U.S. flag

An official website of the United States government

Broad Center for Mendelian Genomics (Broad Institute of MIT and Harvard), Broad RDG

General information

Broad Center for Mendelian Genomics, Broad RDG
Broad Institute of MIT and Harvard
75 Ames St
Cambridge
Massachusetts
United States - 02142-1403
https://cmg.broadinstitute.org/
Organization ID: 506627

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 3135

Gene

GeneSubmissionsLast Updated
ABCA425May 3, 2023
ABCB71May 3, 2023
ABCC61Mar 10, 2020
ABCC8105Aug 16, 2023
ABCD12May 4, 2022
ACAD81Mar 10, 2020
ACADS1Mar 10, 2020
ACADVL1Jan 27, 2023
ACO21Sep 11, 2023
ACSL41May 4, 2022
ACTA14Jan 27, 2023
ACTB1May 4, 2022
ACTG21Jun 27, 2018
ACTN23Oct 2, 2023
ACTN41Mar 10, 2020
ACTR1B2Mar 1, 2024
ADA1Nov 17, 2020
ADA22May 3, 2023
ADAMTSL21May 3, 2023
ADARB12May 29, 2020
ADAT31Jun 27, 2018
ADGRG14Jan 27, 2023
ADPRS1Jan 27, 2023
ADSS12Nov 9, 2023
AFG3L21Jan 27, 2023
AGBL52Sep 29, 2021
AGL1Nov 9, 2023
AGTPBP12May 29, 2020
AGXT1Jun 27, 2018
AHDC12Jan 27, 2023
AHI16May 4, 2022
AIPL11Mar 10, 2020
ALAS21May 3, 2023
ALDH3A23May 4, 2022
ALDH7A11May 4, 2022
ALDOB1Sep 11, 2023
ALG15May 3, 2023
ALG31May 3, 2023
ALMS18May 4, 2022
ALS25May 3, 2023
AMER11May 3, 2023
AMPD22Jan 27, 2023
AMT1May 4, 2022
ANK11Mar 10, 2020
ANK32May 4, 2022
ANKRD111Jan 27, 2023
ANO511Jan 27, 2023
ANTXR21Mar 10, 2020
AP1S21May 3, 2023
AP3B22May 4, 2022
AP4E13Sep 11, 2023
AP4M11Dec 21, 2023
APBB11Mar 9, 2020
APOA51Mar 9, 2020
APOB7Mar 9, 2020
AR1Mar 10, 2020
ARFGEF21Mar 10, 2020
ARHGEF182Oct 3, 2019
ARID1A2Jan 27, 2023
ARID1B11Nov 9, 2023
ARL61Sep 29, 2021
ARMC94Mar 13, 2024
ARSA2May 3, 2023
ARSG1Jan 27, 2023
ARX1Sep 26, 2018
ASIC4-AS12Jan 27, 2023
ASL1Mar 10, 2020
ASNS8Nov 13, 2023
ASPA2Oct 3, 2019
ASPM9Jan 27, 2023
ASTN25Oct 3, 2019
ASXL34Jan 27, 2023
ATAD3A1May 4, 2022
ATCAY1Jan 27, 2023
ATM2Sep 11, 2023
ATP13A41Mar 10, 2020
ATP2B21Mar 10, 2020
ATP5MF-PTCD11Mar 10, 2020
ATP6V0A22Jan 27, 2023
ATP6V0A41Mar 10, 2020
ATP6V1B11Mar 10, 2020
ATP7B2Mar 9, 2020
ATP8A23Sep 11, 2023
ATPAF21Sep 26, 2018
ATRIP2May 3, 2023
ATRIP-TREX12May 3, 2023
ATRX4May 4, 2022
ATXN7L3-AS11May 29, 2020
AUTS21May 4, 2022
B3GALNT21Sep 26, 2018
B3GALT62Jan 27, 2023
B4GALNT11Nov 21, 2018
B9D11May 4, 2022
BAG31Sep 26, 2018
BBS17May 4, 2022
BBS121May 3, 2023
BBS210May 4, 2022
BBS44May 4, 2022
BBS51Sep 26, 2018
BCKDHA1Mar 10, 2020
BCL11A1May 3, 2023
BCL11B2Aug 29, 2022
BET12Feb 28, 2019
BET1-AS12Feb 28, 2019
BLM1Oct 3, 2019
BOLA31May 4, 2022
BRAT11May 4, 2022
BRCA13Mar 9, 2020
BRCA23Mar 9, 2020
BTD1Mar 10, 2020
BVES1May 29, 2020
C11orf652Sep 11, 2023
C12orf432Mar 9, 2020
C12orf571May 4, 2022
C17orf1071May 4, 2022
C1QTNF52Oct 3, 2019
C2CD31May 4, 2022
CACNA1A2Jan 27, 2023
CACNA1F2Sep 11, 2023
CACNA1S1May 29, 2020
CAPN335Apr 11, 2024
CAPRIN11Dec 21, 2023
CASK6Mar 28, 2024
CASP101Mar 10, 2020
CAT1Mar 10, 2020
CC2D2A3May 4, 2022
CCDC88C1Jan 27, 2023
CCN61Mar 10, 2020
CCND21Oct 3, 2019
CCNH1Mar 10, 2020
CD461Mar 10, 2020
CDAN11May 4, 2022
CDC42BPB1Mar 13, 2024
CDH21May 29, 2020
CDHR111May 3, 2023
CDK101Oct 3, 2019
CDK132Mar 13, 2024
CDKL52Nov 9, 2023
CDKN2A1Mar 10, 2020
CEL2Mar 9, 2020
CELSR12Nov 17, 2020
CENPE1May 4, 2022
CENPJ2May 4, 2022
CEP1041Jan 27, 2023
CEP29011Jan 27, 2023
CEP782Sep 11, 2023
CEP832Mar 13, 2024
CERKL6May 4, 2022
CETP1Mar 10, 2020
CFAP4103May 3, 2023
CFAP4182May 4, 2022
CFAP418-AS12May 4, 2022
CFTR1Mar 10, 2020
CHAT3May 4, 2022
CHD21Jan 27, 2023
CHD76Mar 13, 2024
CHN12Mar 13, 2024
CHRNB11Sep 11, 2023
CHRNB21Mar 10, 2020
CHRND4May 4, 2022
CHRNE1May 4, 2022
CHST31Nov 21, 2018
CLASP13Dec 21, 2023
CLCN13May 3, 2023
CLCN52Mar 10, 2020
CLCNKB1Mar 10, 2020
CLMP1Jan 27, 2023
CLN32Feb 12, 2024
CLN52May 4, 2022
CLN67May 3, 2023
CLN83May 4, 2022
CLP11Oct 3, 2019
CLPB2May 4, 2022
CLRN12May 4, 2022
CLRN1-AS12May 4, 2022
CLTC1Jan 27, 2023
CLTCL11Mar 10, 2020
CNGA12Sep 29, 2021
CNGA31Mar 10, 2020
CNGB15Sep 29, 2021
CNGB31Mar 10, 2020
CNKSR11Mar 10, 2020
CNNM41Sep 29, 2021
CNOT31Sep 11, 2023
CNTNAP11Sep 26, 2018
CNTNAP21Sep 11, 2023
COG53Nov 17, 2020
COL11A11Dec 21, 2023
COL12A12May 3, 2023
COL13A14May 3, 2023
COL4A13May 4, 2022
COL4A21Jan 27, 2023
COL4A31May 3, 2023
COL4A53May 4, 2022
COL6A12May 3, 2023
COL6A29Sep 11, 2023
COL6A37Dec 21, 2023
COL7A11Mar 1, 2024
COLQ5Sep 11, 2023
COQ22May 3, 2023
COQ8A2Nov 9, 2023
CPEB1-AS12May 4, 2022
CPLANE18Oct 3, 2019
CPOX1Jan 27, 2023
CPS11Mar 10, 2020
CRB112Sep 11, 2023
CREBBP4Sep 11, 2023
CRPPA1Oct 3, 2019
CRX2Sep 11, 2023
CRYGC2Mar 10, 2020
CRYGD1Mar 10, 2020
CTNNA11Mar 1, 2024
CTNNB11Nov 9, 2023
CTNND11Jan 27, 2023
CUX14Mar 1, 2024
CWF19L11Oct 3, 2019
CYFIP21May 29, 2020
CYP1B11Mar 10, 2020
CYP27A11Mar 10, 2020
CYP2U12May 3, 2023
CYP7B11Nov 21, 2018
CZ1P-ASNS8Nov 13, 2023
DCC5Sep 11, 2023
DCX3Nov 9, 2023
DDC1Nov 21, 2018
DDX3X5May 3, 2023
DEGS12Jan 27, 2023
DES3Sep 11, 2023
DHDDS4May 4, 2022
DIAPH11Nov 21, 2018
DLG41Jan 27, 2023
DMC11Mar 10, 2020
DMD14Nov 13, 2023
DNAJB61Sep 26, 2018
DNAJC121Jan 27, 2023
DNAJC211Oct 3, 2019
DNM11May 3, 2023
DNMT3A1May 3, 2023
DOK71Nov 9, 2023
DSP1Mar 9, 2020
DUOX21Mar 10, 2020
DUSP291Jan 27, 2023
DYNC1I22May 29, 2020
DYNC2H11Jan 27, 2023
DYRK1A2Mar 13, 2024
DYSF28Sep 11, 2023
EBF33Jan 27, 2023
ECEL11Mar 13, 2024
ECHS12Nov 17, 2020
ECI11Mar 10, 2020
EDN31Mar 10, 2020
EDNRB1Mar 10, 2020
EDNRB-AS11Mar 10, 2020
EEF21Jan 27, 2023
EFHC21Mar 10, 2020
EFNB12May 3, 2023
EHMT11Nov 9, 2023
EIF2AK21Mar 11, 2020
EMC12May 3, 2023
EMC1-AS11May 3, 2023
EMD1Sep 11, 2023
ENG1Mar 10, 2020
ENPP11Mar 10, 2020
EP3001May 29, 2020
EPCAM1Nov 21, 2018
EPG53May 3, 2023
EPM2A1Mar 29, 2024
EPM2A-DT1Mar 29, 2024
EPOR1Mar 10, 2020
ERCC6L21May 3, 2023
ERLIN11May 3, 2023
EXOSC31Oct 3, 2019
EXOSC82Oct 3, 2019
EXOSC91Oct 5, 2020
EYS25Sep 11, 2023
F81Mar 10, 2020
FAM161A2Sep 29, 2021
FANCA4Sep 11, 2023
FAT43May 3, 2023
FBN12Mar 9, 2020
FBXL31Oct 3, 2019
FBXL42May 3, 2023
FER2Mar 1, 2024
FGD11Mar 13, 2024
FGF211Mar 1, 2024
FHL11Sep 11, 2023
FIG42May 29, 2020
FKBP142Jan 27, 2023
FKBP14-AS12Jan 27, 2023
FKRP2May 29, 2020
FLNC3May 3, 2023
FLNC-AS11Oct 3, 2019
FLVCR12Sep 29, 2021
FOLR12Jan 27, 2023
FOXC11Nov 17, 2020
FOXF11Jan 27, 2023
FOXG13Mar 13, 2024
FOXL22Mar 13, 2024
FOXP11May 3, 2023
FOXP31May 3, 2023
FRAS11Mar 10, 2020
FRMPD41Nov 21, 2018
FTL2May 3, 2023
FUCA11Nov 21, 2018
FUT21Mar 10, 2020
FUT63Mar 10, 2020
FXR13Nov 17, 2020
FYCO11May 3, 2023
FZD41Mar 10, 2020
G6PD2Mar 10, 2020
GAA212Jan 27, 2023
GABRA11May 3, 2023
GALC3Mar 10, 2020
GAMT28Sep 13, 2022
GAN1May 3, 2023
GATA31May 29, 2020
GATA41Mar 10, 2020
GBA145Mar 9, 2020
GBE147Dec 5, 2023
GCK27Mar 9, 2020
GCKR1Mar 10, 2020
GDAP11May 3, 2023
GFPT11May 3, 2023
GH-LCR1Mar 10, 2020
GHR1May 3, 2023
GJC21Nov 21, 2018
GLA29Mar 9, 2020
GLDC1Mar 10, 2020
GLDN2Oct 3, 2019
GLI21Mar 10, 2020
GLI31May 3, 2023
GLRA12May 3, 2023
GLRA21Dec 21, 2023
GMPPB1May 3, 2023
GNAO11Oct 2, 2023
GNAS5Mar 1, 2024
GNAS-AS12Mar 1, 2024
GNAT11Sep 29, 2021
GNB11May 4, 2022
GNPTAB1Mar 10, 2020
GOT22May 29, 2020
GPHN7May 29, 2020
GREB1L2Jan 27, 2023
GRID21Sep 11, 2023
GRIN11Oct 3, 2019
GRIN2A1May 22, 2024
GUCY2D2Jan 27, 2023
GYG12May 3, 2023
GYS21Jan 27, 2023
H1-41Oct 3, 2019
H3-3B1Nov 17, 2020
HADH9Nov 2, 2021
HBB2May 3, 2023
HDAC81May 3, 2023
HEXA1Mar 10, 2020
HEXB1Sep 11, 2023
HGSNAT2Sep 29, 2021
HIBCH1Nov 21, 2018
HK12May 29, 2020
HNF1A42Mar 9, 2020
HNF1B16Dec 21, 2023
HNF4A12Mar 10, 2020
HNRNPH21Mar 9, 2020
HNRNPK3Mar 13, 2024
HNRNPK-AS12May 3, 2023
HNRNPU1May 29, 2020
HOXB11Sep 26, 2018
HPS130Feb 11, 2022
HPS49Jan 27, 2023
HR1Mar 10, 2020
HRAS1Mar 1, 2024
HS6ST11Mar 10, 2020
HSD11B11Mar 10, 2020
HSD11B1-AS11Mar 10, 2020
HSPB81May 29, 2020
HSPG22Nov 21, 2018
HTRA21Mar 10, 2020
HYCC11Sep 26, 2018
IARS11May 3, 2023
IDH3A2Sep 29, 2021
IDUA34Dec 11, 2023
IFIH11Jun 27, 2018
IFT1406Sep 11, 2023
IFT1723Sep 29, 2021
IGHMBP23May 3, 2023
IMPG21May 3, 2023
INCA12Oct 3, 2019
INHA1Mar 10, 2020
INPP5E3May 3, 2023
INSR1Mar 10, 2020
IRF2BPL2Aug 29, 2022
ITGA21Mar 10, 2020
ITPA1May 3, 2023
ITPR11Oct 3, 2019
KANSL13May 22, 2024
KAT6B4Jan 27, 2023
KCNB12May 22, 2024
KCNJ102Jan 27, 2023
KCNQ11Mar 9, 2020
KDM5B1May 3, 2023
KDM5C1Oct 3, 2019
KDM82Nov 17, 2020
KIAA05862Mar 13, 2024
KIDINS2202May 3, 2023
KIF116May 3, 2023
KIF141May 29, 2020
KIF1A1Oct 3, 2019
KIF1C3Jan 27, 2023
KIF21A2Mar 13, 2024
KIF21B1Mar 13, 2024
KIF5B1Feb 8, 2023
KIF5C3Mar 1, 2024
KIFBP2Mar 13, 2024
KIT1Mar 10, 2020
KIZ1Jun 5, 2023
KLB1Mar 1, 2024
KLF9-DT1Nov 17, 2020
KLHL71Sep 29, 2021
KMT2A3May 3, 2023
KMT2D4Mar 13, 2024
KMT2E32Feb 11, 2019
KRT81Mar 10, 2020
KRTCAP31Sep 29, 2021
L1CAM1May 3, 2023
LAMA11Jan 27, 2023
LAMA26May 3, 2023
LAMA51Nov 17, 2020
LAMB12May 3, 2023
LAMB21Sep 26, 2018
LAMC32Oct 3, 2019
LARP71May 3, 2023
LCA51Sep 29, 2021
LDB31Jan 27, 2023
LDLR65Mar 9, 2020
LDLR-AS11Mar 9, 2020
LIX1L-AS11Oct 3, 2019
LMNA5Mar 9, 2020
LMNB21Mar 10, 2020
LMOD31Jan 27, 2023
LNPK1Jan 27, 2023
LOC1002879448Jan 27, 2023
LOC1005074433Mar 10, 2020
LOC1019271572Sep 29, 2021
LOC1027240582Mar 13, 2024
LOC1053710463Jan 27, 2023
LOC1053783112Jan 27, 2023
LOC1054476451Mar 10, 2020
LOC1060990622May 3, 2023
LOC1065017131Mar 10, 2020
LOC10662798142Mar 9, 2020
LOC1071335102May 3, 2023
LOC1086639841May 3, 2023
LOC1092792471Mar 1, 2024
LOC1100112161Mar 13, 2024
LOC1101212691Mar 9, 2020
LOC1101214712Aug 16, 2023
LOC1120427851Jan 27, 2023
LOC1124862231Jan 27, 2023
LOC1129975401May 3, 2023
LOC1268057932Sep 29, 2021
LOC1268058222Jan 27, 2023
LOC1268058511Oct 3, 2019
LOC1268061731Sep 29, 2021
LOC1268064201May 3, 2023
LOC1268064211Jan 27, 2023
LOC1268069511Nov 9, 2023
LOC1268603921Sep 29, 2021
LOC1268609702Jan 25, 2024
LOC1268609712Jan 25, 2024
LOC1268612422Nov 17, 2020
LOC1268613391Mar 9, 2020
LOC1268618972May 3, 2023
LOC1268621152Oct 3, 2019
LOC1268622641Jul 1, 2017
LOC1268624731Jan 27, 2023
LOC1268625492Mar 9, 2020
LOC1268626731Nov 17, 2020
LOC1268627572Nov 13, 2023
LOC1268629021Jan 27, 2023
LOC1268632581Oct 3, 2019
LOC1299312991Nov 17, 2020
LOC1299315971Sep 26, 2018
LOC1299340691Sep 26, 2018
LOC1299350261Jan 27, 2023
LOC1299351831May 3, 2023
LOC1299938811Jan 27, 2023
LOC1299973811Mar 29, 2024
LOC1300007842May 4, 2022
LOC1300050231Nov 17, 2020
LOC1300091171Jan 27, 2023
LOC1300095811Oct 3, 2019
LOC1300553872Sep 29, 2021
LOC1300569211Sep 26, 2018
LOC1300615241Jan 27, 2023
LOC1300618971Mar 9, 2020
LOC1300629454Nov 2, 2021
LOC1300655091Jun 5, 2023
LONP12Oct 3, 2019
LOXL31Mar 10, 2020
LPA1Mar 10, 2020
LPIN21Mar 10, 2020
LPL5Mar 9, 2020
LRRC561Mar 1, 2024
LRRK21Mar 10, 2020
LSM11May 29, 2020
LYST2Oct 3, 2019
LYZ1Mar 10, 2020
LZTR12May 3, 2023
MACF12Mar 13, 2024
MAFB2Mar 13, 2024
MAGEL21May 29, 2020
MAK1Sep 11, 2023
MAMLD11Mar 10, 2020
MBD51Aug 29, 2022
MBOAT71May 29, 2020
MC4R13Mar 9, 2020
MCEE1Mar 10, 2020
MCM3AP4Mar 13, 2024
MCM3AP-AS13Mar 13, 2024
MCOLN11Nov 21, 2018
MDM11Aug 31, 2023
MECOM2May 17, 2023
MED121May 3, 2023
MEFV2Mar 10, 2020
MERTK7Sep 11, 2023
MFF-DT1May 3, 2023
MFRP2Oct 3, 2019
MFSD84Sep 11, 2023
MGAT22Sep 26, 2018
MHRT3May 3, 2023
MILR11Mar 10, 2020
MIPEP1Nov 9, 2023
MIR302CHG1May 3, 2023
MIR46851Feb 11, 2022
MKS12May 3, 2023
MLC12Nov 21, 2018
MOCS21Jan 27, 2023
MPO1Mar 10, 2020
MSH21Mar 9, 2020
MSL31Sep 11, 2023
MSR11Mar 10, 2020
MSTO16Jan 27, 2023
MTM13Sep 11, 2023
MUSK1May 3, 2023
MVK1Mar 10, 2020
MYBPC32Oct 3, 2019
MYH105Mar 1, 2024
MYH22May 3, 2023
MYH77May 3, 2023
MYHAS2May 3, 2023
MYMK3Nov 17, 2020
MYO15B2Dec 21, 2023
MYPN1Mar 10, 2020
MYRF1May 29, 2020
MZT2B1Mar 13, 2024
NALCN3May 3, 2023
NBEAL21May 3, 2023
NCF21Mar 10, 2020
NDUFA121Oct 3, 2019
NDUFAF62May 3, 2023
NDUFV13Nov 17, 2020
NEB19May 3, 2023
NES1Mar 1, 2024
NF11Mar 10, 2020
NF21Mar 9, 2020
NFIA2Jan 27, 2023
NFIX1Jan 27, 2023
NGLY11Sep 11, 2023
NHLRC11Oct 3, 2019
NKX2-51Mar 10, 2020
NLGN4X1May 3, 2023
NLRP142Mar 10, 2020
NOTCH22May 29, 2020
NOTCH31Dec 21, 2023
NPC12Oct 3, 2019
NPHP11Mar 10, 2020
NPHP33May 3, 2023
NPHP3-ACAD115May 3, 2023
NPHP43Sep 29, 2021
NPHS18Sep 11, 2023
NPHS22Oct 3, 2019
NR2E32Sep 29, 2021
NR2F11May 3, 2023
NR2F1-AS11May 3, 2023
NR5A11May 22, 2024
NRL2Sep 29, 2021
NSD12May 3, 2023
NSUN23May 3, 2023
NTF41Mar 10, 2020
NTNG22May 29, 2020
NTRK11Jan 27, 2023
NUP933Oct 3, 2019
OCLN2May 3, 2023
OCRL2May 3, 2023
ODAD21Mar 13, 2024
OFD12May 29, 2020
OGT1May 29, 2020
OPA12Mar 13, 2024
OPHN11May 3, 2023
OTC1Mar 9, 2020
OTOF1Mar 10, 2020
OTUD6B2Mar 13, 2024
OTX21Jan 27, 2023
PAFAH1B12Jun 27, 2018
PAGE2B1May 3, 2023
PARK71Mar 10, 2020
PAX22Jan 27, 2023
PBX11May 3, 2023
PCARE5May 3, 2023
PCDH123May 3, 2023
PCDH1566Jan 27, 2023
PCDH191Nov 21, 2018
PCGF21Mar 6, 2019
PCLO1Nov 21, 2018
PCNT2May 3, 2023
PCSK94Mar 9, 2020
PDE11A1Mar 10, 2020
PDE6A5Sep 29, 2021
PDE6B17May 3, 2023
PDE6B-AS14Sep 29, 2021
PDE6C3May 3, 2023
PDHX1Jan 27, 2023
PDX16Mar 10, 2020
PEX11May 3, 2023
PEX101Mar 10, 2020
PEX161Oct 3, 2019
PEX52Jan 27, 2023
PGAP31Nov 21, 2018
PHF35Sep 29, 2021
PHGDH2May 3, 2023
PHIP1Dec 21, 2023
PHKB1Mar 10, 2020
PHOX2B1Mar 13, 2024
PHYH3Sep 29, 2021
PI4K2B1Dec 21, 2023
PIBF11Jan 27, 2023
PIEZO22Mar 13, 2024
PKD13Oct 3, 2019
PKD21Mar 10, 2020
PKHD13May 3, 2023
PKLR1Mar 10, 2020
PKP21Jan 27, 2023
PLA2G682May 3, 2023
PLCB11Oct 3, 2019
PLCB41Sep 26, 2018
PLCE12Sep 11, 2023
PLCE1-AS11Jan 27, 2023
PLEC3May 3, 2023
PLOD12May 3, 2023
PLP11Mar 10, 2020
PLUT4Mar 9, 2020
PMM21Nov 21, 2018
PMPCB1May 3, 2023
PNKP2Nov 13, 2023
PNPLA72Nov 17, 2020
PNPT12Jun 27, 2018
POC1B1Jun 27, 2018
POGZ2Jan 27, 2023
POLG21Mar 10, 2020
POLR3A73Jan 25, 2024
POLR3B38May 3, 2023
POLR3H1Sep 11, 2023
POMGNT157Jan 27, 2023
POMK2Oct 3, 2019
POMT13May 3, 2023
POMT24May 3, 2023
PORCN1Oct 3, 2019
PPARG2Mar 9, 2020
PPP2R1A1May 22, 2024
PPT15Jan 27, 2023
PQBP11May 3, 2023
PRDM161Mar 10, 2020
PRDM21Mar 10, 2020
PRF11Mar 10, 2020
PRKAG21Mar 10, 2020
PRKN2Mar 10, 2020
PROM15May 3, 2023
PROS11Mar 10, 2020
PRPF31Sep 29, 2021
PRPF3113Sep 11, 2023
PRPF31-AS13Sep 29, 2021
PRPF84Sep 29, 2021
PRPH21Sep 29, 2021
PRPS11Nov 21, 2018
PRUNE12Sep 11, 2023
PSAP2Oct 3, 2019
PTCD11Mar 10, 2020
PTEN1Jan 27, 2023
PTPN113Mar 13, 2024
PTRH21Jan 27, 2023
PURA1May 3, 2023
PYCR21Jun 27, 2018
PYROXD13May 3, 2023
PYROXD21May 3, 2023
QRICH11Dec 21, 2023
RAB3GAP14Sep 11, 2023
RAB3GAP22Jan 27, 2023
RAB9B1Mar 10, 2020
RAPSN3May 22, 2024
RARS11Nov 21, 2018
RASA11Mar 10, 2020
RBM8A1Oct 3, 2019
RDH127May 29, 2020
RELN1May 3, 2023
RERE1Oct 3, 2019
RGS91Sep 26, 2018
RHAG1Mar 10, 2020
RHO4Sep 29, 2021
RIF16May 3, 2023
RILP1Sep 29, 2021
RIT11Oct 3, 2019
RNASEH2B1Nov 21, 2018
RNASET21Oct 3, 2019
RNF143May 3, 2023
RNU4ATAC3Dec 21, 2023
RORA1May 29, 2020
RORA-AS11May 29, 2020
RP16Sep 29, 2021
RP1L11May 22, 2024
RP21Mar 10, 2020
RPE654Sep 29, 2021
RPGR33Sep 11, 2023
RPGRIP110Sep 11, 2023
RPGRIP1L2Jan 27, 2023
RPL111May 4, 2022
RPL36A-HNRNPH229Mar 9, 2020
RPS195May 22, 2024
RPS263May 3, 2023
RPS291Oct 3, 2019
RPS72May 3, 2023
RPSA1Jan 27, 2023
RTN4IP11May 13, 2020
RTTN2May 3, 2023
RYR130Mar 13, 2024
RYR23Mar 9, 2020
SACS3Nov 13, 2023
SALL11May 29, 2020
SALL41Mar 13, 2024
SAMD112Sep 29, 2021
SAMD9L1Oct 3, 2019
SAMHD11Oct 3, 2019
SBDS3May 3, 2023
SCAMP41Jun 27, 2018
SCN1A3Mar 13, 2024
SCN1A-AS12Mar 10, 2020
SCN2A3May 3, 2023
SCN4A1Mar 10, 2020
SCN5A2Mar 9, 2020
SCN9A2Mar 10, 2020
SDCCAG82Sep 26, 2018
SDHD1Mar 9, 2020
SELENON43Nov 9, 2023
SEPSECS1Nov 21, 2018
SERAC11May 3, 2023
SERPINA101Mar 10, 2020
SGCA6Sep 11, 2023
SGCB3Oct 3, 2019
SGCG5Sep 11, 2023
SH3TC22May 3, 2023
SHANK31Nov 21, 2018
SHOC21Oct 3, 2019
SIL11Mar 10, 2020
SLC12A35May 3, 2023
SLC12A51Mar 10, 2020
SLC12A61Jan 27, 2023
SLC13A516Sep 11, 2023
SLC16A21Oct 3, 2019
SLC18A31May 29, 2020
SLC19A31Sep 26, 2018
SLC1A41May 3, 2023
SLC24A21Mar 10, 2020
SLC25A121Sep 11, 2023
SLC25A222May 3, 2023
SLC25A41Sep 26, 2018
SLC26A19Dec 11, 2023
SLC26A22Mar 10, 2020
SLC26A42Mar 10, 2020
SLC2A12May 4, 2022
SLC35C11Nov 21, 2018
SLC39A141Nov 17, 2020
SLC39A81Sep 26, 2018
SLC45A12May 22, 2024
SLC4A11Mar 10, 2020
SLC5A71May 3, 2023
SLC6A191May 3, 2023
SLC6A51Mar 10, 2020
SLC6A82May 3, 2023
SMAD31Mar 9, 2020
SMAD41Jul 1, 2017
SMARCAL12Jul 1, 2017
SMARCB11May 22, 2024
SMC1A1May 3, 2023
SMPD155Mar 9, 2020
SMPD41May 29, 2020
SNHG142Sep 11, 2023
SNRNP2003Sep 29, 2021
SNX144May 3, 2023
SON3May 3, 2023
SOS11Mar 10, 2020
SPAST1May 3, 2023
SPATA222Oct 3, 2019
SPEG3Jan 27, 2023
SPG119Jan 27, 2023
SPINK11Mar 10, 2020
SPR1Sep 26, 2018
SPTA11Oct 3, 2019
SPTB3Jan 27, 2023
SPTBN21Jan 27, 2023
SPTLC11Nov 17, 2020
SQSTM11May 3, 2023
SRCAP2Jan 27, 2023
SRGAP12May 29, 2020
SRPK26Feb 11, 2019
SRPK31Dec 21, 2023
STAC31Sep 26, 2018
STIL1Jan 27, 2023
STIM12May 22, 2024
STK111Mar 9, 2020
SURF11Sep 26, 2018
SYNGAP12May 3, 2023
SYNGAP1-AS12May 3, 2023
SYNGR11Mar 10, 2020
SYT11May 29, 2020
SYT21Sep 11, 2023
SZT22Oct 7, 2022
TACO11Oct 3, 2019
TAF11Sep 26, 2018
TANGO211May 3, 2023
TAOK11Sep 11, 2023
TBC1D231May 29, 2020
TBC1D8B1May 29, 2020
TBCD6May 3, 2023
TBCK2Sep 11, 2023
TBR11Jan 27, 2023
TBX31Dec 21, 2023
TBX41May 3, 2023
TCAP2Mar 10, 2020
TCF121Jan 27, 2023
TCF44Nov 13, 2023
TCF7L21Dec 21, 2023
TCIRG11Jan 27, 2023
TCTN12Sep 26, 2018
TCTN21Jan 27, 2023
TGM11Mar 10, 2020
THOC21Sep 26, 2018
TLK11Aug 31, 2023
TLK22Aug 29, 2022
TMEM2311May 22, 2024
TMEM2372Sep 26, 2018
TMEM2401Jan 27, 2023
TMEM679May 22, 2024
TMEM941Jan 27, 2023
TMPO1Mar 10, 2020
TMPRSS68May 22, 2024
TMX2-CTNND11Jan 27, 2023
TNK21Mar 10, 2020
TNNI31Oct 3, 2019
TNNT12May 3, 2023
TNNT21Oct 3, 2019
TOGARAM12Mar 13, 2024
TONSL2May 22, 2024
TONSL-AS11May 22, 2024
TOPORS1Sep 29, 2021
TOR1A1May 3, 2023
TP531Jan 27, 2023
TP631Jul 1, 2017
TPM12Oct 3, 2019
TPM21Dec 21, 2023
TPM32May 3, 2023
TPP13May 3, 2023
TRAPPC112May 29, 2020
TRAPPC2L1Nov 17, 2020
TRAPPC41Nov 17, 2020
TRAPPC93May 3, 2023
TREX12May 3, 2023
TRIM21May 3, 2023
TRIM325Oct 3, 2019
TRIM372Nov 17, 2020
TRIP41May 29, 2020
TRIT11May 4, 2022
TRPM11Sep 26, 2018
TRPM31Nov 17, 2020
TRPV42Mar 13, 2024
TRRAP1May 3, 2023
TSC21Mar 9, 2020
TSEN541Oct 3, 2019
TSPAN153Jan 27, 2023
TTC191Sep 11, 2023
TTC21B3Mar 10, 2020
TTC21B-AS11Jul 1, 2017
TTC36-AS11May 3, 2023
TTN38Dec 21, 2023
TTN-AS122Dec 21, 2023
TUBA1A14May 22, 2024
TUBA1B1Mar 13, 2024
TUBA3E1Mar 13, 2024
TUBA4A3Mar 13, 2024
TUBA4B1Mar 13, 2024
TUBA81Mar 13, 2024
TUBB2Mar 13, 2024
TUBB2A2May 22, 2024
TUBB2B6May 22, 2024
TUBB34Mar 13, 2024
TUBB4A1Mar 13, 2024
TUBB62Mar 13, 2024
TUBD11Mar 13, 2024
TUBG14May 22, 2024
TUBGCP41May 3, 2023
TULP18May 3, 2023
TWIST11Mar 13, 2024
UBA52Jun 27, 2018
UBE2A1Sep 11, 2023
UBE3A2Sep 11, 2023
UBE3B1May 3, 2023
UBE4A1Jan 27, 2023
UBTF1May 29, 2020
UMOD1Jan 27, 2023
UNC801Nov 21, 2018
USH2A46Jan 27, 2023
USH2A-AS13Sep 29, 2021
USH2A-AS22Sep 29, 2021
USP181May 3, 2023
USP71Jan 27, 2023
USP9X3May 3, 2023
UTP41Mar 10, 2020
VARS14May 22, 2024
VDR1Sep 26, 2018
VLDLR2Oct 3, 2019
VPS112Nov 17, 2020
VPS13B8May 3, 2023
VPS13D2May 22, 2024
VPS391Dec 21, 2023
VRK12Jan 27, 2023
WARS22Nov 17, 2020
WARS2-AS11Nov 17, 2020
WDR194May 22, 2024
WDR361Mar 10, 2020
WDR41May 29, 2020
WDR451May 22, 2024
WDR51Mar 13, 2024
WDR622May 22, 2024
WDR732May 22, 2024
WFS13Nov 9, 2023
WT11May 3, 2023
WWOX4Sep 11, 2023
XDH1Mar 10, 2020
YARS21Oct 3, 2019
ZBTB189May 22, 2024
ZBTB201May 22, 2024
ZC4H26May 3, 2023
ZDHHC245May 4, 2022
ZEB26Jan 27, 2023
ZFHX31Dec 21, 2023
ZFHX3-AS11Dec 21, 2023
ZFYVE261May 29, 2020
ZMIZ11Jan 27, 2023
ZNF2761May 3, 2023
ZNF2921May 3, 2023
ZNF3351May 3, 2023
ZNF4625Mar 13, 2024
ZNF6991Nov 17, 2020
ZNHIT31May 29, 2020

Condition

NameSubmissionsLast Updated
15q11q13 microduplication syndrome1Aug 29, 2022
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1May 3, 2023
3-methylglutaconic aciduria, type VIIB2May 4, 2022
3p- syndrome1Aug 29, 2022
46,XY sex reversal 31May 22, 2024
ABCA4-related retinopathy3Jan 27, 2023
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2Jan 27, 2023
ALG1-congenital disorder of glycosylation2Oct 3, 2019
ALG3-congenital disorder of glycosylation1May 3, 2023
Aarskog syndrome1Mar 13, 2024
Abducens nerve palsy1Mar 13, 2024
Abnormal retinal morphology1Mar 10, 2020
Abnormality of the outer ear1Mar 6, 2019
Acatalasia1Mar 10, 2020
Achromatopsia 21Mar 10, 2020
Acquired partial lipodystrophy1Mar 10, 2020
Actin accumulation myopathy3Jan 27, 2023
Adrenoleukodystrophy1Oct 3, 2019
Adult polyglucosan body disease6Feb 11, 2022
Agenesis of the corpus callosum with peripheral neuropathy3Jan 27, 2023
Aicardi-Goutieres syndrome 12May 3, 2023
Aicardi-Goutieres syndrome 21Nov 21, 2018
Aicardi-Goutieres syndrome 51Oct 3, 2019
Aicardi-Goutieres syndrome 71Jun 27, 2018
Al Kaissi syndrome1Oct 3, 2019
Allan-Herndon-Dudley syndrome1Oct 3, 2019
Alport syndrome1May 3, 2023
Alstrom syndrome4May 4, 2022
Alveolar capillary dysplasia with pulmonary venous misalignment1Jan 27, 2023
Amyotrophic lateral sclerosis type 2, juvenile1May 3, 2023
Amyotrophic lateral sclerosis type 222Mar 13, 2024
Androgen resistance syndrome1Mar 10, 2020
Anemia, congenital dyserythropoietic, type 1a1May 4, 2022
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Mar 10, 2020
Angelman syndrome3Sep 11, 2023
Argininosuccinate lyase deficiency1Mar 10, 2020
Arrhythmogenic right ventricular dysplasia 91Jan 27, 2023
Arterial calcification, generalized, of infancy, 11Mar 10, 2020
Arthrogryposis multiplex congenita 51May 3, 2023
Arthrogryposis, distal, type 1A1Dec 21, 2023
Arthrogryposis, distal, with impaired proprioception and touch1Jan 27, 2023
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1Mar 13, 2024
Arts syndrome1Nov 21, 2018
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Jan 27, 2023
Ataxia-pancytopenia syndrome1Oct 3, 2019
Ataxia-telangiectasia syndrome2Sep 11, 2023
Au-Kline syndrome3Mar 13, 2024
Auriculocondylar syndrome 21Sep 26, 2018
Autism3Dec 21, 2023
Autism, susceptibility to, X-linked 21May 3, 2023
Autosomal dominant Parkinson disease 81Mar 10, 2020
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1Sep 26, 2018
Autosomal dominant nocturnal frontal lobe epilepsy 31Mar 10, 2020
Autosomal dominant nonsyndromic hearing loss 61Mar 10, 2020
Autosomal recessive ataxia due to ubiquinone deficiency1Nov 9, 2023
Autosomal recessive cerebellar ataxia1May 3, 2023
Autosomal recessive congenital ichthyosis 11Mar 10, 2020
Autosomal recessive distal spinal muscular atrophy 13May 3, 2023
Autosomal recessive juvenile Parkinson disease 22Mar 10, 2020
Autosomal recessive limb-girdle muscular dystrophy5Feb 22, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2A30Apr 11, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2B26Sep 11, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2C5Sep 11, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2D6Sep 11, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2E2Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2G1Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2I1Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2J20May 3, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2L8Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2N3May 3, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2O1Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2U1Oct 3, 2019
Autosomal recessive nonsyndromic hearing loss 91Mar 10, 2020
Autosomal recessive osteopetrosis 11Jan 27, 2023
Autosomal recessive polycystic kidney disease5May 3, 2023
Autosomal recessive primary microcephaly1May 3, 2023
Autosomal recessive spinocerebellar ataxia 141Jan 27, 2023
Autosomal recessive spinocerebellar ataxia 171Oct 3, 2019
Autosomal recessive spinocerebellar ataxia 181Sep 11, 2023
Autosomal recessive spinocerebellar ataxia 204May 3, 2023
Autosomal recessive spinocerebellar ataxia 71Jan 27, 2023
Bailey-Bloch congenital myopathy3Mar 10, 2020
Baraitser-Winter syndrome 11May 4, 2022
Bardet-Biedl syndrome1Jul 1, 2017
Bardet-Biedl syndrome 11May 4, 2022
Bardet-Biedl syndrome 121May 3, 2023
Bardet-Biedl syndrome 163Mar 10, 2020
Bardet-Biedl syndrome 22Sep 26, 2018
Bardet-Biedl syndrome 42May 4, 2022
Bardet-Biedl syndrome 51Sep 26, 2018
Basilicata-Akhtar syndrome1Sep 11, 2023
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Nov 21, 2018
Bethlem myopathy 1A6Sep 11, 2023
Bethlem myopathy 22May 3, 2023
Bilateral frontoparietal polymicrogyria4Jan 27, 2023
Biotin-responsive basal ganglia disease1Sep 26, 2018
Biotinidase deficiency1Mar 10, 2020
Blepharocheilodontic syndrome 21Jan 27, 2023
Blepharophimosis - intellectual disability syndrome1May 3, 2023
Blepharophimosis, ptosis, and epicanthus inversus syndrome1Mar 13, 2024
Bloom syndrome1Oct 3, 2019
Bone marrow failure syndrome 31Oct 3, 2019
Bone marrow failure syndrome 51Jan 27, 2023
Bosch-Boonstra-Schaaf optic atrophy syndrome1May 3, 2023
Bradyopsia1Sep 26, 2018
Brain malformations with or without urinary tract defects3Sep 11, 2023
Brain small vessel disease 1 with or without ocular anomalies3May 4, 2022
Breast-ovarian cancer, familial, susceptibility to, 23Mar 9, 2020
Brown syndrome4Mar 13, 2024
CDKL5 disorder1Nov 9, 2023
CEP290-related ciliopathy1Jan 27, 2023
CHARGE syndrome5Mar 13, 2024
CODAS syndrome2Oct 3, 2019
COG5-congenital disorder of glycosylation3Nov 17, 2020
Capillary malformation-arteriovenous malformation 11Mar 10, 2020
Cataract 181May 3, 2023
Cataract 2, multiple types1Mar 10, 2020
Cayman type cerebellar ataxia1Jan 27, 2023
Central core myopathy13May 3, 2023
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease1Mar 13, 2024
Cerebellar ataxia2Dec 21, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12Oct 3, 2019
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 43Sep 11, 2023
Cerebellar atrophy, visual impairment, and psychomotor retardation;2May 3, 2023
Cerebral atrophy1Oct 5, 2020
Cerebral creatine deficiency syndrome28Sep 13, 2022
Cerebral folate transport deficiency2Jan 27, 2023
Cerebral hypomyelination2May 29, 2020
Ceroid lipofuscinosis, neuronal, 6A4Jan 27, 2023
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)1Mar 10, 2020
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Mar 10, 2020
Charcot-Marie-Tooth disease axonal type 2C1Mar 10, 2020
Charcot-Marie-Tooth disease axonal type 2X1Jan 27, 2023
Charcot-Marie-Tooth disease recessive intermediate A1May 3, 2023
Charcot-Marie-Tooth disease type 2R1May 3, 2023
Charcot-Marie-Tooth disease type 4C2May 3, 2023
Charlevoix-Saguenay spastic ataxia3Nov 13, 2023
Childhood onset GLUT1 deficiency syndrome 21May 4, 2022
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1May 29, 2020
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome1Jan 27, 2023
Cholestanol storage disease1Mar 10, 2020
Chorea2Jun 1, 2020
Chromosome 13q33-q34 deletion syndrome1Sep 11, 2023
Chromosome 15q13.3 microdeletion syndrome1Aug 29, 2022
Chromosome 16p11.2 duplication syndrome1Aug 29, 2022
Chromosome 17p13.3 duplication syndrome1Sep 11, 2023
Chromosome 17q12 deletion syndrome1Sep 11, 2023
Chromosome 22q11.2 deletion syndrome, distal1May 22, 2023
Chromosome 22q11.2 microduplication syndrome1May 22, 2023
Chromosome 22q13 duplication syndrome1Aug 29, 2022
Chromosome 3q13.31 deletion syndrome1Sep 11, 2023
Chromosome 4q21 deletion syndrome1Sep 11, 2023
Chédiak-Higashi syndrome2Oct 3, 2019
Ciliopathy2Mar 13, 2024
Cobblestone lissencephaly without muscular or ocular involvement2May 3, 2023
Coenzyme Q10 deficiency, primary, 12May 3, 2023
Coffin-Siris syndrome3May 22, 2024
Coffin-Siris syndrome 112Nov 9, 2023
Cohen syndrome8May 3, 2023
Collagen 6-related myopathy1May 3, 2023
Combined PSAP deficiency1Jul 1, 2017
Combined oxidative phosphorylation defect type 132Jun 27, 2018
Combined oxidative phosphorylation deficiency 351May 4, 2022
Complex I deficiency1Mar 10, 2020
Complex cortical dysplasia with other brain malformations 44May 22, 2024
Complex cortical dysplasia with other brain malformations 52May 22, 2024
Complex cortical dysplasia with other brain malformations 61May 3, 2023
Complex cortical dysplasia with other brain malformations 76May 22, 2024
Complex neurodevelopmental disorder1May 29, 2020
Cone dystrophy 43May 3, 2023
Cone-rod dystrophy 124May 3, 2023
Cone-rod dystrophy 131Sep 11, 2023
Cone-rod dystrophy 156May 3, 2023
Cone-rod dystrophy 161May 4, 2022
Cone-rod dystrophy 23Sep 11, 2023
Cone-rod dystrophy 201Jun 27, 2018
Cone-rod dystrophy 34Oct 3, 2019
Cone-rod dystrophy and hearing loss1May 3, 2023
Cone-rod dystrophy and hearing loss 11Sep 11, 2023
Congenital anomalies of kidney and urinary tract 11May 29, 2020
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1May 3, 2023
Congenital anomaly of kidney and urinary tract3May 29, 2020
Congenital diarrhea 5 with tufting enteropathy1Nov 21, 2018
Congenital disorder of deglycosylation 11Sep 11, 2023
Congenital disorder of glycosylation1May 4, 2022
Congenital disorder of glycosylation type I1May 3, 2023
Congenital fibrosis of extraocular muscles9Mar 13, 2024
Congenital fibrosis of extraocular muscles type 11Mar 13, 2024
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Mar 13, 2024
Congenital hydrocephalus1Jan 27, 2023
Congenital hyperammonemia, type I1Mar 10, 2020
Congenital isolated hyperinsulinism1Aug 16, 2023
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome8Nov 13, 2023
Congenital multicore myopathy with external ophthalmoplegia1Jan 27, 2023
Congenital muscular dystrophy due to LMNA mutation1Sep 26, 2018
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome1May 29, 2020
Congenital muscular hypertrophy-cerebral syndrome1May 3, 2023
Congenital myasthenic syndrome 101Nov 9, 2023
Congenital myasthenic syndrome 112May 22, 2024
Congenital myasthenic syndrome 121May 3, 2023
Congenital myasthenic syndrome 194May 3, 2023
Congenital myasthenic syndrome 211May 29, 2020
Congenital myasthenic syndrome 2C1Sep 11, 2023
Congenital myasthenic syndrome 3A1May 4, 2022
Congenital myasthenic syndrome 3B2May 4, 2022
Congenital myasthenic syndrome 3C1May 4, 2022
Congenital myasthenic syndrome 4A1May 4, 2022
Congenital myasthenic syndrome 55Sep 11, 2023
Congenital myopathy5Dec 21, 2023
Congenital myopathy with fiber type disproportion2May 3, 2023
Congenital myotonia, autosomal dominant form1May 4, 2022
Congenital myotonia, autosomal recessive form2May 3, 2023
Congenital nonprogressive myopathy with Moebius and Robin sequences3Nov 17, 2020
Congenital omphalocele1Nov 17, 2020
Congenital short bowel syndrome, autosomal recessive1Jan 27, 2023
Congenital stationary night blindness 1C1Sep 26, 2018
Cornelia de Lange syndrome 51May 3, 2023
Corpus callosum, agenesis of1May 29, 2020
Cortical dysplasia-focal epilepsy syndrome1Sep 11, 2023
Cortisone reductase deficiency 21Mar 10, 2020
Coxopodopatellar syndrome1May 3, 2023
Craniofrontonasal syndrome2May 3, 2023
Creatine transporter deficiency2May 3, 2023
Cutis laxa with osteodystrophy2Jan 27, 2023
Cystic fibrosis1Mar 10, 2020
Cystic leukoencephalopathy without megalencephaly1Oct 3, 2019
DYRK1A-related intellectual disability syndrome2Mar 13, 2024
Deficiency of aromatic-L-amino-acid decarboxylase1Nov 21, 2018
Deficiency of isobutyryl-CoA dehydrogenase1Mar 10, 2020
Deletion of long arm of chromosome 181Aug 29, 2022
Deletion of short arm of chromosome 181Sep 11, 2023
Dent disease type 22May 3, 2023
Desmin-related myofibrillar myopathy2Sep 11, 2023
Developmental and epileptic encephalopathy 941Jan 27, 2023
Developmental and epileptic encephalopathy, 11Sep 26, 2018
Developmental and epileptic encephalopathy, 112Jan 27, 2023
Developmental and epileptic encephalopathy, 121Oct 3, 2019
Developmental and epileptic encephalopathy, 182Oct 7, 2022
Developmental and epileptic encephalopathy, 191May 3, 2023
Developmental and epileptic encephalopathy, 21May 4, 2022
Developmental and epileptic encephalopathy, 2516Sep 11, 2023
Developmental and epileptic encephalopathy, 262May 22, 2024
Developmental and epileptic encephalopathy, 285Sep 11, 2023
Developmental and epileptic encephalopathy, 31May 3, 2023
Developmental and epileptic encephalopathy, 311May 3, 2023
Developmental and epileptic encephalopathy, 351May 3, 2023
Developmental and epileptic encephalopathy, 391Sep 11, 2023
Developmental and epileptic encephalopathy, 422Jan 27, 2023
Developmental and epileptic encephalopathy, 442Jun 27, 2018
Developmental and epileptic encephalopathy, 482May 4, 2022
Developmental and epileptic encephalopathy, 541May 29, 2020
Developmental and epileptic encephalopathy, 651May 29, 2020
Developmental and epileptic encephalopathy, 91Nov 21, 2018
Developmental delay with or without dysmorphic facies and autism1May 3, 2023
Developmental delay with or without intellectual impairment or behavioral abnormalities1Sep 11, 2023
Developmental regression1Mar 11, 2020
Dextrocardia1May 29, 2020
DiGeorge syndrome1Sep 11, 2023
Diamond-Blackfan anemia4May 22, 2024
Diamond-Blackfan anemia 12Jan 27, 2023
Diamond-Blackfan anemia 103May 3, 2023
Diamond-Blackfan anemia 131Oct 3, 2019
Diamond-Blackfan anemia 41Sep 11, 2023
Diamond-Blackfan anemia 51Sep 11, 2023
Diamond-Blackfan anemia 71May 4, 2022
Diamond-Blackfan anemia 82May 3, 2023
Dias-Logan syndrome1May 3, 2023
Diastrophic dysplasia2Mar 10, 2020
Diencephalic-mesencephalic junction dysplasia2May 29, 2020
Diencephalic-mesencephalic junction dysplasia syndrome 11May 3, 2023
Dihydropteridine reductase deficiency2May 3, 2023
Dilated cardiomyopathy 1G1Sep 11, 2023
Dilated cardiomyopathy 1I1Mar 10, 2020
Dilated cardiomyopathy 1KK1Mar 10, 2020
Distal arthrogryposis type 5D1Mar 13, 2024
Distal myopathy with posterior leg and anterior hand involvement2May 3, 2023
Dominant beta-thalassemia1Jan 27, 2023
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Sep 26, 2018
Duane retraction syndrome17Mar 13, 2024
Duane retraction syndrome 22Mar 13, 2024
Duane syndrome type 11Mar 13, 2024
Duane-radial ray syndrome1Mar 13, 2024
Duchenne and Becker muscular dystrophy3May 3, 2023
Duchenne muscular dystrophy11Nov 13, 2023
Dystonia 51Mar 13, 2024
EAST syndrome1Jan 27, 2023
Early infantile epileptic encephalopathy with suppression bursts2May 29, 2020
Early myoclonic encephalopathy1Oct 3, 2019
Early-onset myopathy with fatal cardiomyopathy8May 3, 2023
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome6May 3, 2023
Ehlers-Danlos syndrome, kyphoscoliotic type 12May 3, 2023
Ehlers-Danlos syndrome, kyphoscoliotic type, 22Jan 27, 2023
Eichsfeld type congenital muscular dystrophy42Jan 27, 2023
Elliptocytosis 21Oct 3, 2019
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Oct 3, 2019
Encephalopathy due to GLUT1 deficiency1Sep 26, 2018
Epidermolysis bullosa simplex, Ogna type1Mar 10, 2020
Epilepsy, idiopathic generalized, susceptibility to, 141Mar 10, 2020
Epileptic encephalopathy, infantile or early childhood1May 3, 2023
Exudative vitreoretinopathy 11Mar 10, 2020
FOXG1 disorder1Mar 13, 2024
Fabry disease29Mar 9, 2020
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction2Mar 13, 2024
Facial paresis, hereditary congenital, 31Sep 26, 2018
Familial Mediterranean fever, autosomal dominant1Jul 1, 2017
Familial hemophagocytic lymphohistiocytosis 21Mar 10, 2020
Familial hypercholesterolemia28Mar 9, 2020
Familial hypobetalipoproteinemia 13Mar 9, 2020
Familial hypokalemia-hypomagnesemia5May 3, 2023
Familial infantile myasthenia2May 4, 2022
Familial isolated congenital asplenia1Jan 27, 2023
Familial juvenile hyperuricemic nephropathy type 11Jan 27, 2023
Familial partial lipodystrophy2Mar 9, 2020
Familial visceral amyloidosis, Ostertag type1Mar 10, 2020
Fanconi anemia complementation group A4Sep 11, 2023
Fetal akinesia deformation sequence 11May 3, 2023
Fetal akinesia deformation sequence 21May 22, 2024
Fetal and neonatal alloimmune thrombocytopenia1Mar 10, 2020
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Mar 13, 2024
Fibrosis of extraocular muscles, congenital, 3b1Mar 13, 2024
Finnish congenital nephrotic syndrome11Sep 11, 2023
Floating-Harbor syndrome2Jan 27, 2023
Focal dermal hypoplasia1Oct 3, 2019
Focal segmental glomerulosclerosis 72Jan 27, 2023
Fucosidosis1Nov 21, 2018
Fucosyltransferase 6 deficiency4Mar 10, 2020
GUCY2D retinopathy1Jan 27, 2023
Galactosylceramide beta-galactosidase deficiency3Mar 10, 2020
Galloway-Mowat syndrome2May 22, 2024
Galloway-Mowat syndrome 12Mar 10, 2020
Gaucher disease37Mar 9, 2020
Gaucher disease type I8Mar 9, 2020
Geleophysic dysplasia 11May 3, 2023
Genitopatellar syndrome3Jan 27, 2023
Giant axonal neuropathy 11May 3, 2023
Global developmental delay3Jun 1, 2020
Glycogen storage disease IXb1Mar 10, 2020
Glycogen storage disease type III1Nov 9, 2023
Glycogen storage disease, type II212Jan 27, 2023
Glycogen storage disease, type IV41Dec 5, 2023
Glycogen storage disorder due to hepatic glycogen synthase deficiency1Jan 27, 2023
Glycoprotein storage disease1Mar 9, 2020
Goldberg-Shprintzen syndrome2Mar 13, 2024
Gray platelet syndrome1May 3, 2023
Greig cephalopolysyndactyly syndrome1May 3, 2023
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1May 3, 2023
Hao-Fountain syndrome1Jan 27, 2023
Harderoporphyria1Jan 27, 2023
Harel-Yoon syndrome1May 4, 2022
Hemiparkinsonism-hemiatrophy syndrome1Nov 17, 2020
Hepatocellular carcinoma1Mar 10, 2020
Hereditary North American Indian childhood cirrhosis1Mar 10, 2020
Hereditary factor VIII deficiency disease1Mar 10, 2020
Hereditary fructosuria1Sep 11, 2023
Hereditary hyperferritinemia with congenital cataracts1May 3, 2023
Hereditary insensitivity to pain with anhidrosis1Jan 27, 2023
Hereditary spastic paraplegia 118Jan 27, 2023
Hereditary spastic paraplegia 261Nov 21, 2018
Hereditary spastic paraplegia 41May 3, 2023
Hereditary spastic paraplegia 501Dec 21, 2023
Hereditary spastic paraplegia 513Sep 11, 2023
Hereditary spastic paraplegia 562May 3, 2023
Hereditary spastic paraplegia 5A2Nov 21, 2018
Hereditary spastic paraplegia 621May 3, 2023
Hereditary spherocytosis type 11Mar 10, 2020
Hereditary spherocytosis type 24Jan 27, 2023
Hereditary spherocytosis type 41Mar 10, 2020
Hereditary xanthinuria type 11Mar 10, 2020
Hermansky-Pudlak syndrome30Feb 11, 2022
Hermansky-Pudlak syndrome 49Jan 27, 2023
Hirschsprung disease, susceptibility to, 41Mar 10, 2020
Holoprosencephaly 31Sep 11, 2023
Holoprosencephaly 51Sep 11, 2023
Holoprosencephaly 91Mar 10, 2020
Houge-Janssens syndrome 21May 22, 2024
Hyperalphalipoproteinemia 11Mar 10, 2020
Hypercholesterolemia, autosomal dominant, 31Mar 9, 2020
Hypercholesterolemia, autosomal dominant, type B3Mar 9, 2020
Hypercholesterolemia, familial, 139Mar 9, 2020
Hyperekplexia 12May 3, 2023
Hyperekplexia 31Mar 10, 2020
Hyperinsulinemic hypoglycemia, familial, 199Aug 16, 2023
Hyperinsulinemic hypoglycemia, familial, 49Nov 2, 2021
Hyperlipidemia, familial combined, LPL related4Mar 9, 2020
Hypermanganesemia with dystonia 21Nov 17, 2020
Hyperphenylalaninemia due to DNAJC12 deficiency1Jan 27, 2023
Hyperphosphatasia with intellectual disability syndrome 41Nov 21, 2018
Hypertelorism and tetralogy of fallot1Nov 17, 2020
Hypertriglyceridemia3Mar 10, 2020
Hypertrophic cardiomyopathy2Feb 8, 2023
Hypertrophic cardiomyopathy 21Oct 3, 2019
Hypertrophic cardiomyopathy 251Mar 10, 2020
Hypertrophic cardiomyopathy 261Oct 3, 2019
Hypertrophic cardiomyopathy 32Oct 3, 2019
Hypertrophic cardiomyopathy 42Oct 3, 2019
Hypertrophic cardiomyopathy 71Oct 3, 2019
Hypogonadotropic hypogonadism 15 with or without anosmia1Mar 10, 2020
Hypogonadotropic hypogonadism 2 with or without anosmia1Sep 11, 2023
Hypogonadotropic hypogonadism 5 with or without anosmia1Oct 3, 2019
Hypomyelinating leukodystrophy 101Jun 27, 2018
Hypomyelinating leukodystrophy 122Nov 17, 2020
Hypomyelinating leukodystrophy 21Nov 21, 2018
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism38May 3, 2023
Hypomyelinating leukodystrophy 91Nov 21, 2018
Hypomyelination and Congenital Cataract2Mar 10, 2020
Hypoparathyroidism, deafness, renal disease syndrome1May 29, 2020
Hypospadias 2, X-linked1Mar 10, 2020
Hypotonia, ataxia, and delayed development syndrome3Mar 13, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 13May 3, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Nov 21, 2018
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Sep 11, 2023
Infantile cerebellar-retinal degeneration1Sep 11, 2023
Infantile epilepsy1Mar 10, 2020
Infantile neuroaxonal dystrophy3May 3, 2023
Infantile-onset ascending hereditary spastic paralysis3May 4, 2022
Inflammatory bowel disease1Mar 10, 2020
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1May 3, 2023
Intellectual developmental disorder 621Jan 27, 2023
Intellectual developmental disorder with cardiac defects and dysmorphic facies1Jan 27, 2023
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies2Mar 13, 2024
Intellectual developmental disorder with neuropsychiatric features2May 22, 2024
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1May 29, 2020
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies2Sep 11, 2023
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities2Aug 29, 2022
Intellectual developmental disorder, X-linked, syndromic, Pilorge type1Dec 21, 2023
Intellectual developmental disorder, autosomal dominant 641May 3, 2023
Intellectual disability12May 22, 2024
Intellectual disability, X-linked 1027Sep 11, 2023
Intellectual disability, X-linked 1041Nov 21, 2018
Intellectual disability, X-linked 1061May 29, 2020
Intellectual disability, X-linked 991Mar 10, 2020
Intellectual disability, X-linked 99, syndromic, female-restricted3May 3, 2023
Intellectual disability, X-linked, syndromic 331Sep 26, 2018
Intellectual disability, autosomal dominant 11Aug 29, 2022
Intellectual disability, autosomal dominant 144Jan 27, 2023
Intellectual disability, autosomal dominant 201Sep 11, 2023
Intellectual disability, autosomal dominant 2210Oct 6, 2023
Intellectual disability, autosomal dominant 421May 4, 2022
Intellectual disability, autosomal dominant 52May 3, 2023
Intellectual disability, autosomal dominant 55, with seizures1Sep 11, 2023
Intellectual disability, autosomal dominant 561Jan 27, 2023
Intellectual disability, autosomal dominant 572Aug 29, 2022
Intellectual disability, autosomal dominant 81Oct 3, 2019
Intellectual disability, autosomal dominant 91Oct 3, 2019
Intellectual disability, autosomal recessive 133May 3, 2023
Intellectual disability, autosomal recessive 53May 3, 2023
Intellectual disability, autosomal recessive 571May 29, 2020
Intellectual disability, autosomal recessive 651May 3, 2023
Intellectual disability, autosomal recessive 662May 4, 2022
Intellectual disability-hypotonic facies syndrome, X-linked, 15May 4, 2022
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2Jan 27, 2023
Intellectual disability-severe speech delay-mild dysmorphism syndrome1May 3, 2023
Intellectual disability-strabismus syndrome1Jun 27, 2018
Interstitial 6q microdeletion syndrome1Aug 29, 2022
Iron-refractory iron deficiency anemia8May 22, 2024
Isolated Pierre-Robin syndrome1Jun 27, 2018
Jaw-winking syndrome4Mar 1, 2024
Jeune thoracic dystrophy1Jan 27, 2023
Joubert syndrome 13May 3, 2023
Joubert syndrome 101Jul 1, 2017
Joubert syndrome 132Sep 26, 2018
Joubert syndrome 142Sep 26, 2018
Joubert syndrome 1711Mar 10, 2020
Joubert syndrome 232Mar 13, 2024
Joubert syndrome 241Jan 27, 2023
Joubert syndrome 251Jan 27, 2023
Joubert syndrome 271May 4, 2022
Joubert syndrome 281May 3, 2023
Joubert syndrome 37May 4, 2022
Joubert syndrome 304Mar 13, 2024
Joubert syndrome 331Jan 27, 2023
Joubert syndrome 54May 4, 2022
Joubert syndrome 69May 22, 2024
Joubert syndrome 73Jan 27, 2023
Joubert syndrome 94May 4, 2022
Juvenile amyotrophic lateral sclerosis1May 4, 2022
KBG syndrome1Jan 27, 2023
Kabuki syndrome 15Mar 13, 2024
King Denborough syndrome2Mar 9, 2020
Kleefstra syndrome 11Nov 9, 2023
Koolen-de Vries syndrome3May 22, 2024
L-ferritin deficiency1Jan 27, 2023
L1 syndrome1May 3, 2023
LAMA2-related muscular dystrophy1May 3, 2023
LAMB2-related infantile-onset nephrotic syndrome2Mar 10, 2020
Lafora disease2Mar 29, 2024
Landau-Kleffner syndrome1May 22, 2024
Laron-type isolated somatotropin defect1May 3, 2023
Late-onset retinal degeneration2Oct 3, 2019
Lateral meningocele syndrome1Dec 21, 2023
Leber congenital amaurosis1May 29, 2020
Leber congenital amaurosis 104May 4, 2022
Leber congenital amaurosis 136May 29, 2020
Leber congenital amaurosis 21Mar 10, 2020
Leber congenital amaurosis 68Nov 17, 2020
Leber congenital amaurosis 82Oct 3, 2019
Left ventricular noncompaction 81Mar 10, 2020
Leigh syndrome4May 3, 2023
Lethal congenital contracture syndrome 112Oct 3, 2019
Lethal congenital contracture syndrome 71Sep 26, 2018
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1Nov 9, 2023
Leukocyte adhesion deficiency type II1Nov 21, 2018
Leukodystrophy41Jan 25, 2024
Leukodystrophy, hypomyelinating, 182Jan 27, 2023
Leukoencephalopathy1Mar 11, 2020
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome32Jan 25, 2024
Limb-girdle muscular dystrophy3May 29, 2020
Limb-girdle muscular dystrophy due to POMK deficiency2Oct 3, 2019
Lipodystrophy2Mar 9, 2020
Lissencephaly1May 4, 2022
Lissencephaly 9 with complex brainstem malformation1Mar 13, 2024
Lissencephaly due to LIS1 mutation2Jun 27, 2018
Lissencephaly due to TUBA1A mutation14May 22, 2024
Lissencephaly type 1 due to doublecortin gene mutation3Nov 9, 2023
Lissencephaly type 31Mar 13, 2024
Low bone mineral density1Mar 10, 2020
MED12-related intellectual disability syndrome1May 3, 2023
MGAT2-congenital disorder of glycosylation2Sep 26, 2018
MYH7-related skeletal myopathy2Oct 3, 2019
Macrocephaly2Jun 1, 2020
Macrocephaly-autism syndrome1Jan 27, 2023
Malan overgrowth syndrome1Jan 27, 2023
Maple syrup urine disease1Mar 10, 2020
Martsolf syndrome 11Jan 27, 2023
Maturity onset diabetes mellitus in young11Mar 9, 2020
Maturity-onset diabetes of the young type 18Mar 9, 2020
Maturity-onset diabetes of the young type 220Mar 9, 2020
Maturity-onset diabetes of the young type 333Mar 9, 2020
Maturity-onset diabetes of the young type 44Mar 9, 2020
Maturity-onset diabetes of the young type 82Mar 9, 2020
Meckel syndrome, type 11May 3, 2023
Meckel syndrome, type 112May 22, 2024
Meckel-Gruber-like syndrome1Mar 10, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 12Nov 21, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Sep 11, 2023
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31Oct 3, 2019
Menke-Hennekam syndrome 11Aug 29, 2022
Merosin deficient congenital muscular dystrophy3Nov 17, 2020
Metachromatic leukodystrophy2May 3, 2023
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1Mar 10, 2020
Metopic ridging-ptosis-facial dysmorphism syndrome1May 29, 2020
Microcephalic osteodysplastic primordial dwarfism type II1May 3, 2023
Microcephalic primordial dwarfism due to RTTN deficiency2May 3, 2023
Microcephalic primordial dwarfism, Alazami type1May 3, 2023
Microcephaly1Sep 11, 2023
Microcephaly 13, primary, autosomal recessive1May 4, 2022
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2May 22, 2024
Microcephaly 20, primary, autosomal recessive1May 29, 2020
Microcephaly 5, primary, autosomal recessive10Jan 27, 2023
Microcephaly 6, primary, autosomal recessive2May 4, 2022
Microcephaly 7, primary, autosomal recessive1Jan 27, 2023
Microcephaly and chorioretinopathy 31May 3, 2023
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability5May 3, 2023
Microcephaly, seizures, and developmental delay2Nov 13, 2023
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Sep 11, 2023
Mirror movements 13Sep 11, 2023
Mirror movements 1 and/or agenesis of the corpus callosum2May 3, 2023
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant3Mar 10, 2020
Mitochondrial DNA depletion syndrome 132May 3, 2023
Mitochondrial complex 1 deficiency, nuclear type 171May 3, 2023
Mitochondrial complex I deficiency2Nov 17, 2020
Mitochondrial complex I deficiency, nuclear type 11Oct 3, 2019
Mitochondrial complex III deficiency nuclear type 21Sep 11, 2023
Mitochondrial complex IV deficiency, nuclear type 11Oct 3, 2019
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11Sep 26, 2018
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome6Jan 27, 2023
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency2Nov 17, 2020
Miyoshi muscular dystrophy 31Jan 27, 2023
Monogenic diabetes19Mar 9, 2020
Mowat-Wilson syndrome6Jan 27, 2023
Mucopolysaccharidosis type 132Dec 11, 2023
Mucopolysaccharidosis, MPS-I-H/S2Oct 3, 2019
Mulibrey nanism syndrome4Nov 17, 2020
Multicentric carpo-tarsal osteolysis with or without nephropathy1Oct 3, 2019
Multicystic kidney dysplasia1May 29, 2020
Multiminicore myopathy3Dec 21, 2023
Multiple congenital anomalies/dysmorphic syndrome1Sep 11, 2023
Multiple mitochondrial dysfunctions syndrome 21May 4, 2022
Multiple mitochondrial dysfunctions syndrome 61May 3, 2023
Muscular atrophy1May 29, 2020
Muscular dystrophy1Jul 1, 2017
Muscular dystrophy, limb-girdle, autosomal recessive 232May 29, 2020
Muscular dystrophy-dystroglycanopathy53Jan 27, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Sep 26, 2018
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11Jul 1, 2017
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21Sep 26, 2018
Muscular dystrophy-dystroglycanopathy type B51May 29, 2020
Muscular dystrophy-dystroglycanopathy, type C1May 3, 2023
Myeloperoxidase deficiency1Mar 10, 2020
Myeloproliferative neoplasm1Dec 21, 2023
Myhre syndrome1Jul 1, 2017
Myofibrillar myopathy 41Jan 27, 2023
Myofibrillar myopathy 63Mar 10, 2020
Myofibrillar myopathy 83May 3, 2023
Myopathy caused by variation in GMPPB1May 3, 2023
Myopathy, centronuclear, 55Jan 27, 2023
Myopathy, congenital, with structured cores and z-line abnormalities1May 29, 2020
Myopathy, distal, 52Nov 9, 2023
Myopathy, distal, 6, adult-onset, autosomal dominant2Oct 2, 2023
Myopathy, lactic acidosis, and sideroblastic anemia 21Oct 3, 2019
Myopathy, myofibrillar, 9, with early respiratory failure1May 3, 2023
Myopathy, proximal, and ophthalmoplegia2May 3, 2023
Myopathy, tubular aggregate, 12May 22, 2024
Myosin storage myopathy4May 3, 2023
Nemaline myopathy 101Jan 27, 2023
Nemaline myopathy 219May 3, 2023
Nemaline myopathy 53May 3, 2023
Neonatal death2Oct 3, 2019
Nephronophthisis2May 29, 2020
Nephronophthisis 11Sep 11, 2023
Nephronophthisis 122Jul 1, 2017
Nephronophthisis 32Sep 26, 2018
Nephronophthisis 41Mar 10, 2020
Nephrotic syndrome1May 29, 2020
Nephrotic syndrome, type 123Oct 3, 2019
Nephrotic syndrome, type 22Oct 3, 2019
Nephrotic syndrome, type 32Sep 11, 2023
Nephrotic syndrome, type 41May 3, 2023
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1May 3, 2023
Neurodegeneration with brain iron accumulation 51May 22, 2024
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1Jan 27, 2023
Neurodevelopmental disorder16Mar 13, 2024
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures3May 4, 2022
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Jan 27, 2023
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum1Jan 27, 2023
Neurodevelopmental disorder with hypotonia, seizures, and absent language2May 29, 2020
Neurodevelopmental disorder with involuntary movements1Oct 2, 2023
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies2Sep 11, 2023
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies4Sep 11, 2023
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy4May 22, 2024
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Sep 11, 2023
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Oct 3, 2019
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Nov 17, 2020
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures2Aug 29, 2022
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2Nov 17, 2020
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 11Jan 27, 2023
Neuronal ceroid lipofuscinosis1May 3, 2023
Neuronal ceroid lipofuscinosis 12Jan 27, 2023
Neuronal ceroid lipofuscinosis 22May 3, 2023
Neuronal ceroid lipofuscinosis 31Feb 12, 2024
Neuronal ceroid lipofuscinosis 52May 4, 2022
Neuronal ceroid lipofuscinosis 74Sep 11, 2023
Neuronal ceroid lipofuscinosis 82May 4, 2022
Neuronopathy, distal hereditary motor, type 2A1May 29, 2020
Neuronopathy, distal hereditary motor, type 7A1May 3, 2023
Neuropathy, hereditary sensory and autonomic, type 1A1Nov 17, 2020
Neutral 1 amino acid transport defect1May 3, 2023
Niemann-Pick disease, type A1Mar 9, 2020
Niemann-Pick disease, type C12Oct 3, 2019
Non-ketotic hyperglycinemia2May 4, 2022
Noonan syndrome 11Oct 3, 2019
Noonan syndrome 22May 3, 2023
Noonan syndrome 81Oct 3, 2019
Noonan syndrome-like disorder with loose anagen hair 11Oct 3, 2019
Norman-Roberts syndrome1May 3, 2023
OPA1-related optic atrophy with or without extraocular features2Mar 13, 2024
Obesity13Mar 9, 2020
Occult macular dystrophy1May 22, 2024
Ocular motility disease1Mar 1, 2024
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1Sep 11, 2023
Orofaciodigital syndrome type 141May 4, 2022
Osteodysplastic primordial dwarfism, type 11Dec 21, 2023
Osteopathia striata with cranial sclerosis1May 3, 2023
PCARE-related retinopathy1May 3, 2023
PEHO syndrome1May 29, 2020
PHGDH deficiency2May 3, 2023
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Dec 21, 2023
PLA2G6-associated neurodegeneration79Jan 27, 2023
PMM2-congenital disorder of glycosylation1Nov 21, 2018
PPARG-related familial partial lipodystrophy1Mar 9, 2020
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation1May 3, 2023
Pancytopenia-developmental delay syndrome1May 3, 2023
Parkinson disease 13, autosomal dominant, susceptibility to1Mar 10, 2020
Pelizaeus-Merzbacher disease1Mar 10, 2020
Pendred syndrome1Mar 10, 2020
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development4Mar 13, 2024
Periventricular heterotopia with microcephaly, autosomal recessive1Mar 10, 2020
Peroxisome biogenesis disorder 6A (Zellweger)1Mar 10, 2020
Peroxisome biogenesis disorder 8A (Zellweger)1Oct 3, 2019
Peroxisome biogenesis disorder due to PEX1 defect1May 3, 2023
Peroxisome biogenesis disorder due to PEX5 defect2Jan 27, 2023
Pettigrew syndrome1May 3, 2023
Phelan-McDermid syndrome2Sep 11, 2023
Piebaldism1Mar 10, 2020
Pitt-Hopkins syndrome4Nov 13, 2023
Polycystic kidney disease, adult type1Oct 3, 2019
Polydactyly1Mar 13, 2024
Polyglucosan body myopathy type 22May 3, 2023
Polymicrogyria1Sep 11, 2023
Pontocerebellar hypoplasia type 101Oct 3, 2019
Pontocerebellar hypoplasia type 1A2Jan 27, 2023
Pontocerebellar hypoplasia type 1B1Oct 3, 2019
Pontocerebellar hypoplasia type 2A1Oct 3, 2019
Pontocerebellar hypoplasia type 2D1Nov 21, 2018
Pontocerebellar hypoplasia type 31Nov 21, 2018
Pontocerebellar hypoplasia type 92Jan 27, 2023
Pontocerebellar hypoplasia, type 111May 29, 2020
Pontocerebellar hypoplasia, type 1C2Oct 3, 2019
Porencephaly 21Jan 27, 2023
Premature ovarian failure2Mar 10, 2020
Primary ciliary dyskinesia 231Mar 13, 2024
Primary erythromelalgia1Mar 10, 2020
Primary hyperoxaluria, type I1Jun 27, 2018
Primrose syndrome1May 22, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41Mar 10, 2020
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1Nov 21, 2018
Progressive muscle weakness2Feb 28, 2019
Progressive pseudorheumatoid dysplasia1Mar 10, 2020
Pseudo-Hurler polydystrophy1Mar 10, 2020
Pseudo-TORCH syndrome 12May 3, 2023
Pseudo-TORCH syndrome 21May 3, 2023
Pseudopseudohypoparathyroidism1Sep 26, 2018
Psoriasis1Mar 10, 2020
Ptosis1Mar 13, 2024
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant1May 4, 2022
Pyruvate dehydrogenase E3-binding protein deficiency1Jan 27, 2023
Pyruvate kinase deficiency of red cells1Mar 10, 2020
Qualitative or quantitative defects of alpha-sarcoglycan1Jan 27, 2023
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)1Jan 27, 2023
Qualitative or quantitative defects of calpain1Jan 27, 2023
Qualitative or quantitative defects of dysferlin2May 3, 2023
Qualitative or quantitative defects of merosin2May 3, 2023
Qualitative or quantitative defects of myotubularin1Jan 27, 2023
Qualitative or quantitative defects of plectin1May 3, 2023
RASopathy1Mar 13, 2024
RPGR-related retinopathy6May 3, 2023
RYR1-related myopathy18Mar 13, 2024
Radial aplasia-thrombocytopenia syndrome2Sep 11, 2023
Radioulnar synostosis with amegakaryocytic thrombocytopenia 22May 17, 2023
Rahman syndrome1Oct 3, 2019
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome11May 3, 2023
Renal agenesis1Sep 11, 2023
Renal cysts and diabetes syndrome10Dec 21, 2023
Renal hypodysplasia/aplasia 32Jan 27, 2023
Renal tubular acidosis with progressive nerve deafness1Mar 10, 2020
Renal-hepatic-pancreatic dysplasia 11May 3, 2023
Renpenning syndrome1May 3, 2023
Retinal dystrophy with or without macular staphyloma2May 3, 2023
Retinitis pigmentosa241May 25, 2022
Retinitis pigmentosa 11Mar 10, 2020
Retinitis pigmentosa 118Sep 11, 2023
Retinitis pigmentosa 123Sep 11, 2023
Retinitis pigmentosa 142May 3, 2023
Retinitis pigmentosa 195May 3, 2023
Retinitis pigmentosa 21Mar 10, 2020
Retinitis pigmentosa 253Sep 11, 2023
Retinitis pigmentosa 262May 4, 2022
Retinitis pigmentosa 34Sep 11, 2023
Retinitis pigmentosa 331Oct 3, 2019
Retinitis pigmentosa 383Sep 11, 2023
Retinitis pigmentosa 392Jul 1, 2017
Retinitis pigmentosa 41Sep 26, 2018
Retinitis pigmentosa 403May 3, 2023
Retinitis pigmentosa 561May 3, 2023
Retinitis pigmentosa 592May 4, 2022
Retinitis pigmentosa 621Sep 11, 2023
Retinitis pigmentosa 691Jun 5, 2023
Retinitis pigmentosa 744May 4, 2022
Retinitis pigmentosa 762Jan 27, 2023
Retinitis pigmentosa 782Oct 3, 2019
Retinitis pigmentosa 792May 29, 2020
Retinitis pigmentosa 801Jan 27, 2023
Retinopathy1Aug 31, 2023
Rett syndrome, congenital variant3Sep 11, 2023
Rh-null, regulator type1Mar 10, 2020
Roifman syndrome2May 3, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations3Sep 11, 2023
SELENON-related myopathy1Nov 9, 2023
SLC39A8-CDG1Sep 26, 2018
Saldino-Mainzer syndrome3Sep 11, 2023
Sandhoff disease1Sep 11, 2023
Sarcotubular myopathy5Oct 3, 2019
Schaaf-Yang syndrome1May 29, 2020
Schimke immuno-osseous dysplasia2Jul 1, 2017
Schizophrenia1Mar 10, 2020
Schwartz-Jampel syndrome2Nov 21, 2018
See cases35Feb 11, 2019
Seizure3Mar 10, 2020
Senior-Loken syndrome 82May 22, 2024
Severe X-linked myotubular myopathy2Sep 11, 2023
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1Nov 17, 2020
Severe early-childhood-onset retinal dystrophy3Mar 10, 2020
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome4Jan 27, 2023
Severe intellectual disability-progressive spastic diplegia syndrome1Nov 9, 2023
Severe myoclonic epilepsy in infancy3Mar 13, 2024
Short stature2Jun 1, 2020
Shwachman-Diamond syndrome 13May 3, 2023
Sjögren-Larsson syndrome3May 4, 2022
Skraban-Deardorff syndrome1Sep 11, 2023
Sotos syndrome3Sep 11, 2023
Spastic ataxia 23Jan 27, 2023
Spastic ataxia 51Jan 27, 2023
Spastic paraplegia, intellectual disability, nystagmus, and obesity2May 3, 2023
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome1May 3, 2023
Spermatogenic Failure2Mar 10, 2020
Sphingolipid activator protein 1 deficiency1Oct 3, 2019
Sphingomyelin/cholesterol lipidosis54Mar 9, 2020
Spinocerebellar ataxia type 211Jan 27, 2023
Spinocerebellar ataxia type 261Jan 27, 2023
Spinocerebellar ataxia type 291Oct 3, 2019
Spinocerebellar ataxia type 41May 22, 2024
Sponastrime dysplasia1May 3, 2023
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures2Jan 27, 2023
Spondyloepiphyseal dysplasia with congenital joint dislocations1Nov 21, 2018
Spondylometaphyseal dysplasia1May 22, 2024
Spongy degeneration of central nervous system2Oct 3, 2019
Stickler syndrome type 21Dec 21, 2023
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1Jan 27, 2023
Syndromic X-linked intellectual disability Claes-Jensen type1Oct 3, 2019
Syndromic X-linked intellectual disability Najm type7Mar 28, 2024
Syndromic X-linked intellectual disability Nascimento type1Sep 11, 2023
Syndromic intellectual disability3May 29, 2020
Syndromic microphthalmia type 51Jan 27, 2023
TCF12-related craniosynostosis1Jan 27, 2023
TPM3-related myopathy1Jan 27, 2023
TRPV4-related bone disorder1Mar 13, 2024
TTN-related myopathy7May 3, 2023
TUBB3-related tubulinopathy3Mar 13, 2024
TWIST1-related craniosynostosis1Mar 13, 2024
Tatton-Brown-Rahman overgrowth syndrome1May 3, 2023
Tay-Sachs disease1Mar 10, 2020
Temtamy syndrome1May 4, 2022
Tetralogy of Fallot1Mar 10, 2020
Townes-Brocks syndrome 11May 29, 2020
Type 2 diabetes mellitus5Mar 10, 2020
Ullrich congenital muscular dystrophy 1A12Dec 21, 2023
Ulnar-mammary syndrome1Dec 21, 2023
Usher syndrome type 1F66Jan 27, 2023
Usher syndrome type 2A4Jan 27, 2023
Usher syndrome type 2C4Mar 10, 2020
Usher syndrome type 3A1May 4, 2022
Usher syndrome, type 41Jan 27, 2023
VATER association1May 29, 2020
Van Maldergem syndrome 23May 3, 2023
Vasculitis due to ADA2 deficiency2May 3, 2023
Ververi-Brady syndrome1Dec 21, 2023
Vici syndrome3May 3, 2023
Visceral myopathy 11Jun 27, 2018
Vitamin D-dependent rickets type II with alopecia2Mar 10, 2020
Walker-Warburg congenital muscular dystrophy2Nov 17, 2020
Warburg micro syndrome 14Sep 11, 2023
Warburg micro syndrome 21Jan 27, 2023
Weiss-kruszka syndrome5Mar 13, 2024
Wieacker-Wolff syndrome4May 3, 2023
Wieacker-Wolff syndrome (spectrum)1Jan 27, 2023
Wieacker-Wolff syndrome, female-restricted1Jan 27, 2023
Wiedemann-Steiner syndrome3May 3, 2023
Wolfram syndrome 12Nov 9, 2023
X-linked Alport syndrome4May 4, 2022
X-linked Emery-Dreifuss muscular dystrophy1Sep 11, 2023
X-linked cerebral adrenoleukodystrophy1May 4, 2022
X-linked cone-rod dystrophy 31Sep 11, 2023
X-linked intellectual disability1Mar 10, 2020
X-linked intellectual disability-cerebellar hypoplasia syndrome1May 3, 2023
X-linked intellectual disability-short stature-overweight syndrome2Mar 10, 2020
X-linked myopathy with postural muscle atrophy1Sep 11, 2023
X-linked recessive nephrolithiasis with renal failure1Oct 3, 2019
X-linked sideroblastic anemia 11May 3, 2023
X-linked sideroblastic anemia with ataxia1May 3, 2023
ZTTK syndrome3May 3, 2023
beta Thalassemia1May 3, 2023
not specified25Mar 9, 2020
skeletal contractures1May 29, 2020