar 1, 2023
Immunoglobulin A deficiency 21Mar 1, 2023
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21May 2, 2023
Incontinentia pigmenti syndrome1May 11, 2022
Infantile GM1 gangliosidosis2May 11, 2022
Infantile convulsions and choreoathetosis1May 2, 2023
Infantile hypophosphatasia2May 11, 2022
Infantile liver failure syndrome 22May 11, 2022
Infantile liver failure syndrome 31Mar 1, 2023
Infantile neuroaxonal dystrophy4Mar 1, 2023
Infantile-onset ascending hereditary spastic paralysis1May 11, 2022
Inflammatory bowel disease 11Mar 1, 2023
Inflammatory bowel disease 251Mar 1, 2023
Inflammatory bowel disease 301Mar 1, 2023
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Mar 1, 2023
Intellectual developmental disorder 611May 2, 2023
Intellectual developmental disorder 621May 2, 2023
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature2Mar 1, 2023
Intellectual developmental disorder with autism and macrocephaly4May 2, 2023
Intellectual developmental disorder with autistic features and language delay, with or without seizures1May 2, 2023
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Mar 1, 2023
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities3May 2, 2023
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Mar 1, 2023
Intellectual developmental disorder with paroxysmal dyskinesia or seizures2May 11, 2022
Intellectual developmental disorder with poor growth and with or without seizures or ataxia2May 11, 2022
Intellectual developmental disorder with seizures and language delay2Mar 1, 2023
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1May 11, 2022
Intellectual developmental disorder, X-linked 1082May 11, 2022
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type1Jul 28, 2023
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly2May 11, 2022
Intellectual developmental disorder, autosomal dominant 644May 2, 2023
Intellectual developmental disorder, autosomal dominant 653May 2, 2023
Intellectual developmental disorder, autosomal recessive 741May 11, 2022
Intellectual disability5May 11, 2022
Intellectual disability, X-linked 11May 2, 2023
Intellectual disability, X-linked 1011May 2, 2023
Intellectual disability, X-linked 1022Mar 1, 2023
Intellectual disability, X-linked 1042Mar 1, 2023
Intellectual disability, X-linked 192Mar 1, 2023
Intellectual disability, X-linked 411May 11, 2022
Intellectual disability, X-linked 581May 11, 2022
Intellectual disability, X-linked 931Mar 1, 2023
Intellectual disability, X-linked 971May 11, 2022
Intellectual disability, X-linked 991Mar 1, 2023
Intellectual disability, X-linked syndromic, Turner type2Mar 1, 2023
Intellectual disability, X-linked, syndromic, Houge type1May 11, 2022
Intellectual disability, autosomal dominant 12May 11, 2022
Intellectual disability, autosomal dominant 133Mar 1, 2023
Intellectual disability, autosomal dominant 161May 2, 2023
Intellectual disability, autosomal dominant 222Mar 1, 2023
Intellectual disability, autosomal dominant 242Mar 1, 2023
Intellectual disability, autosomal dominant 271Mar 1, 2023
Intellectual disability, autosomal dominant 291May 2, 2023
Intellectual disability, autosomal dominant 31May 11, 2022
Intellectual disability, autosomal dominant 341May 11, 2022
Intellectual disability, autosomal dominant 381Mar 1, 2023
Intellectual disability, autosomal dominant 421May 11, 2022
Intellectual disability, autosomal dominant 435Mar 1, 2023
Intellectual disability, autosomal dominant 451May 11, 2022
Intellectual disability, autosomal dominant 481Mar 1, 2023
Intellectual disability, autosomal dominant 52Mar 1, 2023
Intellectual disability, autosomal dominant 501May 11, 2022
Intellectual disability, autosomal dominant 524Mar 1, 2023
Intellectual disability, autosomal dominant 561Mar 1, 2023
Intellectual disability, autosomal dominant 571May 2, 2023
Intellectual disability, autosomal dominant 581Mar 1, 2023
Intellectual disability, autosomal recessive 121May 11, 2022
Intellectual disability, autosomal recessive 271Mar 1, 2023
Intellectual disability, autosomal recessive 531May 2, 2023
Intellectual disability, autosomal recessive 631May 2, 2023
Intellectual disability, severe1May 11, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Mar 1, 2023
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1May 2, 2023
Intellectual disability-hypotonic facies syndrome, X-linked, 13Mar 1, 2023
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome5May 2, 2023
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Mar 1, 2023
Intestinal hypomagnesemia 11May 2, 2023
Isolated microphthalmia 31Mar 1, 2023
Isovaleryl-CoA dehydrogenase deficiency1Mar 1, 2023
Jawad syndrome1May 11, 2022
Joubert syndrome 172Mar 1, 2023
Joubert syndrome 332Jul 28, 2023
Joubert syndrome 62May 11, 2022
Junctional epidermolysis bullosa gravis of Herlitz2Mar 1, 2023
Junctional epidermolysis bullosa, non-Herlitz type2May 11, 2022
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1May 11, 2022
KBG syndrome8May 2, 2023
Kabuki syndrome 16Mar 1, 2023
Kabuki syndrome 21May 2, 2023
Kartagener syndrome1Mar 1, 2023
Keppen-Lubinsky syndrome1Mar 1, 2023
Kleefstra syndrome 15May 2, 2023
Kleefstra syndrome 24May 2, 2023
Kniest dysplasia1May 11, 2022
Knobloch syndrome1May 11, 2022
Knobloch syndrome 12Mar 1, 2023
L-2-hydroxyglutaric aciduria1May 2, 2023
LEOPARD syndrome 11Mar 1, 2023
LMNA-related disease1Dec 12, 2023
Lamb-Shaffer syndrome2Mar 1, 2023
Landau-Kleffner syndrome2Mar 1, 2023
Larsen syndrome1Mar 1, 2023
Leber congenital amaurosis 91May 11, 2022
Leigh syndrome1May 11, 2022
Lens luxation1May 11, 2022
Lesch-Nyhan syndrome1Mar 1, 2023
Lethal Kniest-like syndrome2Mar 1, 2023
Lethal arthrogryposis-anterior horn cell disease syndrome1Jun 6, 2023
Lethal osteosclerotic bone dysplasia1May 11, 2022
Leukocyte adhesion deficiency 13Mar 1, 2023
Leukodystrophy2May 11, 2022
Leukodystrophy, hypomyelinating, 241Mar 1, 2023
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Mar 1, 2023
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome2Mar 1, 2023
Leydig cell agenesis3May 2, 2023
Li-Fraumeni syndrome 17Dec 12, 2023
Li-Fraumeni syndrome 22Mar 1, 2023
Liang-Wang syndrome1May 11, 2022
Lichtenstein-Knorr syndrome1May 11, 2022
Lissencephaly 9 with complex brainstem malformation1Mar 1, 2023
Lissencephaly due to TUBA1A mutation1Mar 1, 2023
Loeys-Dietz syndrome 11May 11, 2022
Loeys-Dietz syndrome 21Mar 1, 2023
Long QT syndrome 22May 11, 2022
Long QT syndrome 31Mar 1, 2023
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1May 11, 2022
Loricrin keratoderma1May 2, 2023
Lowe syndrome3Mar 1, 2023
Lumbar kyphoscoliosis1May 11, 2022
Luscan-Lumish syndrome2Mar 1, 2023
Lynch syndrome 19Dec 12, 2023
Lynch syndrome 42Dec 12, 2023
Lynch syndrome 512Dec 12, 2023
Lynch syndrome 81Mar 1, 2023
MHC class II deficiency1May 11, 2022
MPI-congenital disorder of glycosylation3May 2, 2023
MYBPC3-related disease1Dec 12, 2023
MYH7-related disease2Dec 12, 2023
MYL2-related disease1Dec 12, 2023
Macrocephaly1May 11, 2022
Macrocephaly, acquired, with impaired intellectual development1May 2, 2023
Macrocephaly, dysmorphic facies, and psychomotor retardation2Mar 1, 2023
Macrocephaly-autism syndrome3Mar 1, 2023
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1May 11, 2022
Malan overgrowth syndrome1May 2, 2023
Malignant hyperthermia, susceptibility to, 15Dec 12, 2023
Malignant tumor of breast1Jun 12, 2023
Malignant tumor of prostate2Mar 1, 2023
Mandibular hypoplasia-deafness-progeroid syndrome2May 2, 2023
Mandibulofacial dysostosis-microcephaly syndrome1Mar 1, 2023
Maple syrup urine disease2Mar 1, 2023
Marden-Walker syndrome1May 2, 2023
Marfan syndrome6Mar 1, 2023
Marshall-Smith syndrome1Mar 1, 2023
Martsolf syndrome 11May 11, 2022
Maturity-onset diabetes of the young type 21Mar 1, 2023
Meckel syndrome, type 62Mar 1, 2023
Megalencephalic leukoencephalopathy with subcortical cysts 12Mar 1, 2023
Megalencephaly1May 11, 2022
Meier-Gorlin syndrome 41May 2, 2023
Melanoma1May 11, 2022
Melanoma and neural system tumor syndrome1Mar 1, 2023
Melanoma, cutaneous malignant, susceptibility to, 81Mar 1, 2023
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1Mar 1, 2023
Menke-Hennekam syndrome 11May 2, 2023
Menke-Hennekam syndrome 21May 2, 2023
Menstrual cycle-dependent periodic fever1May 2, 2023
Merosin deficient congenital muscular dystrophy2Jun 12, 2023
Metachromatic leukodystrophy2Mar 1, 2023
Methylmalonate semialdehyde dehydrogenase deficiency1May 2, 2023
Methylmalonic acidemia with homocystinuria, type cblX1May 2, 2023
Methylmalonic aciduria and homocystinuria type cblD1Mar 1, 2023
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3Mar 1, 2023
Methylmalonic aciduria, cblA type1May 11, 2022
Microcephaly3May 11, 2022
Microcephaly 1, primary, autosomal recessive1Mar 1, 2023
Microcephaly 21, primary, autosomal recessive1Mar 1, 2023
Microcephaly 3, primary, autosomal recessive1May 11, 2022
Microcephaly 5, primary, autosomal recessive3May 2, 2023
Microcephaly 6, primary, autosomal recessive2Mar 1, 2023
Microcephaly, normal intelligence and immunodeficiency1Mar 1, 2023
Microcornea-myopic chorioretinal atrophy3May 2, 2023
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome4May 2, 2023
Microphthalmia with brain and digit anomalies1May 2, 2023
Mild global developmental delay1May 11, 2022
Mild malformation of cortical development1May 11, 2022
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1May 2, 2023
Mitochondrial DNA depletion syndrome 4b3Apr 26, 2023
Mitochondrial DNA depletion syndrome, myopathic form1Mar 1, 2023
Mitochondrial complex 1 deficiency, nuclear type 162Mar 1, 2023
Mitochondrial complex 1 deficiency, nuclear type 81Mar 1, 2023
Mitochondrial complex III deficiency nuclear type 12May 11, 2022
Mitochondrial complex III deficiency nuclear type 51May 11, 2022
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11Mar 1, 2023
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1May 2, 2023
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1May 11, 2022
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency5Mar 1, 2023
Mitochondrial trifunctional protein deficiency 21Jun 6, 2023
Mitral regurgitation1May 11, 2022
Miyoshi muscular dystrophy 11May 11, 2022
Miyoshi muscular dystrophy 31Mar 15, 2024
Monocytopenia with susceptibility to infections1Mar 1, 2023
Mosaic variegated aneuploidy syndrome 11Mar 1, 2023
Mowat-Wilson syndrome1Mar 1, 2023
Moyamoya disease 21May 11, 2022
Mucolipidosis type II1Mar 1, 2023
Mucopolysaccharidosis, MPS-II4May 2, 2023
Mucopolysaccharidosis, MPS-III-B2Mar 1, 2023
Muenke syndrome1Mar 1, 2023
Muir-Torré syndrome3Mar 1, 2023
Mullegama-Klein-Martinez syndrome1Mar 1, 2023
Multiple acyl-CoA dehydrogenase deficiency2Mar 1, 2023
Multiple congenital anomalies-hypotonia-seizures syndrome 11Mar 1, 2023
Multiple congenital anomalies-hypotonia-seizures syndrome 31Mar 1, 2023
Multiple endocrine neoplasia, type 12Mar 1, 2023
Multiple endocrine neoplasia, type 2a1Mar 1, 2023
Multiple epiphyseal dysplasia type 12Mar 1, 2023
Multiple synostoses syndrome 21Mar 1, 2023
Muscular dystrophy, limb-girdle, autosomal recessive 234Mar 1, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A142Mar 1, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31May 11, 2022
Myasthenic syndrome, congenital, 25, presynaptic1Mar 1, 2023
Myelodysplasia1May 11, 2022
Myhre syndrome2Mar 1, 2023
Myoclonic-astatic epilepsy1Mar 1, 2023
Myopathy, proximal, and ophthalmoplegia2Dec 14, 2023
Myopia1May 11, 2022
Myopia, high, with cataract and vitreoretinal degeneration2Mar 1, 2023
NAD(P)HX dehydratase deficiency1May 11, 2022
NDE1-related microhydranencephaly1Mar 1, 2023
Nemaline myopathy 101Mar 1, 2023
Nemaline myopathy 22Mar 1, 2023
Neonatal respiratory distress1May 11, 2022
Neoplasm of ovary2Jun 12, 2023
Neoplasm of uterus1May 11, 2022
Nephronophthisis 191May 11, 2022
Nephrotic syndrome 151May 11, 2022
Nephrotic syndrome, type 35May 2, 2023
Nephrotic syndrome, type 42May 11, 2022
Netherton syndrome1Mar 1, 2023
Neurodegeneration with brain iron accumulation 41Jun 6, 2023
Neurodegeneration with brain iron accumulation 52May 2, 2023
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures2May 11, 2022
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities1May 2, 2023
Neurodevelopmental delay5May 11, 2022
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter1May 11, 2022
Neurodevelopmental disorder with central hypotonia and dysmorphic facies2May 2, 2023
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1May 2, 2023
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities2May 2, 2023
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Mar 1, 2023
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum1May 2, 2023
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia2May 11, 2022
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities1May 2, 2023
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum1Mar 1, 2023
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1May 11, 2022
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities1Mar 1, 2023
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures2Mar 1, 2023
Neurodevelopmental disorder with hypotonia, seizures, and absent language1May 2, 2023
Neurodevelopmental disorder with language impairment and behavioral abnormalities1May 11, 2022
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities1Mar 1, 2023
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2May 11, 2022
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures2Mar 1, 2023
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1May 11, 2022
Neurodevelopmental disorder with or without early-onset generalized epilepsy5Mar 1, 2023
Neurodevelopmental disorder with or without seizures and gait abnormalities2Mar 1, 2023
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA3May 2, 2023
Neurodevelopmental disorder with poor language and loss of hand skills1Mar 1, 2023
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1May 11, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures2Mar 1, 2023
Neurodevelopmental disorder with seizures and gingival overgrowth1May 11, 2022
Neurodevelopmental disorder with severe motor impairment and absent language2May 2, 2023
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Mar 1, 2023
Neurodevelopmental disorder with speech impairment and with or without seizures1May 2, 2023
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1Mar 1, 2023
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities1May 2, 2023
Neurofibromatosis, type 115May 2, 2023
Neurofibromatosis-Noonan syndrome1Mar 1, 2023
Neuronal ceroid lipofuscinosis 11May 11, 2022
Neuronal ceroid lipofuscinosis 33Mar 1, 2023
Neuronopathy, distal hereditary motor, autosomal dominant 81May 11, 2022
Neuronopathy, distal hereditary motor, autosomal recessive 81Mar 1, 2023
Neurooculocardiogenitourinary syndrome1May 11, 2022
Neuropathic spinal arthropathy1May 11, 2022
Nicolaides-Baraitser syndrome1Mar 1, 2023
Niemann-Pick disease, type A1Mar 1, 2023
Niemann-Pick disease, type C12May 2, 2023
Niemann-Pick disease, type C21May 11, 2022
Nijmegen breakage syndrome-like disorder4Mar 1, 2023
Nizon-Isidor syndrome1Mar 1, 2023
Non-ketotic hyperglycinemia4Mar 1, 2023
Noonan syndrome 15Mar 1, 2023
Noonan syndrome 105May 2, 2023
Noonan syndrome 23May 11, 2022
Noonan syndrome 42Mar 1, 2023
Noonan syndrome 51Mar 1, 2023
Noonan syndrome 61May 11, 2022
Noonan syndrome 71Mar 1, 2023
Noonan syndrome-like disorder with loose anagen hair 12Mar 1, 2023
Nystagmus1May 11, 2022
O'Donnell-Luria-Rodan syndrome1Mar 1, 2023
Obesity, hyperphagia, and developmental delay1Mar 1, 2023
Ocular albinism1May 11, 2022
Ogden syndrome1Mar 1, 2023
Okur-Chung neurodevelopmental syndrome2May 2, 2023
Oligodontia-cancer predisposition syndrome2May 2, 2023
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures3Mar 1, 2023
Optic atrophy 51May 11, 2022
Ornithine carbamoyltransferase deficiency1Dec 12, 2023
Orofacial cleft1May 11, 2022
Osteofibrous dysplasia1Mar 1, 2023
Osteogenesis imperfecta type 101Mar 1, 2023
Osteogenesis imperfecta type 113Mar 1, 2023
Osteogenesis imperfecta type 151May 11, 2022
Osteogenesis imperfecta type 51May 11, 2022
Osteogenesis imperfecta type 73Mar 1, 2023
Osteogenesis imperfecta type 83Mar 1, 2023
Osteogenesis imperfecta type I4Mar 1, 2023
Osteogenesis imperfecta type III2May 11, 2022
Osteogenesis imperfecta with normal sclerae, dominant form6May 11, 2022
Osteogenesis imperfecta, perinatal lethal5Mar 1, 2023
Osteogenesis imperfecta, type 181May 11, 2022
Osteogenesis imperfecta, type 211May 11, 2022
Osteopathia striata with cranial sclerosis1May 2, 2023
Osteopenia1May 11, 2022
Osteoporosis with pseudoglioma2May 11, 2022
Osteoporosis, childhood- or juvenile-onset, with developmental delay1Mar 1, 2023
Ovarian dysgenesis 101Mar 1, 2023
PEHO-like syndrome1May 11, 2022
PGM1-congenital disorder of glycosylation1Mar 1, 2023
PHARC syndrome1May 11, 2022
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1May 11, 2022
PMM2-congenital disorder of glycosylation2Mar 1, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Mar 1, 2023
Pallister-Hall syndrome1May 11, 2022
Pancreatic cancer, susceptibility to, 21Mar 1, 2023
Pancreatic cancer, susceptibility to, 31Mar 1, 2023
Pancytopenia due to IKZF1 mutations2Mar 1, 2023
Papillary renal cell carcinoma type 11Mar 1, 2023
Paragangliomas 21Mar 1, 2023
Paragangliomas 42May 11, 2022
Paramyotonia congenita of Von Eulenburg2May 11, 2022
Parenti-mignot neurodevelopmental syndrome1Mar 1, 2023
Parietal foramina1May 11, 2022
Pelizaeus-Merzbacher disease2Mar 1, 2023
Peripheral neuropathy1May 11, 2022
Periventricular nodular heterotopia 91Jun 6, 2023
Peroxisome biogenesis disorder 7A (Zellweger)1May 2, 2023
Peters plus syndrome2Mar 1, 2023
Peutz-Jeghers syndrome4May 2, 2023
Phelan-McDermid syndrome4Mar 1, 2023
Phenylketonuria4Jan 30, 2024
Pheochromocytoma4May 2, 2023
Pigmentary pallidal degeneration1May 11, 2022
Pigmented paravenous retinochoroidal atrophy1Mar 1, 2023
Pilarowski-Bjornsson syndrome1Mar 1, 2023
Pitt-Hopkins syndrome1May 11, 2022
Platelet-activating factor acetylhydrolase deficiency1May 2, 2023
Pleural effusion1May 11, 2022
Poirier-Bienvenu neurodevelopmental syndrome2May 2, 2023
Polycystic kidney disease 21May 2, 2023
Polycystic kidney disease 44Mar 1, 2023
Polycystic kidney disease, adult type1Mar 1, 2023
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal1Mar 1, 2023
Pontocerebellar hypoplasia type 1B2Mar 1, 2023
Pontocerebellar hypoplasia type 31May 2, 2023
Pontocerebellar hypoplasia type 71May 11, 2022
Potassium-aggravated myotonia2May 11, 2022
Precocious puberty, central, 21Mar 1, 2023
Premature ovarian failure 151Mar 1, 2023
Primary ciliary dyskinesia 141Mar 1, 2023
Primary ciliary dyskinesia 152Mar 1, 2023
Primary ciliary dyskinesia 172Mar 1, 2023
Primary ciliary dyskinesia 222Mar 1, 2023
Primary ciliary dyskinesia 241May 11, 2022
Primary ciliary dyskinesia 252Mar 1, 2023
Primary ciliary dyskinesia 32Mar 1, 2023
Primary ciliary dyskinesia 51Mar 1, 2023
Primary ciliary dyskinesia 72Mar 1, 2023
Primary dilated cardiomyopathy1Jun 12, 2023
Primary intraosseous venous malformation1May 11, 2022
Primrose syndrome1May 11, 2022
Progressive congenital scoliosis1May 11, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12Mar 1, 2023
Progressive familial intrahepatic cholestasis type 33Mar 1, 2023
Progressive gait ataxia1May 11, 2022
Progressive microcephaly1May 11, 2022
Progressive myositis ossificans1May 11, 2022
Progressive peripheral neuropathy1May 11, 2022
Progressive sclerosing poliodystrophy1May 11, 2022
Prolidase deficiency1May 11, 2022
Propionic acidemia2May 11, 2022
Proportionate short stature1May 11, 2022
Proteasome-associated autoinflammatory syndrome 11May 11, 2022
Proteasome-associated autoinflammatory syndrome 31Mar 1, 2023
Proximal 16p11.2 microdeletion syndrome1Jun 12, 2023
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1May 11, 2022
Pseudohypoparathyroidism type 1C1Mar 1, 2023
Pseudohypoparathyroidism type I A1Mar 1, 2023
Ptosis, hereditary congenital, 11Mar 1, 2023
Pulmonary hypertension, primary, autosomal recessive1Mar 1, 2023
Pulmonary valve stenosis1May 11, 2022
Pyknodysostosis1Mar 1, 2023
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2Mar 1, 2023
Pyruvate carboxylase deficiency1Mar 1, 2023
Pyruvate kinase deficiency of red cells2Mar 1, 2023
RET-related disease2Dec 12, 2023
Radio-Tartaglia syndrome4Mar 1, 2023
Rafiq syndrome1Mar 1, 2023
Recessive dystrophic epidermolysis bullosa16Oct 24, 2023
Renal carnitine transport defect1May 11, 2022
Renal coloboma syndrome1May 11, 2022
Renal tubular acidosis with progressive nerve deafness1Mar 1, 2023
Renal-hepatic-pancreatic dysplasia 21May 11, 2022
Respiratory papillomatosis, juvenile recurrent, congenital1May 2, 2023
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome1May 2, 2023
Retinitis pigmentosa 621Mar 1, 2023
Retinoblastoma3Jun 12, 2023
Rett syndrome4Mar 1, 2023
Rhizomelic chondrodysplasia punctata type 21May 2, 2023
Ritscher-Schinzel syndrome 12Mar 1, 2023
Ritscher-Schinzel syndrome 21Mar 1, 2023
Ritscher-Schinzel syndrome 41Mar 1, 2023
Roifman syndrome2Mar 1, 2023
Rothmund-Thomson syndrome type 22Mar 1, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations2Mar 1, 2023
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Mar 1, 2023
SCN5A-related disease1Dec 12, 2023
SIN3A-related intellectual disability syndrome due to a point mutation2May 11, 2022
SLC35A2-congenital disorder of glycosylation1May 11, 2022
STAT3-related early-onset multisystem autoimmune disease1May 2, 2023
Sandhoff disease2Mar 1, 2023
Schaaf-Yang syndrome2Mar 1, 2023
Schwannomatosis 22Mar 1, 2023
Sclerosteosis 11Mar 1, 2023
Scoliosis4May 11, 2022
Seckel syndrome 21May 11, 2022
See cases1259Mar 21, 2024
Seizure5May 11, 2022
Seizures, benign familial neonatal, 21Mar 1, 2023
Seizures, early-onset, with neurodegeneration and brain calcifications3May 2, 2023
Sensorineural hearing loss disorder2May 11, 2022
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1Mar 1, 2023
Sessile serrated polyposis cancer syndrome1Mar 1, 2023
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1May 2, 2023
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Mar 1, 2023
Severe failure to thrive1May 11, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome4May 2, 2023
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1May 11, 2022
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1May 2, 2023
Severe intellectual disability-progressive spastic diplegia syndrome1Mar 1, 2023
Severe myoclonic epilepsy in infancy5Mar 1, 2023
Severe neonatal-onset encephalopathy with microcephaly1May 11, 2022
Severe progressive deforming recessive osteogenesis imperfecta (type III)1May 11, 2022
Shashi-Pena syndrome1Mar 1, 2023
Short neck1May 11, 2022
Short stature4May 11, 2022
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans4Mar 1, 2023
Short stature due to growth hormone secretagogue receptor deficiency2Mar 1, 2023
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11Mar 1, 2023
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1May 11, 2022
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1May 11, 2022
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1May 11, 2022
Short-rib thoracic dysplasia 16 with or without polydactyly2May 11, 2022
Shprintzen-Goldberg syndrome2May 2, 2023
Shwachman-Diamond syndrome 12Mar 1, 2023
Sialuria1May 11, 2022
Sick sinus syndrome 3, susceptibility to1May 11, 2022
Simpson-Golabi-Behmel syndrome type 21Mar 1, 2023
Skeletal dysplasia1May 11, 2022
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome1May 11, 2022
Skin vesicle1May 11, 2022
Skraban-Deardorff syndrome1Mar 1, 2023
Smith-Lemli-Opitz syndrome2May 11, 2022
Smith-Magenis syndrome1May 2, 2023
Sneddon syndrome1May 2, 2023
Snijders Blok-Campeau syndrome2Mar 1, 2023
Snijders blok-fisher syndrome1May 2, 2023
Sotos syndrome4Mar 1, 2023
Spastic paraplegia 52, autosomal recessive1May 2, 2023
Spastic paraplegia 81, autosomal recessive1May 11, 2022
Spastic paraplegia, intellectual disability, nystagmus, and obesity