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Diagnostics Services (NGS) (CSIR - Centre For Cellular And Molecular Biology), AIC-CCMB

General information

Diagnostics Services (NGS), AIC-CCMB
CSIR - Centre For Cellular And Molecular Biology
Medical Biotechnology Complex, CCMB Annexe II, Genpact Road, IDA Uppal, Hyderabad – 500039 Telangana State
Hyderabad
India - 500039
https://aic.ccmb.res.in/diagnostics-services/
Organization ID: 507246

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 485

Gene

GeneSubmissionsLast Updated
AAAS1Jul 8, 2024
ABCA121Feb 2, 2023
ABCA41Jul 8, 2024
ABCC83Sep 15, 2020
ABCD11Jan 21, 2021
ABL11Dec 5, 2022
ACOX11May 31, 2022
ACTN21Dec 5, 2022
ADGRG11Oct 17, 2023
ADGRV11Dec 24, 2021
ADPRS1Oct 17, 2023
AFG2B1Oct 17, 2023
AFG3L21Oct 17, 2023
AGTPBP11Mar 17, 2023
ALDH3A22Feb 28, 2023
ALG131Jul 24, 2023
ALOX12B1Jun 24, 2023
ALOXE31May 31, 2022
ALPL1Feb 2, 2023
ANK12Jun 24, 2023
ANK31Dec 24, 2021
ANO31Jul 8, 2024
AP5Z12Dec 24, 2021
ARHGEF101Nov 29, 2019
ARSA1Jul 8, 2024
ARSG1Jul 8, 2024
ARX1May 31, 2022
ASAH12Dec 5, 2022
ASPH1Feb 13, 2023
ASS11Dec 5, 2022
ASXL11May 31, 2022
ATM1Jan 5, 2024
ATP13A22Jun 13, 2023
ATP1A31Dec 5, 2022
ATP6V0A41Dec 5, 2022
ATP6V1A1Feb 13, 2023
ATP7B1Dec 2, 2023
ATP8B12May 31, 2022
ATP8B1-AS12May 31, 2022
AVIL2May 31, 2022
B3GALT61May 31, 2022
BBS91Feb 2, 2023
BCKDHB2Jul 8, 2024
BEST11Apr 16, 2020
C12orf602Apr 17, 2020
C14orf391May 6, 2020
C17orf1071Dec 24, 2021
CA11Nov 27, 2019
CACNA1A2Dec 5, 2022
CACNA1G3Dec 2, 2023
CAD1Mar 16, 2020
CAPN11Dec 5, 2022
CAPN31Dec 24, 2021
CASD11Dec 24, 2021
CASQ11Jan 23, 2024
CATIP-AS21Dec 24, 2021
CDH12Aug 24, 2023
CDK101Dec 5, 2022
CDKL51Jan 5, 2024
CELF21Jun 13, 2023
CENPF1Mar 18, 2020
CEP2901Oct 17, 2023
CFH1Feb 13, 2023
CFTR4Jul 8, 2024
CFTR-AS11Jul 8, 2024
CHD41Jun 9, 2021
CHD71Nov 26, 2019
CHFR1Dec 5, 2022
CHKB1Dec 24, 2021
CHKB-CPT1B1Dec 24, 2021
CHRNA11Dec 5, 2022
CHRNA41Dec 5, 2022
CHRNB21Apr 22, 2020
CHRNE1Dec 24, 2021
CLCN11Oct 17, 2023
CLCN71Dec 5, 2022
CLDN101Nov 27, 2019
CLN62Oct 17, 2023
CNGB11Dec 5, 2022
CNTN61Dec 5, 2022
CNTNAP11Jul 8, 2024
COL11A11Jan 5, 2024
COL18A11Dec 24, 2021
COL27A11Dec 5, 2022
COL6A21May 31, 2022
COL6A31May 31, 2022
COL7A13Aug 24, 2023
CPT21Jan 8, 2020
CR11Feb 14, 2020
CREBBP1Dec 24, 2021
CSF1R1Sep 16, 2020
CTNNA31Oct 17, 2023
CTNS1Nov 28, 2019
CTNS-AS11Nov 28, 2019
CTSK1Feb 13, 2023
CUL71May 31, 2022
CYP27A11Dec 5, 2022
CYP27B11Apr 20, 2023
DBT1Jan 5, 2024
DES1Dec 5, 2022
DGKE1Dec 24, 2021
DHODH1Dec 5, 2022
DHX371Oct 17, 2023
DKC11Dec 2, 2023
DLL41Jun 24, 2023
DMD5Jul 8, 2024
DNAH141Jan 5, 2024
DNAJB61Mar 16, 2020
DNAJC301Jul 8, 2024
DNAJC61Jun 13, 2023
DNM21Nov 27, 2019
DOCK72Jun 9, 2021
DOCK82May 6, 2020
DOK71Feb 17, 2020
DPH22May 27, 2022
DRP21Dec 5, 2022
DSC21Jan 5, 2024
DYSF3Dec 5, 2022
EDNRB2Apr 16, 2020
EDNRB-AS12Apr 16, 2020
EFNB11Jul 24, 2023
EIF2B31May 31, 2022
EPCAM1Dec 5, 2022
EPRS12Dec 30, 2019
ERCC21Dec 24, 2021
ERCC62Feb 28, 2023
ERMARD1Feb 13, 2023
EXT12Dec 24, 2021
EYA11May 31, 2022
F13A11Feb 13, 2023
F72May 31, 2022
FA2H1Dec 15, 2023
FBLN51Jan 21, 2021
FBN11May 31, 2022
FERMT11Dec 24, 2021
FGFR31Dec 5, 2022
FH1May 31, 2022
FHOD32Dec 5, 2022
FIG41Sep 16, 2020
FKRP3Dec 5, 2022
FLCN1Jun 9, 2021
FLNB1May 31, 2022
FLNC1Dec 5, 2022
FLNC-AS11Dec 5, 2022
FOXG11Dec 24, 2021
FPGT-TNNI3K2Dec 5, 2022
FUZ1Dec 24, 2021
GABBR22Dec 5, 2022
GABRA11Dec 24, 2021
GABRB21Dec 5, 2022
GALK11Jun 9, 2021
GANAB1May 31, 2022
GBA11Nov 27, 2019
GBA21Dec 5, 2022
GFM12Dec 5, 2022
GHR1Oct 17, 2023
GJB11Dec 24, 2021
GJC21Jul 8, 2024
GLUD11Dec 5, 2022
GNE5Jan 23, 2024
GORAB1Dec 5, 2022
GPT21Dec 24, 2021
GRIA41Dec 5, 2022
GRM11Dec 24, 2021
GUCA1A1Dec 5, 2022
GUCA1ANB-GUCA1A1Dec 5, 2022
GUCY2C2Apr 17, 2020
GUSB1May 31, 2022
HADHB1Mar 19, 2020
HBA-LCR1Jul 8, 2024
HCFC11Dec 5, 2022
HGF1Dec 5, 2022
HGSNAT1Dec 5, 2022
HMMR1Dec 5, 2022
HNF1B1Jan 23, 2024
HOXD131Apr 22, 2020
HPDL1Dec 5, 2022
HPS12Nov 29, 2019
HPS41Feb 2, 2023
HSD17B42Dec 24, 2021
HTRA11Apr 16, 2020
HYDIN2Dec 27, 2022
IFIH11Dec 5, 2022
IGF2R2Jun 9, 2021
IHH1May 31, 2022
IQSEC21Jul 8, 2024
IRF2BPL1Jul 8, 2024
IRF61Jan 23, 2024
ITGB41Jun 9, 2021
ITPR11Dec 5, 2022
JAG11Mar 31, 2020
KARS12Jul 28, 2023
KCNJ11Nov 13, 2019
KCNJ101Jul 24, 2023
KCNJ112Jul 8, 2024
KCNN23Jul 8, 2024
KCNQ21May 31, 2022
KDM5C1Dec 5, 2022
KIF1B1Jun 13, 2023
KIF1C1Oct 17, 2023
KMT2C1Nov 27, 2019
KRT21Jul 8, 2024
LAMA11Mar 17, 2023
LAMA22Jul 8, 2024
LAMA31Dec 5, 2022
LAMA51Jul 8, 2024
LDB32Dec 5, 2022
LIPT11Feb 13, 2023
LMAN12Dec 5, 2022
LMNA1Apr 22, 2020
LNPK1Apr 17, 2020
LOC1027240582Jun 13, 2023
LOC1066279811Nov 27, 2019
LOC1076488511Aug 24, 2023
LOC1096106311May 31, 2022
LOC1116744721Dec 5, 2022
LOC1228890111May 31, 2022
LOC1268057041Jul 8, 2024
LOC1268057261May 27, 2022
LOC1268618972Feb 13, 2023
LOC1268624021Nov 22, 2019
LOC1268624851May 31, 2022
LOC1299315971Apr 22, 2020
LOC1299976121Jun 9, 2021
LOC1300041091Dec 5, 2022
LOC1300553871Dec 24, 2021
LOC1300619001Nov 29, 2019
LPAR61Dec 5, 2022
LPL1Jul 8, 2024
LRAT1May 3, 2020
LRBA3Dec 2, 2023
LRP51Jan 8, 2020
LTBP41Dec 5, 2022
LYST1Jun 9, 2021
MADD1Dec 5, 2022
MAGEL21Jul 8, 2024
MAP3K11Dec 24, 2021
MAP3K71Jun 9, 2021
MATN31Dec 24, 2021
MC1R1Mar 8, 2021
MC2R1May 31, 2022
MCM81Dec 27, 2022
MECR1Jul 8, 2024
MED131Sep 15, 2020
MEGF101Jun 9, 2021
MERTK1Oct 17, 2023
MFN21May 31, 2022
MFSD81Dec 5, 2022
MHRT2Feb 13, 2023
MIP1Mar 31, 2020
MITD11Feb 13, 2023
MKKS1May 31, 2022
MLC11May 31, 2022
MLH11Dec 24, 2021
MOCOS1Apr 18, 2020
MOCS11Jun 9, 2021
MORC21Dec 5, 2022
MPZ1Dec 15, 2023
MT-ATP61Jul 8, 2024
MT-CYB1Dec 2, 2023
MT-ND52Jul 8, 2024
MT-ND61Jul 8, 2024
MYBPC33Jun 13, 2023
MYH21Dec 5, 2022
MYH61Dec 5, 2022
MYH73Feb 13, 2023
MYH7B2Jul 8, 2024
MYHAS1Dec 5, 2022
MYMK1Jul 8, 2024
MYO15A2Dec 5, 2022
MYOC1Jun 9, 2021
NALCN1Jul 8, 2024
NCR12Apr 9, 2020
NDNF1Dec 5, 2022
NDUFB31Jan 8, 2020
NDUFS11Jun 24, 2023
NEB1Dec 5, 2022
NF11Jan 23, 2024
NF21Dec 24, 2021
NHLRC11Dec 24, 2021
NKX2-11Apr 20, 2023
NLRP72Apr 9, 2020
NOBOX1Jul 8, 2024
NOTCH21Dec 24, 2021
NOTCH31Jun 9, 2021
NPRL31Jul 8, 2024
NR5A11May 31, 2022
NRL1Dec 24, 2021
NUP1551Apr 22, 2020
OCA22Jul 8, 2024
OFD11Jan 8, 2020
OPA12Jul 8, 2024
OTOF1Sep 15, 2020
P3H11May 31, 2022
PCDHG@1Dec 5, 2022
PCDHGA11Dec 5, 2022
PCDHGA101Dec 5, 2022
PCDHGA111Dec 5, 2022
PCDHGA121Dec 5, 2022
PCDHGA21Dec 5, 2022
PCDHGA31Dec 5, 2022
PCDHGA41Dec 5, 2022
PCDHGA51Dec 5, 2022
PCDHGA61Dec 5, 2022
PCDHGA71Dec 5, 2022
PCDHGA81Dec 5, 2022
PCDHGA91Dec 5, 2022
PCDHGB11Dec 5, 2022
PCDHGB21Dec 5, 2022
PCDHGB31Dec 5, 2022
PCDHGB41Dec 5, 2022
PCDHGB51Dec 5, 2022
PCDHGB61Dec 5, 2022
PCDHGB71Dec 5, 2022
PCDHGC31Dec 5, 2022
PCDHGC41Dec 5, 2022
PCYT22Dec 24, 2021
PDHA12Jul 8, 2024
PIGO1Nov 21, 2019
PIK3CA1Apr 16, 2020
PKD13Feb 13, 2023
PKHD13Jan 5, 2024
PKLR2Aug 24, 2023
PLAA2Feb 28, 2023
PLEC2Jun 24, 2023
PLEKHG51May 31, 2022
PNKD1Dec 24, 2021
PNPLA11May 31, 2022
POLA11Jun 9, 2021
POLG1Dec 5, 2022
POLGARF1Dec 5, 2022
POMGNT11Dec 5, 2022
POMK1May 31, 2022
POU3F31Jul 24, 2023
PRKAR1B1Dec 5, 2022
PROC1Jan 8, 2020
PROM11Jul 8, 2024
PSEN21Dec 5, 2022
RAB27A1Jul 24, 2023
RARS11Sep 15, 2020
RB11Dec 5, 2022
RIF11Dec 5, 2022
RIT11Feb 28, 2023
RMRP1Dec 5, 2022
RPGR2Jun 13, 2023
RSPH31Dec 15, 2023
RUBCN1Jun 13, 2023
RYR11Oct 17, 2023
RYR23Dec 5, 2022
SAMD93Dec 15, 2023
SASS61Dec 5, 2022
SBF21Jun 13, 2023
SCN1A6Oct 17, 2023
SCN1B1Dec 24, 2021
SCN2A1Jun 9, 2021
SCN3A1Dec 5, 2022
SCN5A1Jan 22, 2021
SCN8A1Apr 22, 2020
SEPSECS1Dec 24, 2021
SERPINC11Nov 26, 2019
SERPING11Nov 27, 2019
SETX2Dec 24, 2021
SFTA31Apr 20, 2023
SGCE1Dec 24, 2021
SGCG2May 31, 2022
SGPL11Jun 9, 2021
SGSH1Nov 29, 2019
SH3TC22Mar 19, 2020
SHQ11Jan 23, 2024
SIX61May 6, 2020
SLC16A22Dec 15, 2023
SLC17A51May 31, 2022
SLC25A151Jun 13, 2023
SLC25A461Dec 5, 2022
SLC26A111Nov 29, 2019
SLC4A111Jul 8, 2024
SLC7A71Jun 13, 2023
SLC9A91May 31, 2022
SNHG142Dec 2, 2023
SNHG311Feb 2, 2023
SNIP11Jul 8, 2024
SORCS11May 31, 2022
SPATA71Dec 5, 2022
SPEN1Jul 24, 2023
SPTAN11Dec 2, 2023
SPTB1Dec 4, 2019
SPTBN22Dec 5, 2022
SQSTM11Aug 24, 2023
SRD5A22Dec 5, 2022
STAG31Dec 5, 2022
STK111Feb 28, 2023
STK362May 31, 2022
STXBP11Jul 24, 2023
SUPT16H1May 31, 2022
SYNE21Jun 24, 2023
SYT21Jun 13, 2023
SZT22May 31, 2022
SZT2-AS11May 31, 2022
TANC21Dec 5, 2022
TAP21Aug 24, 2023
TBCEL-TECTA1Dec 24, 2021
TBX181Mar 16, 2021
TBX31Dec 5, 2022
TCIRG12Sep 16, 2020
TECTA1Dec 24, 2021
TGM11Dec 27, 2022
TMEM2601Jul 8, 2024
TMEM63A1Dec 5, 2022
TMEM671May 31, 2022
TNNI3K2Dec 5, 2022
TNNT11Dec 2, 2023
TNNT21Dec 5, 2022
TONSL1Oct 17, 2023
TP531Jan 23, 2024
TP631Dec 5, 2022
TPM31Jul 8, 2024
TRAPPC21Jan 8, 2020
TRMT10C1Dec 5, 2022
TRPC61May 31, 2022
TRPM63Dec 15, 2023
TRRAP1Dec 5, 2022
TSC11Jan 21, 2021
TSC22Jul 8, 2024
TSPAN11Dec 5, 2022
TSPOAP11Jun 9, 2021
TTC191Jan 5, 2024
TTN4Jun 13, 2023
TTN-AS14Jun 13, 2023
TUBA1A1Oct 17, 2023
TUBB4A2Jul 8, 2024
TUBGCP61Jun 13, 2023
TWNK1Nov 13, 2019
TYK22Dec 30, 2019
TYMP1Dec 5, 2022
UBE3A2Dec 2, 2023
UMOD1Dec 5, 2022
UNC13D1Apr 18, 2020
UROS1Nov 29, 2019
VCL1Dec 5, 2022
VPS13A1Mar 16, 2020
WARS21Dec 27, 2022
WASF11May 31, 2022
WDR451Dec 24, 2021
WDR621Oct 17, 2023
XRCC11Jul 24, 2023
YY11Jan 5, 2024
ZBTB181Dec 24, 2021
ZYG11B1May 31, 2022

Condition

NameSubmissionsLast Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2Dec 5, 2022
3M syndrome 11May 31, 2022
46,XY sex reversal 111Oct 17, 2023
46,XY sex reversal 31May 31, 2022
46,XY sex reversal 61Dec 24, 2021
Abnormal finger morphology1Apr 22, 2020
Abnormality of the skeletal system1Sep 16, 2020
Acrocapitofemoral dysplasia1May 31, 2022
Acyl-CoA oxidase deficiency1May 31, 2022
Adams-Oliver syndrome 61Jun 24, 2023
Adrenocortical carcinoma, hereditary1Jan 23, 2024
Adrenoleukodystrophy1Jan 21, 2021
Adult hypophosphatasia1Feb 2, 2023
Aganglionic megacolon3Apr 16, 2020
Aicardi-Goutieres syndrome 71Dec 5, 2022
Al Kaissi syndrome1Dec 5, 2022
Al-Gazali syndrome1May 31, 2022
Alagille syndrome due to a JAG1 point mutation1Mar 31, 2020
Alagille syndrome due to a NOTCH2 point mutation1Dec 24, 2021
Allan-Herndon-Dudley syndrome2Dec 15, 2023
Alzheimer disease 61May 31, 2022
Anauxetic dysplasia 11Dec 5, 2022
Angelman syndrome2Dec 2, 2023
Anxiety1Feb 14, 2020
Arrhythmogenic right ventricular dysplasia 111Jan 5, 2024
Arrhythmogenic right ventricular dysplasia 131Oct 17, 2023
Arrhythmogenic right ventricular dysplasia 22May 31, 2022
Arthrogryposis multiplex congenita 61Dec 5, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Mar 17, 2023
Ataxia-telangiectasia syndrome1Jan 5, 2024
Atelosteogenesis type I1May 31, 2022
Atelosteogenesis type III1May 31, 2022
Atrial conduction disease2Dec 5, 2022
Atrial fibrillation, familial, 131Dec 24, 2021
Atrial fibrillation, familial, 151Apr 22, 2020
Autism spectrum disorder1Dec 5, 2022
Autism, susceptibility to, 161May 31, 2022
Autistic behavior1Sep 15, 2020
Autosomal dominant centronuclear myopathy1Nov 27, 2019
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1Mar 16, 2020
Autosomal dominant nocturnal frontal lobe epilepsy 11Dec 5, 2022
Autosomal dominant nonsyndromic hearing loss 121Dec 24, 2021
Autosomal dominant optic atrophy classic form2Jul 8, 2024
Autosomal dominant osteopetrosis 21Dec 5, 2022
Autosomal recessive congenital ichthyosis 11Dec 27, 2022
Autosomal recessive congenital ichthyosis 101May 31, 2022
Autosomal recessive congenital ichthyosis 21Jun 24, 2023
Autosomal recessive congenital ichthyosis 31May 31, 2022
Autosomal recessive congenital ichthyosis 4B1Feb 2, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2B3Dec 5, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2C2May 31, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I3Dec 5, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2O1Dec 5, 2022
Autosomal recessive nonsyndromic hearing loss 32Dec 5, 2022
Autosomal recessive nonsyndromic hearing loss 391Dec 5, 2022
Autosomal recessive nonsyndromic hearing loss 892Jul 28, 2023
Autosomal recessive nonsyndromic hearing loss 91Sep 15, 2020
Autosomal recessive osteopetrosis 12Sep 16, 2020
Autosomal recessive osteopetrosis 41Dec 5, 2022
Autosomal recessive spastic paraplegia type 761Dec 5, 2022
Autosomal recessive spinocerebellar ataxia 142Dec 5, 2022
Autosomal recessive spinocerebellar ataxia 151Jun 13, 2023
Bardet-Biedl syndrome 61May 31, 2022
Bardet-Biedl syndrome 91Feb 2, 2023
Bartter disease type 21Nov 13, 2019
Basal cell carcinoma, susceptibility to, 71Jan 23, 2024
Becker muscular dystrophy3Jul 8, 2024
Benign recurrent intrahepatic cholestasis type 11May 31, 2022
Bent bone dysplasia syndrome 21Jul 8, 2024
Bethlem myopathy 1A2May 31, 2022
Bilateral frontoparietal polymicrogyria1Oct 17, 2023
Birt-Hogg-Dube syndrome1Jun 9, 2021
Blepharocheilodontic syndrome 12Aug 24, 2023
Bohring-Opitz syndrome1May 31, 2022
Bone marrow failure syndrome 51Jan 23, 2024
Boomerang dysplasia1May 31, 2022
Brachycephaly1Jan 8, 2020
Brain-lung-thyroid syndrome1Apr 20, 2023
Branchiootic syndrome 11May 31, 2022
Brugada syndrome 11Jan 22, 2021
Brugada syndrome 51Dec 24, 2021
CARASIL syndrome1Apr 16, 2020
CHARGE syndrome1Nov 26, 2019
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1Dec 5, 2022
Cardiospondylocarpofacial syndrome1Jun 9, 2021
Carey-Fineman-Ziter syndrome 11Jul 8, 2024
Catecholaminergic polymorphic ventricular tachycardia 12May 31, 2022
Central core myopathy1Oct 17, 2023
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Dec 5, 2022
Cerebellar atrophy2Jun 9, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Jun 9, 2021
Cerebrooculofacioskeletal syndrome 12Feb 28, 2023
Ceroid lipofuscinosis, neuronal, 6A2Oct 17, 2023
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)1Oct 17, 2023
Charcot-Marie-Tooth disease X-linked dominant 11Dec 24, 2021
Charcot-Marie-Tooth disease axonal type 2Z1Dec 5, 2022
Charcot-Marie-Tooth disease recessive intermediate C1May 31, 2022
Charcot-Marie-Tooth disease type 2A11Jun 13, 2023
Charcot-Marie-Tooth disease type 2A21May 31, 2022
Charcot-Marie-Tooth disease type 4B21Jun 13, 2023
Charcot-Marie-Tooth disease type X1Dec 5, 2022
Cholestanol storage disease1Dec 5, 2022
Chorea-acanthocytosis1Mar 16, 2020
Choroid plexus papilloma1Jan 23, 2024
Chédiak-Higashi syndrome1Jun 9, 2021
Ciliary dyskinesia, primary, 462May 31, 2022
Citrullinemia type I1Dec 5, 2022
Cockayne syndrome type 22Feb 28, 2023
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1May 6, 2020
Colorectal cancer1Jan 23, 2024
Colorectal cancer, hereditary nonpolyposis, type 21Dec 24, 2021
Combined immunodeficiency due to DOCK8 deficiency2May 6, 2020
Combined immunodeficiency due to LRBA deficiency3Dec 2, 2023
Combined oxidative phosphorylation defect type 301Dec 5, 2022
Cone dystrophy 31Dec 5, 2022
Cone-rod dystrophy 121Jul 8, 2024
Cone-rod dystrophy 31Jul 8, 2024
Congenital anomaly of face1Mar 16, 2020
Congenital bilateral aplasia of vas deferens from CFTR mutation1May 31, 2022
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Jul 8, 2024
Congenital diarrhea 5 with tufting enteropathy1Dec 5, 2022
Congenital diarrhea 62Apr 17, 2020
Congenital factor VII deficiency2May 31, 2022
Congenital heart defects and skeletal malformations syndrome1Dec 5, 2022
Congenital hereditary endothelial dystrophy of cornea1Jul 8, 2024
Congenital myasthenic syndrome 101Feb 17, 2020
Congenital myasthenic syndrome 1A1Dec 5, 2022
Congenital myasthenic syndrome 4A1Dec 24, 2021
Congenital myopathy 4A, autosomal dominant1Jul 8, 2024
Congenital myotonia, autosomal dominant form1Oct 17, 2023
Congenital nystagmus1Mar 18, 2020
Craniofacial microsomia 11May 31, 2022
Craniofrontonasal syndrome1Jul 24, 2023
Cutaneous porphyria1Nov 29, 2019
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1Dec 5, 2022
Cutis laxa, autosomal recessive, type 1A1Jan 21, 2021
Cystic fibrosis4Jul 8, 2024
DE SANCTIS-CACCHIONE SYNDROME2Feb 28, 2023
Death in childhood1Jan 8, 2020
Decreased circulating vitamin D concentration1Jan 8, 2020
Deeah syndrome1Dec 5, 2022
Dejerine-Sottas disease1Dec 15, 2023
Developmental and epileptic encephalopathy 6B2Oct 17, 2023
Developmental and epileptic encephalopathy 971Jun 13, 2023
Developmental and epileptic encephalopathy, 11May 31, 2022
Developmental and epileptic encephalopathy, 111Jun 9, 2021
Developmental and epileptic encephalopathy, 182May 31, 2022
Developmental and epileptic encephalopathy, 191Dec 24, 2021
Developmental and epileptic encephalopathy, 21Jan 5, 2024
Developmental and epileptic encephalopathy, 232Jun 9, 2021
Developmental and epileptic encephalopathy, 361Jul 24, 2023
Developmental and epileptic encephalopathy, 41Jul 24, 2023
Developmental and epileptic encephalopathy, 421Jan 21, 2021
Developmental and epileptic encephalopathy, 592Dec 5, 2022
Developmental and epileptic encephalopathy, 621Dec 5, 2022
Developmental and epileptic encephalopathy, 71May 31, 2022
Developmental cataract2Mar 31, 2020
Developmental delay with or without dysmorphic facies and autism1Dec 5, 2022
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Dec 5, 2022
Developmental regression3Apr 22, 2020
Diaphyseal dysplasia1Jan 8, 2020
Diaphyseal sclerosis1Jan 8, 2020
Diarrhea1Mar 18, 2020
Dilated cardiomyopathy 1AA1Dec 5, 2022
Dilated cardiomyopathy 1C1Dec 5, 2022
Dilated cardiomyopathy 1D1Dec 5, 2022
Dilated cardiomyopathy 1EE1Dec 5, 2022
Dilated cardiomyopathy 1G3Dec 5, 2022
Dilated cardiomyopathy 1I1Dec 5, 2022
Dilated cardiomyopathy 1S2Dec 5, 2022
Dilated cardiomyopathy 1V1Dec 5, 2022
Dilated cardiomyopathy 1W1Dec 5, 2022
Dilated cardiomyopathy with left ventricular noncompaction2Jul 8, 2024
Distal myopathy with anterior tibial onset3Dec 5, 2022
Duchenne muscular dystrophy5Jul 8, 2024
Dyskeratosis congenita, X-linked1Dec 2, 2023
Dystonia 241Jul 8, 2024
Dystonia 34, myoclonic2Jul 8, 2024
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1Jul 8, 2024
EAST syndrome1Jul 24, 2023
Ehlers-Danlos syndrome, spondylodysplastic type, 21May 31, 2022
Elevated circulating alkaline phosphatase concentration1Jan 8, 2020
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Jun 24, 2023
Epidermolysis bullosa pruriginosa3Aug 24, 2023
Epidermolysis bullosa simplex with nail dystrophy2Jun 24, 2023
Epidermolysis bullosa, junctional 2A, intermediate1Dec 5, 2022
Epidermolysis bullosa, junctional 2B, severe1Dec 5, 2022
Epilepsy1Mar 16, 2020
Epilepsy, familial focal, with variable foci 31Jul 8, 2024
Epilepsy, familial focal, with variable foci 41Dec 5, 2022
Epileptic encephalopathy, infantile or early childhood, 21Dec 5, 2022
Epileptic encephalopathy, infantile or early childhood, 31Feb 13, 2023
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1Feb 13, 2023
Factor H deficiency1Feb 13, 2023
Factor V and factor VIII, combined deficiency of, type 12Dec 5, 2022
Factor V deficiency1Nov 29, 2019
Factor XIII, A subunit, deficiency of1Feb 13, 2023
Failure to thrive1Sep 16, 2020
Familial cancer of breast2Dec 5, 2022
Familial hemophagocytic lymphohistiocytosis 31Apr 18, 2020
Familial juvenile hyperuricemic nephropathy type 11Dec 5, 2022
Farber lipogranulomatosis2Dec 5, 2022
Febrile seizure (within the age range of 3 months to 6 years)1Mar 18, 2020
Febrile seizures, familial, 41Dec 24, 2021
Focal clonic seizure2Apr 22, 2020
Focal segmental glomerulosclerosis 21May 31, 2022
Frontometaphyseal dysplasia 21Jun 9, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31Aug 24, 2023
GNE myopathy5Jan 23, 2024
Gabriele de Vries syndrome1Jan 5, 2024
Gaucher disease perinatal lethal1Nov 27, 2019
Gaucher disease type I1Nov 27, 2019
Gaucher disease type II1Nov 27, 2019
Gaucher disease type III1Nov 27, 2019
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1Nov 27, 2019
Generalized epilepsy with febrile seizures plus, type 23Sep 15, 2020
Geroderma osteodysplastica1Dec 5, 2022
Glaucoma 1, open angle, A1Jun 9, 2021
Glioma susceptibility 11Jan 23, 2024
Global developmental delay3Nov 27, 2019
Glucocorticoid deficiency 11May 31, 2022
Glucocorticoid deficiency with achalasia1Jul 8, 2024
Glutamate pyruvate transaminase 2 deficiency1Dec 24, 2021
Griscelli syndrome type 21Jul 24, 2023
Hajdu-Cheney syndrome1Dec 24, 2021
Hemolytic uremic syndrome, atypical, susceptibility to, 11Feb 13, 2023
Hepatocellular carcinoma2Jun 9, 2021
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11Dec 5, 2022
Hereditary angioedema type 11Nov 27, 2019
Hereditary antithrombin deficiency1Nov 26, 2019
Hereditary diffuse gastric adenocarcinoma1Dec 24, 2021
Hereditary diffuse leukoencephalopathy with spheroids1Sep 16, 2020
Hereditary factor VIII deficiency disease1Nov 29, 2019
Hereditary leiomyomatosis and renal cell cancer1May 31, 2022
Hereditary motor and sensory neuropathy2Mar 19, 2020
Hereditary spastic paraplegia 351Dec 15, 2023
Hereditary spastic paraplegia 441Jul 8, 2024
Hereditary spastic paraplegia 461Dec 5, 2022
Hereditary spastic paraplegia 482Dec 24, 2021
Hereditary spherocytosis type 12Jun 24, 2023
Hereditary spherocytosis type 21Dec 4, 2019
Hermansky-Pudlak syndrome 12Nov 29, 2019
Hermansky-Pudlak syndrome 41Feb 2, 2023
Hydatidiform mole, recurrent, 12Apr 9, 2020
Hyperinsulinemic hypoglycemia, familial, 13Sep 15, 2020
Hyperinsulinemic hypoglycemia, familial, 21Nov 13, 2019
Hyperinsulinism-hyperammonemia syndrome1Dec 5, 2022
Hyperlipoproteinemia, type I1Jul 8, 2024
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1Jun 13, 2023
Hyperphosphatasia with intellectual disability syndrome 21Nov 21, 2019
Hypertrophic cardiomyopathy2Jul 8, 2024
Hypertrophic cardiomyopathy 11May 31, 2022
Hypertrophic cardiomyopathy 42Jun 13, 2023
Hypertrophic cardiomyopathy 93Jun 13, 2023
Hypogonadotropic hypogonadism 25 with anosmia1Dec 5, 2022
Hypokalemia1Nov 27, 2019
Hypomagnesemia1Nov 27, 2019
Hypomyelinating leukodystrophy 21Jul 8, 2024
Hypomyelinating leukodystrophy 62Jul 8, 2024
Hypomyelinating leukodystrophy 91Sep 15, 2020
Hypoplastic acetabulae1Jan 8, 2020
Hypothyroidism1Feb 14, 2020
Hypotrichosis 81Dec 5, 2022
Ichthyosis bullosa of Siemens1Jul 8, 2024
Immunodeficiency2Dec 30, 2019
Immunoglobulin-mediated membranoproliferative glomerulonephritis1Dec 24, 2021
Infantile onset spinocerebellar ataxia1Nov 13, 2019
Intellectual developmental disorder with autistic features and language delay, with or without seizures1Dec 5, 2022
Intellectual disability3Jun 9, 2021
Intellectual disability, X-linked 11Jul 8, 2024
Intellectual disability, autosomal dominant 221Dec 24, 2021
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Dec 24, 2021
Intestinal hypomagnesemia 13Dec 15, 2023
Intrahepatic cholestasis with episodic jaundice1Nov 29, 2019
Joubert syndrome 51Oct 17, 2023
Junctional epidermolysis bullosa with pyloric atresia1Jun 9, 2021
Junctional epidermolysis bullosa, non-Herlitz type1Jun 9, 2021
Juvenile nephropathic cystinosis1Nov 28, 2019
Juvenile onset Parkinson disease 19A1Jun 13, 2023
Juvenile-onset progressive generalized dystonia1Jun 9, 2021
Kidney damage1Jan 8, 2020
Kindler syndrome1Dec 24, 2021
Kleefstra syndrome 21Nov 27, 2019
Knobloch syndrome1Dec 24, 2021
Kufor-Rakeb syndrome2Jun 13, 2023
Lafora disease1Dec 24, 2021
Laron-type isolated somatotropin defect1Oct 17, 2023
Larsen syndrome1May 31, 2022
Laryngo-onycho-cutaneous syndrome1Dec 5, 2022
Leber congenital amaurosis 31Dec 5, 2022
Leber optic atrophy3Jul 8, 2024
Leber-like hereditary optic neuropathy, autosomal recessive 11Jul 8, 2024
Left ventricular noncompaction 102Dec 5, 2022
Lethal congenital contracture syndrome 71Jul 8, 2024
Lethal multiple pterygium syndrome1Dec 5, 2022
Leukodystrophy1Nov 22, 2019
Leukodystrophy, hypomyelinating, 152Dec 30, 2019
Leukodystrophy, hypomyelinating, 19, transient infantile1Dec 5, 2022
Leukoencephalopathy, progressive, infantile-onset, with or without deafness1Jul 28, 2023
Li-Fraumeni syndrome 11Jan 23, 2024
Lipoyl transferase 1 deficiency1Feb 13, 2023
Lissencephaly due to TUBA1A mutation1Oct 17, 2023
Lower limb muscle weakness1Nov 27, 2019
Lysinuric protein intolerance1Jun 13, 2023
MEGF10-related myopathy1Jun 9, 2021
MHC class I deficiency1Aug 24, 2023
MIRAGE syndrome3Dec 15, 2023
Macrocephaly1Nov 27, 2019
Macular degeneration, X-linked atrophic1Dec 5, 2022
Malignant tumor of prostate1Dec 24, 2021
Maple syrup urine disease1Jan 5, 2024
Maple syrup urine disease type 1B2Jul 8, 2024
Marbach-Schaaf neurodevelopmental syndrome1Dec 5, 2022
Marfan syndrome1May 31, 2022
McKusick-Kaufman syndrome1May 31, 2022
Meckel syndrome, type 31May 31, 2022
Meconium ileus2Apr 17, 2020
Megaconial type congenital muscular dystrophy1Dec 24, 2021
Megalencephalic leukoencephalopathy with subcortical cysts 11May 31, 2022
Menke-Hennekam syndrome 11Dec 24, 2021
Merosin deficient congenital muscular dystrophy2Jul 8, 2024
Metabolic acidosis2Mar 19, 2020
Metachromatic leukodystrophy1Jul 8, 2024
Metaphyseal chondrodysplasia, McKusick type1Dec 5, 2022
Metaphyseal dysplasia without hypotrichosis1Dec 5, 2022
Methylmalonic acidemia with homocystinuria, type cblX1Dec 5, 2022
Microcephaly 14, primary, autosomal recessive1Dec 5, 2022
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1Oct 17, 2023
Microcephaly and chorioretinopathy 11Jun 13, 2023
Microcornea1Mar 31, 2020
Micropenis1Sep 16, 2020
Microphthalmia1Mar 31, 2020
Miller syndrome1Dec 5, 2022
Mitochondrial DNA depletion syndrome 11Dec 5, 2022
Mitochondrial DNA depletion syndrome 4b1Dec 5, 2022
Mitochondrial complex 1 deficiency, nuclear type 51Jun 24, 2023
Mitochondrial complex III deficiency nuclear type 21Jan 5, 2024
Mitochondrial disease2Jan 5, 2024
Miyoshi muscular dystrophy 13Dec 5, 2022
Motor delay, mild1Mar 18, 2020
Mucopolysaccharidosis type 71May 31, 2022
Mucopolysaccharidosis, MPS-III-A1Nov 29, 2019
Mucopolysaccharidosis, MPS-III-C1Dec 5, 2022
Muir-Torré syndrome1Dec 24, 2021
Multiple congenital exostosis2Dec 24, 2021
Multiple epiphyseal dysplasia type 51Dec 24, 2021
Muscular dystrophy, limb-girdle, autosomal dominant 41Dec 24, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31Dec 5, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121May 31, 2022
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31Dec 5, 2022
Myasthenic syndrome, congenital, 1B, fast-channel1Dec 5, 2022
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive1Jun 13, 2023
Myoclonic dystonia 111Dec 24, 2021
Myopathy2Jan 8, 2020
Myopathy due to calsequestrin and SERCA1 protein overload1Jan 23, 2024
Myopathy, myofibrillar, 9, with early respiratory failure1Jun 9, 2021
Myopathy, proximal, and ophthalmoplegia1Dec 5, 2022
Myosin storage myopathy1Feb 13, 2023
Nemaline myopathy 21Dec 5, 2022
Nemaline myopathy 51Dec 2, 2023
Nemaline myopathy 5B, autosomal recessive, childhood-onset1Dec 2, 2023
Nephropathic cystinosis1Nov 28, 2019
Nephrotic syndrome 141Jun 9, 2021
Nephrotic syndrome, type 212May 31, 2022
Neural tube defect1Dec 24, 2021
Neurodegeneration with brain iron accumulation 51Dec 24, 2021
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1Oct 17, 2023
Neurodegeneration, childhood-onset, with cerebellar atrophy1Mar 17, 2023
Neurodevelopmental disorder1Jan 5, 2024
Neurodevelopmental disorder with absent language and variable seizures1May 31, 2022
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum1May 31, 2022
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia1Dec 5, 2022
Neurodevelopmental disorder with dystonia and seizures1Jan 23, 2024
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum1Apr 17, 2020
Neurodevelopmental disorder with hearing loss and spasticity1Oct 17, 2023
Neurodevelopmental disorder with or without seizures and gait abnormalities1Dec 5, 2022
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities1Apr 20, 2023
Neurodevelopmental disorder with poor growth and skeletal anomalies1Dec 5, 2022
Neurodevelopmental disorder with poor language and loss of hand skills1May 31, 2022
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies2Feb 28, 2023
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1Dec 5, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Jul 8, 2024
Neurofibromatosis, familial spinal1Jan 23, 2024
Neurofibromatosis, type 21Dec 24, 2021
Neuronal ceroid lipofuscinosis 71Dec 5, 2022
Neuronopathy, distal hereditary motor, autosomal dominant 111Dec 2, 2023
Neuronopathy, distal hereditary motor, autosomal recessive 41May 31, 2022
Neuropathy, congenital hypomyelinating, 21Dec 15, 2023
Neuropathy, congenital hypomyelinating, 31Jul 8, 2024
Neuropathy, hereditary motor and sensory, type 6A1May 31, 2022
Neuropathy, hereditary motor and sensory, type 6B1Dec 5, 2022
Noonan syndrome 81Feb 28, 2023
Nystagmus1Mar 31, 2020
Ocular cystinosis1Nov 28, 2019
Oculocutaneous albinism1Mar 18, 2020
Optic atrophy 121Oct 17, 2023
Optic atrophy 161Jul 8, 2024
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2Jul 8, 2024
Osteogenesis imperfecta type 81May 31, 2022
Osteopenia1Jan 8, 2020
Parkinsonism-dystonia 3, childhood-onset1Dec 27, 2022
Paroxysmal nonkinesigenic dyskinesia 11Dec 24, 2021
Penile hypospadias1Sep 16, 2020
Periventricular nodular heterotopia 61Feb 13, 2023
Perrault syndrome 12Dec 24, 2021
Perrault syndrome 51Nov 13, 2019
Peutz-Jeghers syndrome1Feb 28, 2023
Polyarticular arthritis1Feb 14, 2020
Polycystic kidney disease1Apr 16, 2020
Polycystic kidney disease 3 with or without polycystic liver disease1May 31, 2022
Polycystic kidney disease 43Jan 5, 2024
Polycystic kidney disease, adult type3Feb 13, 2023
Pontocerebellar hypoplasia type 2D1Dec 24, 2021
Premature ovarian failure 101Dec 27, 2022
Premature ovarian failure 51Jul 8, 2024
Premature ovarian failure 81Dec 5, 2022
Pretibial dystrophic epidermolysis bullosa3Aug 24, 2023
Primary ciliary dyskinesia 321Dec 15, 2023
Primary ciliary dyskinesia 52Dec 27, 2022
Primary dilated cardiomyopathy5Dec 5, 2022
Primary hyperoxaluria1Apr 18, 2020
Progeroid and marfanoid aspect-lipodystrophy syndrome1May 31, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11Dec 5, 2022
Progressive familial intrahepatic cholestasis type 12May 31, 2022
Progressive sclerosing poliodystrophy1Dec 5, 2022
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1Jul 8, 2024
Pyknodysostosis1Feb 13, 2023
Pyruvate dehydrogenase E1-alpha deficiency2Jul 8, 2024
Pyruvate kinase deficiency of red cells2Aug 24, 2023
Radio-Tartaglia syndrome1Jul 24, 2023
Recessive dystrophic epidermolysis bullosa3Aug 24, 2023
Recurrent skin infections2Dec 30, 2019
Relative macrocephaly2Apr 22, 2020
Renal cysts and diabetes syndrome1Jan 23, 2024
Renal tubular acidosis2Mar 19, 2020
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss1Dec 5, 2022
Respiratory tract infection1Mar 18, 2020
Retinal macular dystrophy type 21Jul 8, 2024
Retinitis pigmentosa 191Jul 8, 2024
Retinitis pigmentosa 271Dec 24, 2021
Retinitis pigmentosa 32Jun 13, 2023
Retinitis pigmentosa 381Oct 17, 2023
Retinitis pigmentosa 451Dec 5, 2022
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1Dec 5, 2022
Rett syndrome, congenital variant1Dec 24, 2021
Rhabdomyolysis1Jan 8, 2020
Rickets2Mar 19, 2020
Rod-cone dystrophy2May 3, 2020
Roussy-Lévy syndrome1Dec 15, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations1Dec 24, 2021
Salla disease1May 31, 2022
Schaaf-Yang syndrome1Jul 8, 2024
Seizure1Jan 8, 2020
Seizures, benign familial neonatal, 11May 31, 2022
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1Dec 5, 2022
Severe early-childhood-onset retinal dystrophy1Jul 8, 2024
Severe global developmental delay1Sep 16, 2020
Severe muscular hypotonia2Apr 22, 2020
Severe myoclonic epilepsy in infancy5Jun 13, 2023
Sialic acid storage disease, severe infantile type1May 31, 2022
Sifrim-Hitz-Weiss syndrome1Jun 9, 2021
Singleton-Merten syndrome 11Dec 5, 2022
Sjögren-Larsson syndrome2Feb 28, 2023
Skeletal dysplasia1Dec 5, 2022
Skin/hair/eye pigmentation, variation in, 21Mar 8, 2021
Snijders blok-fisher syndrome1Jul 24, 2023
Spastic ataxia 21Oct 17, 2023
Spastic paraplegia 82, autosomal recessive2Dec 24, 2021
Spinal muscular atrophy1Nov 29, 2019
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Dec 24, 2021
Spinocerebellar ataxia 441Dec 24, 2021
Spinocerebellar ataxia type 291Dec 5, 2022
Spinocerebellar ataxia type 423Dec 2, 2023
Spinocerebellar ataxia type 51Dec 5, 2022
Spinocerebellar ataxia type 61Dec 5, 2022
Spinocerebellar ataxia, autosomal recessive 261Jul 24, 2023
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22Dec 24, 2021
Sponastrime dysplasia1Oct 17, 2023
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1May 31, 2022
Spondyloepiphyseal dysplasia tarda1Jan 8, 2020
Stargardt disease 41Jul 8, 2024
Steel syndrome1Dec 5, 2022
Stickler syndrome type 21Jan 5, 2024
Stromme syndrome1Mar 18, 2020
Structural heart defects and renal anomalies syndrome1Jul 8, 2024
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1Jun 9, 2021
Syndromic X-linked intellectual disability Claes-Jensen type1Dec 5, 2022
Thrombophilia due to protein C deficiency, autosomal recessive1Jan 8, 2020
Transient bullous dermolysis of the newborn1Aug 24, 2023
Trichothiodystrophy 1, photosensitive1Dec 24, 2021
Tuberous sclerosis 11Jan 21, 2021
Tuberous sclerosis 21Jul 8, 2024
Type 2 diabetes mellitus1Jul 8, 2024
Tyrosinase-positive oculocutaneous albinism1Jul 8, 2024
Ullrich congenital muscular dystrophy 1A2May 31, 2022
Ulnar-mammary syndrome1Dec 5, 2022
Usher syndrome, type 41Jul 8, 2024
Van der Woude syndrome 11Jan 23, 2024
Vanishing white matter disease1May 31, 2022
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome2May 31, 2022
Vitamin D-dependent rickets, type 1A1Apr 20, 2023
Wilson disease1Dec 2, 2023
X-linked cone-rod dystrophy 11Dec 5, 2022
X-linked reticulate pigmentary disorder1Jun 9, 2021
Xeroderma pigmentosum, group D1Dec 24, 2021
diphthamide-deficiency syndrome1May 27, 2022
not provided3Dec 5, 2022