Laboratory of Medical Genetics (National & Kapodistrian University of Athens), LMG-NKUA

General information

Laboratory of Medical Genetics, LMG-NKUA
National & Kapodistrian University of Athens
Thivon and Levadeias
Athens
Attiki
Greece - 11527
http://www.iatrikigenetiki.med.uoa.gr/
Organization ID: 506664

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1071

Gene

GeneSubmissionsLast Updated
ABAT3May 29, 2023
ABCA46Jul 18, 2023
ABCB111Oct 9, 2021
ABCD12Jul 18, 2023
ACAD92Jul 18, 2023
ACADM2Jul 18, 2023
ACAN1Jul 18, 2023
ACTB1Mar 6, 2019
ACTL6B1Oct 9, 2021
ACTN21Oct 1, 2022
ACVRL13Oct 9, 2021
ADNP1Oct 9, 2021
AFF32Oct 1, 2022
AGL1Oct 1, 2022
AGXT2Mar 6, 2019
AIRE1Oct 9, 2021
AKT31Oct 9, 2021
ALAS21Oct 9, 2021
ALDH5A11Jul 18, 2023
ALDOA2Oct 9, 2021
ALDOB3Jul 18, 2023
ALMS11Jul 18, 2023
ALOX12B2Oct 9, 2021
ALPK31Oct 9, 2021
AMD11Oct 1, 2022
ANK21Oct 1, 2022
ANO55Oct 9, 2021
AP2M11Oct 1, 2022
AP4M11Oct 1, 2022
AP4S11Oct 1, 2022
APOA11Jul 18, 2023
APOA1-AS1Jul 18, 2023
APOB2Oct 9, 2021
ARPC1B1Oct 9, 2021
ARX3Jul 18, 2023
ASL1Oct 9, 2021
ASXL11Oct 1, 2022
ATL11Oct 1, 2022
ATM1Oct 1, 2022
ATP1A21Oct 1, 2022
ATP1A32Jul 18, 2023
ATP6V1B23Jul 18, 2023
ATP7A2Oct 1, 2022
ATRIP2Oct 1, 2022
ATRIP-TREX12Oct 1, 2022
ATXN101Oct 1, 2022
AVPR21Jul 18, 2023
BBS12Oct 9, 2021
BBS21Oct 9, 2021
BBS51Oct 9, 2021
BLM1Oct 1, 2022
BRAF1Oct 1, 2022
BRCA22Oct 9, 2021
BUB1B2Oct 9, 2021
C11orf651Oct 1, 2022
CACNA1A1Oct 1, 2022
CACNA1F1Oct 1, 2022
CACNA1S4Jul 18, 2023
CAMK2B1Oct 1, 2022
CAPN35Jul 18, 2023
CAPRIN11Jan 31, 2022
CASD11Oct 1, 2022
CASR1Oct 9, 2021
CBL1Oct 9, 2021
CCDST1Oct 9, 2021
CCN61Mar 6, 2019
CCNK1Oct 1, 2022
CDK191Oct 1, 2022
CDK81Oct 1, 2022
CDKL53Jul 18, 2023
CDKN1C1Oct 1, 2022
CEP2902Oct 1, 2022
CEP85L1Oct 1, 2022
CHD11Oct 1, 2022
CHD21Jan 23, 2024
CHD31Oct 1, 2022
CHD41Oct 9, 2021
CHD73Jul 18, 2023
CHM1Jul 18, 2023
CHRNG2Oct 9, 2021
CIC1Mar 6, 2019
CLCN127Mar 14, 2024
CLCN41Oct 9, 2021
CLCN71Oct 1, 2022
CLCNKB1Jul 18, 2023
CNGA11Oct 1, 2022
CNGB32Oct 1, 2022
CNOT31Oct 1, 2022
COL11A12Oct 1, 2022
COL1A17Jul 18, 2023
COL1A21Oct 1, 2022
COL2A18Jul 18, 2023
COL3A14Jul 18, 2023
COL4A13Oct 1, 2022
COL4A21Oct 9, 2021
COL4A32Jul 18, 2023
COL4A42Jul 18, 2023
COL4A59Oct 1, 2022
COL5A11Mar 6, 2019
COL6A15Oct 9, 2021
COL6A23Oct 9, 2021
COL6A32Oct 9, 2021
COL7A13Oct 9, 2021
COMP1Oct 9, 2021
CPLANE14Oct 9, 2021
CREBBP1Oct 1, 2022
CRYAA1Oct 1, 2022
CRYBB21Oct 1, 2022
CSNK2B2Mar 3, 2022
CTNNB11Oct 1, 2022
CTXN2-AS12Oct 1, 2022
CUL31Jul 18, 2023
CUX22Oct 1, 2022
CYCS1Oct 1, 2022
CYLD-AS11Oct 1, 2022
CYP21A21Oct 9, 2021
CYP27B12Jul 18, 2023
DCLRE1C2Oct 1, 2022
DCX1Oct 1, 2022
DDB11Oct 1, 2022
DDX111Oct 9, 2021
DDX3X2Jul 18, 2023
DDX592Oct 9, 2021
DEPDC51Oct 9, 2021
DHCR71Oct 9, 2021
DHX371Oct 1, 2022
DICER11Mar 27, 2020
DLG31Oct 9, 2021
DMD113Jul 18, 2023
DNAH112Dec 5, 2023
DNAJC191Oct 9, 2021
DNAJC302Oct 9, 2021
DNM1L1Oct 9, 2021
DNM22Oct 1, 2022
DPAGT12Oct 9, 2021
DPP61Oct 9, 2021
DUSP291Mar 6, 2019
DYNC1H11Jul 18, 2023
DYRK1A1Oct 9, 2021
EDA3Jul 18, 2023
EFTUD21May 29, 2023
EHMT11Oct 1, 2022
ELN1Jul 18, 2023
ENG1Oct 9, 2021
EXT12Jul 18, 2023
FANCA2May 29, 2023
FANCC1Oct 9, 2021
FANCL1Oct 9, 2021
FBLN51Oct 9, 2021
FBN123Jul 18, 2023
FBN22Oct 1, 2022
FBP12May 29, 2023
FERMT11Mar 6, 2019
FERRY31Oct 1, 2022
FGFR11Oct 9, 2021
FGFR21Oct 1, 2022
FGFR32Oct 1, 2022
FGG2Jul 18, 2023
FHL11Jul 18, 2023
FHOD31Oct 1, 2022
FKBP101Oct 9, 2021
FKRP1Oct 9, 2021
FKTN2Oct 9, 2021
FLCN2Oct 9, 2021
FLG1Oct 9, 2021
FLNA4Oct 1, 2022
FLNB1Oct 1, 2022
FOXG12Oct 1, 2022
FOXP11Oct 9, 2021
FREM11Mar 6, 2019
FRMPD41Oct 9, 2021
G6PD1Jul 18, 2023
GABBR22Oct 1, 2022
GALC2Oct 9, 2021
GALNS3Oct 9, 2021
GAREM21Oct 9, 2021
GATA21Oct 1, 2022
GBA12Jul 18, 2023
GCK1Oct 9, 2021
GCM21Oct 9, 2021
GDF91Oct 9, 2021
GFAP1Mar 6, 2019
GH-LCR1Oct 9, 2021
GHSR1Oct 9, 2021
GJB23Oct 9, 2021
GLB12Oct 1, 2022
GLI32Jul 18, 2023
GLMN1Jul 18, 2023
GMPPB2Oct 9, 2021
GNAO12Oct 1, 2022
GNAS2Oct 9, 2021
GNE4Jul 18, 2023
GNPTAB3Oct 9, 2021
GPT24Jul 18, 2023
GRIA21Oct 1, 2022
GRIN2A1Oct 1, 2022
GRIN2B2Oct 9, 2021
GRIN2D1Oct 1, 2022
GTPBP21Jan 27, 2023
GUCY2D2Oct 9, 2021
H3-3B1Oct 1, 2022
HADHA1Oct 9, 2021
HAX11May 29, 2023
HDAC41Oct 1, 2022
HGD2Oct 9, 2021
HIVEP22Jul 18, 2023
HNF1B1Oct 1, 2022
HNRNPA11Mar 6, 2019
HNRNPH21Oct 9, 2021
HNRNPU1Jul 18, 2023
HRAS1Oct 9, 2021
HUWE11Oct 9, 2021
IDH3A1Jul 18, 2023
IDS1Jul 18, 2023
IFIH11Mar 6, 2019
IFNAR2-IL10RB1Oct 9, 2021
IGSF11Oct 1, 2022
IL10RB1Oct 9, 2021
IQCE2May 29, 2023
ITCH1Mar 27, 2020
ITPR12Oct 9, 2021
ITSN11Oct 1, 2022
JAG11Oct 9, 2021
JAG21Oct 1, 2022
KANSL11Oct 9, 2021
KAT51Oct 1, 2022
KAT6A1Jul 24, 2022
KAT6B2Oct 1, 2022
KAT81May 23, 2022
KCNH21Oct 9, 2021
KCNJ101Oct 9, 2021
KCNJ21Mar 6, 2019
KCNJ81Oct 1, 2022
KCNQ12Oct 1, 2022
KCNQ1OT11Oct 1, 2022
KCNQ23Mar 27, 2020
KCNQ51Oct 9, 2021
KCNQ5-DT1Oct 9, 2021
KCNT15Jul 18, 2023
KDM6A1Mar 6, 2019
KIDINS2201Oct 1, 2022
KIF1A1Oct 1, 2022
KIF221Oct 9, 2021
KIF5C1Oct 1, 2022
KIFBP2Oct 9, 2021
KIT1Oct 9, 2021
KITLG1Oct 1, 2022
KLHL241Mar 6, 2019
KMT2A1Jul 18, 2023
KMT2C1Jul 18, 2023
KMT2D3Jul 18, 2023
KRAS2Jul 18, 2023
KRT101Oct 9, 2021
KRT10-AS11Oct 9, 2021
KRT91Oct 9, 2021
LAMA21Mar 6, 2019
LDLR3Jul 18, 2023
LHX41Oct 9, 2021
LIFR1Oct 1, 2022
LMNA5Jul 18, 2023
LOC1019271571Oct 1, 2022
LOC1027240588Nov 20, 2022
LOC1065017131Jul 18, 2023
LOC1066279812Jul 18, 2023
LOC1067808001Oct 9, 2021
LOC1096115891Jul 18, 2023
LOC1117184931Oct 9, 2021
LOC1126947562Oct 9, 2021
LOC1239562573Feb 26, 2024
LOC1268057941Jul 18, 2023
LOC1268065901Mar 6, 2019
LOC1268066591Oct 1, 2022
LOC1268605681Oct 1, 2022
LOC1268618972Jul 18, 2023
LOC1268622642Oct 1, 2022
LOC1268632072Jul 18, 2023
LOC1293913061Jul 18, 2023
LOC1299355941Jul 18, 2023
LOC1299965231Jan 27, 2023
LOC1299967111Oct 9, 2021
LOC1299986031Oct 9, 2021
LOC1300095851Oct 1, 2022
LOC1300569211Oct 9, 2021
LOC1300589301Jul 18, 2023
LOC1300601961Oct 9, 2021
LOX1Oct 1, 2022
LRBA1Oct 9, 2021
LRP22Oct 1, 2022
LRRC561Oct 9, 2021
LTBP21Jul 18, 2023
LZTR11Jul 18, 2023
MAB21L21Oct 9, 2021
MAGEL21Mar 6, 2019
MAP2K12Oct 1, 2022
MAPK11Oct 9, 2021
MECP27May 29, 2023
MED121Mar 6, 2019
MED131Oct 1, 2022
MED13L2Jan 23, 2022
MEF2C1Jul 18, 2023
MEFV2Oct 1, 2022
MEIS21Oct 9, 2021
MERTK1Dec 5, 2023
MFF-DT2Jul 18, 2023
MHRT1Jul 18, 2023
MID12Jul 18, 2023
MKS12Oct 9, 2021
MMP22Oct 9, 2021
MORC21Oct 1, 2022
MPV171Oct 9, 2021
MPZ1Oct 9, 2021
MTM14Jul 18, 2023
MTOR2Oct 9, 2021
MVP-DT2Jul 18, 2023
MYBPC33Oct 1, 2022
MYH111Oct 1, 2022
MYH141Mar 6, 2019
MYH23Jul 18, 2023
MYH31Jul 18, 2023
MYH75Jul 18, 2023
MYHAS3Jul 18, 2023
MYO7A1Oct 9, 2021
MYOC1Jul 18, 2023
MYT1L1Oct 9, 2021
NAA101Mar 6, 2019
NAGLU1Oct 9, 2021
NALCN1Mar 6, 2019
NALCN-AS11Mar 6, 2019
NDE11Oct 1, 2022
NEB1Oct 9, 2021
NEK92Oct 9, 2021
NEXMIF1Oct 9, 2021
NF196Jul 18, 2023
NF21Apr 1, 2021
NFIA1Jul 18, 2023
NFIX2Oct 1, 2022
NHLRC11Oct 9, 2021
NIPBL2Oct 9, 2021
NKAP1Oct 1, 2022
NKX2-11Oct 9, 2021
NLRP121Oct 9, 2021
NOD21Oct 1, 2022
NOG2Mar 3, 2022
NOTCH22Jul 18, 2023
NOTCH33Jul 18, 2023
NPHS11Oct 9, 2021
NPHS22Oct 1, 2022
NPR22Oct 9, 2021
NR1D11Oct 9, 2021
NR2F11Oct 21, 2022
NR5A11Oct 9, 2021
NSD112Jul 18, 2023
OCRL1Oct 9, 2021
OFD11Oct 1, 2022
OPA12Oct 1, 2022
OPN1LW1Oct 9, 2021
ORC42Oct 9, 2021
PACS21Oct 1, 2022
PAFAH1B11Jul 24, 2022
PAX32Oct 1, 2022
PAX63Oct 1, 2022
PCDH194Oct 1, 2022
PDE6B1Jan 8, 2024
PDE6G1Oct 1, 2022
PDHA11Mar 6, 2019
PEPD2Oct 9, 2021
PHEX1Jul 18, 2023
PHEX-AS11Jul 18, 2023
PHF61Oct 1, 2022
PHKA21Oct 1, 2022
PIK3CA2Oct 9, 2021
PIK3R12Oct 9, 2021
PKD16Jul 18, 2023
PKD1-AS11Oct 9, 2021
PKD1L11Oct 9, 2021
PKD21Oct 9, 2021
PKHD17Jul 18, 2023
PKLR2Oct 9, 2021
PLN1Oct 1, 2022
PLP11Oct 1, 2022
PLS31Oct 1, 2022
PMM22Oct 1, 2022
PMP221Oct 9, 2021
PNKD1Jul 18, 2023
POGZ1Oct 1, 2022
POLR1C1Jan 27, 2023
POLR2A1Oct 1, 2022
POLR3B2Oct 1, 2022
POU3F41Oct 9, 2021
PPP1CB1Oct 9, 2021
PRDM51Oct 9, 2021
PROKR21Oct 9, 2021
PRRT22Jul 18, 2023
PTCH12Oct 9, 2021
PTPN1111Oct 1, 2022
PURA4Jul 18, 2023
PYGM2Oct 1, 2022
RAB11B1Oct 1, 2022
RAB9B1Oct 1, 2022
RAG11Oct 9, 2021
RAPSN2Jul 18, 2023
RARB1Oct 1, 2022
RB11Oct 1, 2022
RIC11Oct 1, 2022
RIT13Oct 9, 2021
RNASEH2A1Jul 18, 2023
RNASEH2C1Oct 9, 2021
RNF2131Mar 6, 2019
RNF213-AS11Mar 6, 2019
RP21Oct 9, 2021
RPGR2Oct 1, 2022
RPL111Oct 1, 2022
RPL36A-HNRNPH21Oct 9, 2021
RPS261Mar 27, 2020
RPS6KA31Mar 6, 2019
RUNX22Jul 18, 2023
RYR118Dec 5, 2023
SACS2Dec 5, 2023
SAR1B2May 29, 2023
SBDS2Oct 9, 2021
SCN1A20Dec 5, 2023
SCN1A-AS12Oct 9, 2021
SCN2A2Jul 18, 2023
SCN4A1Oct 9, 2021
SCN5A3Oct 1, 2022
SCN8A2Jul 18, 2023
SCN9A2Oct 9, 2021
SDHB1Oct 9, 2021
SDHC1Oct 9, 2021
SET1Oct 9, 2021
SETD1B3Jul 18, 2023
SETD21Oct 1, 2022
SETD51May 29, 2023
SF3B11Oct 1, 2022
SFTA31Oct 9, 2021
SGCB1Oct 9, 2021
SGCE1Oct 1, 2022
SH3BP21Oct 1, 2022
SH3TC22Oct 1, 2022
SHANK31Jul 18, 2023
SHH1Oct 1, 2022
SHOC21Oct 9, 2021
SIX31Oct 9, 2021
SLC12A12Oct 1, 2022
SLC12A34Oct 1, 2022
SLC22A51Jul 18, 2023
SLC29A31Oct 9, 2021
SLC2A12Oct 1, 2022
SLC37A41Jul 18, 2023
SLC52A21Oct 9, 2021
SLC6A82Jul 18, 2023
SMAD42Jul 18, 2023
SMARCA21Jan 31, 2022
SMCHD11Oct 9, 2021
SNHG141Oct 1, 2022
SOS13Oct 9, 2021
SOS21Oct 9, 2021
SPAST4Oct 9, 2021
SPECC1L1Oct 1, 2022
SPECC1L-ADORA2A1Oct 1, 2022
SPEN1Jul 18, 2023
SPOP1Oct 1, 2022
SPTA11Oct 1, 2022
SPTAN11Oct 9, 2021
SPTB2Jul 18, 2023
SRCAP2Jul 18, 2023
SRFBP11Oct 1, 2022
SSR41Jul 18, 2023
STXBP13Jul 18, 2023
SYNGAP14Jul 18, 2023
SYNGAP1-AS14Jul 18, 2023
TAOK11May 29, 2023
TBCEL-TECTA3Oct 1, 2022
TBX11Oct 1, 2022
TCF121Jul 18, 2023
TCF41Jul 18, 2023
TECTA3Oct 1, 2022
TEK2Jul 18, 2023
TGFB22Jul 18, 2023
TGFB31Mar 6, 2019
TGFBI1Jul 18, 2023
TGFBR21Oct 9, 2021
TGM61Oct 9, 2021
THRA1Oct 9, 2021
TMEM106B1Oct 9, 2021
TMPRSS151Oct 9, 2021
TMPRSS61Oct 9, 2021
TNC1Mar 6, 2019
TNFRSF13B1Oct 9, 2021
TNNT22Oct 9, 2021
TOR1A1Oct 9, 2021
TP631Oct 9, 2021
TPM11Oct 9, 2021
TPM21Oct 9, 2021
TPP12Oct 1, 2022
TRAPPC21Oct 1, 2022
TREX12Oct 1, 2022
TRIP121Oct 9, 2021
TRPS12Oct 1, 2022
TRPV42Jul 18, 2023
TRPV61Jul 18, 2023
TSC13Jul 24, 2022
TSC21Oct 1, 2022
TTC21B1Oct 1, 2022
TTN2Oct 1, 2022
TTN-AS12Oct 1, 2022
TUBB2B1Oct 1, 2022
TUBB31Oct 1, 2022
TULP11Oct 9, 2021
TWNK2Oct 1, 2022
TYR4Oct 9, 2021
UBE3A1Oct 1, 2022
UFM11Oct 1, 2022
USH2A3May 29, 2023
USP9X3Oct 1, 2022
VWF1Jul 18, 2023
WAS1Oct 9, 2021
WDR731Jul 24, 2022
WFS12Oct 9, 2021
WNK41Oct 9, 2021
WNT11Oct 9, 2021
WNT10A1Oct 9, 2021
XK1Oct 9, 2021
ZDHHC241Oct 9, 2021
ZFPM21Oct 9, 2021
ZMYM21Oct 1, 2022
ZNF1421Jul 28, 2022
ZNF4621Jul 18, 2023
ZNF6991Oct 1, 2022

Condition

NameSubmissionsLast Updated
11q partial monosomy syndrome1May 29, 2023
15q11q13 microduplication syndrome1May 29, 2023
3-methylglutaconic aciduria type 51Oct 9, 2021
46,XY sex reversal 111Oct 1, 2022
46,XY sex reversal 91Oct 9, 2021
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Oct 9, 2021
AFF3-related neurodevelopmental disorders1Jan 31, 2022
ATP6V1B2 related neurodevelopmental disorders1Jan 18, 2022
Achondroplasia1Oct 1, 2022
Achromatopsia 32Oct 1, 2022
Acromesomelic dysplasia 1, Maroteaux type1Oct 9, 2021
Acyl-CoA dehydrogenase 9 deficiency2Jul 18, 2023
Adrenoleukodystrophy2Jul 18, 2023
Aicardi-Goutieres syndrome 11Oct 1, 2022
Aicardi-Goutieres syndrome 31Oct 9, 2021
Aicardi-Goutieres syndrome 41Jul 18, 2023
Aicardi-Goutieres syndrome 71Mar 6, 2019
Alagille syndrome due to a JAG1 point mutation1Oct 9, 2021
Alagille syndrome due to a NOTCH2 point mutation1Jul 18, 2023
Alexander disease1Mar 6, 2019
Alkaptonuria2Oct 9, 2021
Alstrom syndrome1Jul 18, 2023
Andersen Tawil syndrome1Mar 6, 2019
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Jul 18, 2023
Angelman syndrome1Oct 1, 2022
Aniridia 13Oct 1, 2022
Aortic aneurysm, familial thoracic 101Oct 1, 2022
Aortic aneurysm, familial thoracic 41Oct 1, 2022
Arrhythmogenic right ventricular dysplasia 11Mar 6, 2019
Ataxia-telangiectasia syndrome1Oct 1, 2022
Autistic behavior1Oct 1, 2022
Autosomal dominant Alport syndrome2Jul 18, 2023
Autosomal dominant centronuclear myopathy2Oct 1, 2022
Autosomal dominant hypocalcemia 11Oct 9, 2021
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Jul 24, 2022
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1Oct 9, 2021
Autosomal dominant nonsyndromic hearing loss 111Oct 9, 2021
Autosomal dominant nonsyndromic hearing loss 121Oct 1, 2022
Autosomal dominant nonsyndromic hearing loss 4A1Mar 6, 2019
Autosomal dominant nonsyndromic hearing loss 561Mar 6, 2019
Autosomal dominant optic atrophy classic form2Oct 1, 2022
Autosomal dominant osteopetrosis 21Oct 1, 2022
Autosomal recessive congenital ichthyosis 22Oct 9, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2A5Jul 18, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2E1Oct 9, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2I1Oct 9, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2J2Oct 1, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2L3Oct 9, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2T2Oct 9, 2021
Autosomal recessive multiple pterygium syndrome2Oct 9, 2021
Autosomal recessive nonsyndromic hearing loss 1A2Mar 6, 2019
Autosomal recessive nonsyndromic hearing loss 212Oct 9, 2021
Autosomal recessive polycystic kidney disease2Mar 6, 2019
Axenfeld-Rieger syndrome type 31May 29, 2023
Baraitser-Winter syndrome 11Mar 6, 2019
Bardet-Biedl syndrome 12Oct 9, 2021
Bardet-Biedl syndrome 21Oct 9, 2021
Bardet-Biedl syndrome 51Oct 9, 2021
Bartter disease type 12Oct 1, 2022
Bartter disease type 31Jul 18, 2023
Becker muscular dystrophy14May 29, 2023
Beckwith-Wiedemann syndrome1Oct 1, 2022
Benign familial hematuria2Jul 18, 2023
Benign hereditary chorea1Oct 9, 2021
Bethlem myopathy 1A6Oct 9, 2021
Birt-Hogg-Dube syndrome2Oct 9, 2021
Blepharophimosis - intellectual disability syndrome, SBBYS type2Oct 1, 2022
Bloom syndrome1Oct 1, 2022
Bohring-Opitz syndrome1Oct 1, 2022
Bone mineral density quantitative trait locus 181Oct 1, 2022
Boomerang dysplasia1Oct 1, 2022
Bosch-Boonstra-Schaaf optic atrophy syndrome1Oct 21, 2022
Brachydactyly type B21Oct 9, 2021
Brain malformations with or without urinary tract defects1Jul 18, 2023
Brain small vessel disease 1 with or without ocular anomalies3Oct 1, 2022
Brittle cornea syndrome 21Oct 9, 2021
Brown-Vialetto-van Laere syndrome 21Oct 9, 2021
Bruck syndrome 11Oct 9, 2021
Brugada syndrome 11Oct 9, 2021
Bryant-Li-Bhoj neurodevelopmental syndrome 21Oct 1, 2022
CAPRIN1-related neurodevelopmental disorders1Jan 31, 2022
CBL-related disorder1Oct 9, 2021
CHARGE association3Jul 18, 2023
CLAPO syndrome2Oct 9, 2021
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Jan 23, 2022
Cardiac arrhythmia, ankyrin-B-related1Oct 1, 2022
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Oct 9, 2021
Cardiofaciocutaneous syndrome 11Oct 1, 2022
Cardiofaciocutaneous syndrome 32Oct 1, 2022
Cardiomyopathy, familial hypertrophic 271Oct 9, 2021
Cardiomyopathy, familial hypertrophic, 281Oct 1, 2022
Cataract 3 multiple types1Oct 1, 2022
Cataract 9 multiple types1Oct 1, 2022
Catifa syndrome1Oct 1, 2022
Central core myopathy13Dec 5, 2023
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Oct 9, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 13Jul 18, 2023
Channelopathy-associated congenital insensitivity to pain, autosomal recessive2Oct 9, 2021
Charcot-Marie-Tooth disease dominant intermediate D1Oct 9, 2021
Charcot-Marie-Tooth disease type 4C2Oct 1, 2022
Charcot-Marie-Tooth disease, type IA1Oct 9, 2021
Charlevoix-Saguenay spastic ataxia2Dec 5, 2023
Chilblain lupus 11Oct 9, 2021
Cholestasis1May 29, 2023
Choroideremia1Jul 18, 2023
Chromosome 15q11.2 deletion syndrome1May 29, 2023
Chromosome 1q21.1 duplication syndrome1May 29, 2023
Chromosome 2q37 deletion syndrome1Oct 1, 2022
Chylomicron retention disease2May 29, 2023
Clark-Baraitser syndrome1Oct 9, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Oct 9, 2021
Cleidocranial dysostosis2Jul 18, 2023
Coffin-Lowry syndrome1Mar 6, 2019
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1Oct 9, 2021
Complex cortical dysplasia with other brain malformations 11Oct 1, 2022
Complex cortical dysplasia with other brain malformations 21Oct 1, 2022
Complex cortical dysplasia with other brain malformations 71Oct 1, 2022
Cone monochromatism1Oct 9, 2021
Congenital contractural arachnodactyly2Oct 1, 2022
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Mar 6, 2019
Congenital multicore myopathy with external ophthalmoplegia3Jul 18, 2023
Congenital muscular dystrophy due to LMNA mutation3Jul 18, 2023
Congenital myasthenic syndrome 112Jul 18, 2023
Congenital myasthenic syndrome 132Oct 9, 2021
Congenital myasthenic syndrome 4C1Oct 9, 2021
Congenital myopathy 231Oct 9, 2021
Congenital myotonia, autosomal dominant form1Feb 26, 2024
Congenital myotonia, autosomal recessive form26Mar 14, 2024
Congenital nongoitrous hypothryoidism 61Oct 9, 2021
Congenital reticular ichthyosiform erythroderma1Oct 9, 2021
Cornelia de Lange syndrome 12Oct 9, 2021
Costello syndrome1Oct 9, 2021
Creatine transporter deficiency2Jul 18, 2023
Crouzon syndrome1Oct 1, 2022
DEGCAGS syndrome1Oct 1, 2022
DYRK1A-related intellectual disability syndrome1Oct 9, 2021
Developmental and epileptic encephalopathy 941Jan 23, 2024
Developmental and epileptic encephalopathy 991Jul 18, 2023
Developmental and epileptic encephalopathy, 13Jul 18, 2023
Developmental and epileptic encephalopathy, 112Jul 18, 2023
Developmental and epileptic encephalopathy, 132Jul 18, 2023
Developmental and epileptic encephalopathy, 144Jul 18, 2023
Developmental and epileptic encephalopathy, 23Jul 18, 2023
Developmental and epileptic encephalopathy, 43Jul 18, 2023
Developmental and epileptic encephalopathy, 421Oct 1, 2022
Developmental and epileptic encephalopathy, 461Oct 1, 2022
Developmental and epileptic encephalopathy, 51Oct 9, 2021
Developmental and epileptic encephalopathy, 541Jul 18, 2023
Developmental and epileptic encephalopathy, 592Oct 1, 2022
Developmental and epileptic encephalopathy, 661Oct 1, 2022
Developmental and epileptic encephalopathy, 672Oct 1, 2022
Developmental and epileptic encephalopathy, 72Mar 27, 2020
Developmental and epileptic encephalopathy, 871Oct 1, 2022
Developmental and epileptic encephalopathy, 93Oct 1, 2022
Developmental delay with or without intellectual impairment or behavioral abnormalities1May 29, 2023
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy2Oct 1, 2022
DiGeorge syndrome1Oct 1, 2022
Diabetes insipidus, nephrogenic, X-linked1Jul 18, 2023
Diamond-Blackfan anemia 101Mar 27, 2020
Diamond-Blackfan anemia 71Oct 1, 2022
Dilated cardiomyopathy 1AA1Oct 1, 2022
Dilated cardiomyopathy 1D2Oct 9, 2021
Dilated cardiomyopathy 1E1Oct 1, 2022
Dilated cardiomyopathy 1P1Oct 1, 2022
Dilated cardiomyopathy 1S3Oct 9, 2021
Dilated cardiomyopathy 1Y1Oct 9, 2021
Dilated cardiomyopathy 3B3Dec 22, 2022
Donnai-Barrow syndrome2Oct 1, 2022
Duchenne muscular dystrophy92Jul 18, 2023
EAST syndrome1Oct 9, 2021
Early-onset generalized limb-onset dystonia1Oct 9, 2021
Ehlers-Danlos syndrome, classic type1Mar 6, 2019
Ehlers-Danlos syndrome, type 41Oct 9, 2021
Ehlers-danlos syndrome, arthrochalasia type, 21Oct 1, 2022
Elevated circulating creatine kinase concentration4Jan 30, 2023
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Oct 9, 2021
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11Oct 9, 2021
Enterokinase deficiency1Oct 9, 2021
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1Mar 6, 2019
Epilepsy, familial focal, with variable foci 11Oct 9, 2021
Euthyroid goiter1Mar 27, 2020
Exostoses, multiple, type 12Jul 18, 2023
Facioscapulohumeral muscular dystrophy 21Oct 9, 2021
Familial Mediterranean fever2Oct 1, 2022
Familial X-linked hypophosphatemic vitamin D refractory rickets1Jul 18, 2023
Familial cold autoinflammatory syndrome 21Oct 9, 2021
Familial dysfibrinogenemia1Oct 9, 2021
Familial hypobetalipoproteinemia 11Oct 9, 2021
Familial hypokalemia-hypomagnesemia4Oct 1, 2022
Familial visceral amyloidosis, Ostertag type1Jul 18, 2023
Fanconi anemia complementation group A2May 29, 2023
Fanconi anemia complementation group C1Oct 9, 2021
Fanconi anemia complementation group D12Oct 9, 2021
Fanconi anemia complementation group L1Oct 9, 2021
Fibrous dysplasia of jaw1Oct 1, 2022
Finnish congenital nephrotic syndrome1Oct 9, 2021
Floating-Harbor syndrome2Jul 18, 2023
Freeman-Sheldon syndrome1Jul 18, 2023
Fructose-biphosphatase deficiency2May 29, 2023
GNE myopathy4Jul 18, 2023
Galactosylceramide beta-galactosidase deficiency2Oct 9, 2021
Galloway-Mowat syndrome 11Jul 24, 2022
Gamma-aminobutyric acid transaminase deficiency3May 29, 2023
Gaucher disease type I2Jul 18, 2023
Generalized epilepsy with febrile seizures plus, type 210Nov 20, 2022
Gillespie syndrome1Mar 6, 2019
Glaucoma 1, open angle, A1Jul 18, 2023
Glomuvenous malformation1Jul 18, 2023
Glucose-6-phosphate transport defect1Jul 18, 2023
Glutamate pyruvate transaminase 2 deficiency3Jul 18, 2023
Glycogen storage disease IXa11Oct 1, 2022
Glycogen storage disease type III1Oct 1, 2022
Glycogen storage disease, type V2Oct 1, 2022
Goldberg-Shprintzen syndrome4Oct 9, 2021
Gorlin syndrome2Oct 9, 2021
Greig cephalopolysyndactyly syndrome2Jul 18, 2023
H syndrome1Oct 9, 2021
HNF1B-related disorder1May 29, 2023
HNSHA due to aldolase A deficiency2Oct 9, 2021
Hajdu-Cheney syndrome1Oct 1, 2022
Hearing loss, autosomal dominant 371Oct 1, 2022
Hereditary cryohydrocytosis with reduced stomatin2Oct 1, 2022
Hereditary fructosuria3Jul 18, 2023
Hereditary spastic paraplegia 3A1Oct 1, 2022
Hereditary spastic paraplegia 410Jul 18, 2023
Hereditary spastic paraplegia 501Oct 1, 2022
Hereditary spastic paraplegia 731Jul 18, 2023
Hereditary spherocytosis type 22Jul 18, 2023
Hereditary spherocytosis type 31Oct 1, 2022
Heterotaxy, visceral, 8, autosomal1Oct 9, 2021
Heterotopia, periventricular, X-linked dominant1Oct 9, 2021
Histiocytic medullary reticulosis1Oct 9, 2021
Holoprosencephaly 22Oct 9, 2021
Holoprosencephaly 31Oct 1, 2022
Houge-Janssens syndrome 31May 29, 2023
Hutchinson-Gilford syndrome1Jul 18, 2023
Hypercholesterolemia, autosomal dominant, type B1Oct 9, 2021
Hypercholesterolemia, familial, 13Jul 18, 2023
Hyperinsulinism due to glucokinase deficiency1Oct 9, 2021
Hyperparathyroidism 41Oct 9, 2021
Hyperparathyroidism, transient neonatal1Jul 18, 2023
Hyperpigmentation with or without hypopigmentation, familial progressive1Oct 1, 2022
Hypertrichotic osteochondrodysplasia Cantu type1Oct 1, 2022
Hypertrophic cardiomyopathy 11Jul 18, 2023
Hypertrophic cardiomyopathy 43Oct 1, 2022
Hypogonadotropic hypogonadism 26 with or without anosmia1Jul 18, 2023
Hypogonadotropic hypogonadism 3 with or without anosmia1Oct 9, 2021
Hypohidrotic X-linked ectodermal dysplasia3Jul 18, 2023
Hypokalemic periodic paralysis, type 14Jul 18, 2023
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2Oct 1, 2022
Ichthyosis vulgaris1Oct 9, 2021
Immunodeficiency 361Oct 9, 2021
Immunodeficiency 611May 29, 2023
Immunodeficiency, common variable, 21Oct 9, 2021
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31Mar 6, 2019
Infantile GM1 gangliosidosis2Oct 1, 2022
Infantile convulsions and choreoathetosis3Jul 18, 2023
Infantile onset spinocerebellar ataxia2Oct 1, 2022
Inflammatory bowel disease 11Oct 1, 2022
Inflammatory bowel disease 251Oct 9, 2021
Intellectual developmental disorder 60 with seizures1Oct 1, 2022
Intellectual developmental disorder 611Oct 1, 2022
Intellectual developmental disorder with hypertelorism and distinctive facies1Oct 1, 2022
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Oct 1, 2022
Intellectual developmental disorder with seizures and language delay3Jul 18, 2023
Intellectual developmental disorder with severe speech and ambulation defects1Oct 9, 2021
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Oct 1, 2022
Intellectual disability1May 29, 2023
Intellectual disability, X-linked 1022Jul 18, 2023
Intellectual disability, X-linked 1041Oct 9, 2021
Intellectual disability, X-linked 491Oct 9, 2021
Intellectual disability, X-linked 901Oct 9, 2021
Intellectual disability, X-linked 992Oct 1, 2022
Intellectual disability, X-linked 99, syndromic, female-restricted1Oct 9, 2021
Intellectual disability, X-linked syndromic, Turner type1Oct 9, 2021
Intellectual disability, X-linked, syndromic, Bain type1Oct 9, 2021
Intellectual disability, autosomal dominant 11May 29, 2023
Intellectual disability, autosomal dominant 131Jul 18, 2023
Intellectual disability, autosomal dominant 201Jul 18, 2023
Intellectual disability, autosomal dominant 331Oct 9, 2021
Intellectual disability, autosomal dominant 391Oct 9, 2021
Intellectual disability, autosomal dominant 432Jul 18, 2023
Intellectual disability, autosomal dominant 451Mar 6, 2019
Intellectual disability, autosomal dominant 461Oct 9, 2021
Intellectual disability, autosomal dominant 53Jul 18, 2023
Intellectual disability, autosomal dominant 541Oct 1, 2022
Intellectual disability, autosomal dominant 581Oct 9, 2021
Intellectual disability, autosomal dominant 62Oct 9, 2021
Intellectual disability, autosomal dominant 91Oct 1, 2022
Intellectual disability, autosomal recessive 661Oct 1, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1May 29, 2023
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Oct 1, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Oct 9, 2021
Iron-refractory iron deficiency anemia1Oct 9, 2021
Jaberi-Elahi syndrome1Jan 27, 2023
Joubert syndrome 172Oct 9, 2021
Joubert syndrome 282Oct 9, 2021
KCNT1-related channelopathy1Jan 31, 2022
KINSSHIP syndrome1Oct 1, 2022
Kabuki syndrome 13Jul 18, 2023
Kabuki syndrome 21Mar 6, 2019
Kindler syndrome1Mar 6, 2019
Kleefstra syndrome 11Oct 1, 2022
Kleefstra syndrome 21Jul 18, 2023
Klinefelter syndrome1May 29, 2023
Koolen-de Vries syndrome1Oct 9, 2021
Kostmann syndrome1May 29, 2023
LEOPARD syndrome 13Oct 1, 2022
Lafora disease1Oct 9, 2021
Landau-Kleffner syndrome1Oct 1, 2022
Leber congenital amaurosis 12Oct 9, 2021
Leber congenital amaurosis 151Oct 9, 2021
Leber hereditary optic neuropathy, autosomal recessive2Oct 9, 2021
Leukodystrophy, hypomyelinating, 141Oct 1, 2022
Leukodystrophy, hypomyelinating, 161Oct 9, 2021
Li-Ghorbani-Weisz-Hubshman syndrome1May 23, 2022
Lissencephaly due to LIS1 mutation1Jul 24, 2022
Lissencephaly type 1 due to doublecortin gene mutation1Oct 1, 2022
Loeys-Dietz syndrome 21Oct 9, 2021
Loeys-Dietz syndrome 42Jul 18, 2023
Long QT syndrome 12Oct 1, 2022
Long QT syndrome 21Oct 9, 2021
Long QT syndrome 31Oct 9, 2021
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1Oct 9, 2021
Lowe syndrome1Oct 9, 2021
Luscan-Lumish syndrome1Oct 1, 2022
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2Oct 9, 2021
Macular degeneration, age-related, 31Oct 9, 2021
Malan overgrowth syndrome1Oct 9, 2021
Malignant hyperthermia, susceptibility to, 12Mar 6, 2019
Mandibulofacial dysostosis-microcephaly syndrome1May 29, 2023
Marfan syndrome23Jul 18, 2023
Marshall-Smith syndrome1Oct 1, 2022
McLeod neuroacanthocytosis syndrome1Oct 9, 2021
Meckel syndrome, type 42Oct 1, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Jul 18, 2023
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Oct 9, 2021
Meier-Gorlin syndrome 22Oct 9, 2021
Melnick-Needles syndrome1Oct 9, 2021
Menkes kinky-hair syndrome2Oct 1, 2022
Microcephalic primordial dwarfism, Alazami type1Oct 1, 2022
Microphthalmia, syndromic 121Oct 1, 2022
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma1Jul 18, 2023
Migraine, familial hemiplegic, 21Oct 1, 2022
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1Oct 9, 2021
Miyoshi muscular dystrophy 32Oct 9, 2021
Monocytopenia with susceptibility to infections1Oct 1, 2022
Mosaic variegated aneuploidy syndrome 11Oct 9, 2021
Moyamoya disease 21Mar 6, 2019
Mucolipidosis type II3Oct 9, 2021
Mucopolysaccharidosis, MPS-II1Jul 18, 2023
Mucopolysaccharidosis, MPS-III-B1Oct 9, 2021
Mucopolysaccharidosis, MPS-IV-A3Oct 9, 2021
Muenke syndrome1Oct 1, 2022
Multicentric osteolysis nodulosis arthropathy spectrum2Oct 9, 2021
Multiple cutaneous and mucosal venous malformations2Jul 18, 2023
Multiple epiphyseal dysplasia type 11Oct 9, 2021
Muscular dystrophy, limb-girdle, autosomal recessive 231Mar 6, 2019
Muscular dystrophy, limb-girdle, autosomal recessive 271Oct 1, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 42Oct 9, 2021
Myelodysplastic syndrome1Oct 1, 2022
Myhre syndrome2Jul 18, 2023
Myoclonic dystonia 111Oct 1, 2022
Myopathy, proximal, and ophthalmoplegia3Jul 18, 2023
Myopathy, reducing body, X-linked, early-onset, severe1Jul 18, 2023
Myosin storage myopathy1Jul 18, 2023
NOG-related disorder1Mar 3, 2022
Nemaline myopathy 21Oct 9, 2021
Nephronophthisis 121Oct 1, 2022
Nephrotic syndrome, type 22Oct 1, 2022
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter1Oct 1, 2022
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities1Oct 1, 2022
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Oct 1, 2022
Neurodevelopmental disorder with impaired speech and hyperkinetic movements1Jul 28, 2022
Neurodevelopmental disorder with involuntary movements2Oct 1, 2022
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Oct 1, 2022
Neurodevelopmental disorder with microcephaly and dysmorphic facies1Oct 1, 2022
Neurodevelopmental disorder with or without autism or seizures1Jul 18, 2023
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities1Oct 1, 2022
Neurofibromatosis, type 197Jul 18, 2023
Neuronal ceroid lipofuscinosis 22Oct 1, 2022
Nicolaides-Baraitser syndrome1Jan 31, 2022
Noonan syndrome 18Oct 1, 2022
Noonan syndrome 101Jul 18, 2023
Noonan syndrome 131Oct 9, 2021
Noonan syndrome 32Jul 18, 2023
Noonan syndrome 43Oct 9, 2021
Noonan syndrome 83Oct 9, 2021
Noonan syndrome 91Oct 9, 2021
Noonan syndrome-like disorder with loose anagen hair 11Oct 9, 2021
Noonan syndrome-like disorder with loose anagen hair 21Oct 9, 2021
Oculocutaneous albinism type 1B1Mar 6, 2019
Ogden syndrome1Mar 6, 2019
Orofaciodigital syndrome V2Oct 9, 2021
Osteogenesis imperfecta type 151Oct 9, 2021
Osteogenesis imperfecta type I6Jul 18, 2023
Osteogenesis imperfecta with normal sclerae, dominant form1Mar 6, 2019
Oto-palato-digital syndrome, type I2Oct 1, 2022
PCDH19-related epilespy1Jan 31, 2022
PMM2-congenital disorder of glycosylation2Oct 1, 2022
PNPO-related disorder1May 29, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome4Jul 18, 2023
Palmoplantar keratoderma, epidermolytic1Oct 9, 2021
Paragangliomas 41Oct 9, 2021
Paroxysmal nonkinesigenic dyskinesia 11Jul 18, 2023
Pelizaeus-Merzbacher disease1Oct 1, 2022
Phelan-McDermid syndrome1Jul 18, 2023
Piebaldism1Oct 9, 2021
Pilarowski-Bjornsson syndrome1Oct 1, 2022
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1Oct 9, 2021
Poirier-Bienvenu neurodevelopmental syndrome2Mar 3, 2022
Polycystic kidney disease 21Oct 9, 2021
Polycystic kidney disease 45Jul 18, 2023
Polycystic kidney disease, adult type6Jul 18, 2023
Polydactyly, postaxial, type a72May 29, 2023
Polyglandular autoimmune syndrome, type 11Oct 9, 2021
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome2Oct 1, 2022
Porencephaly 21Oct 9, 2021
Potocki-Lupski syndrome1May 29, 2023
Premature chromatid separation trait1Oct 9, 2021
Premature ovarian failure 141Oct 9, 2021
Premature ovarian failure 71Oct 9, 2021
Primary ciliary dyskinesia1May 29, 2023
Primary ciliary dyskinesia 72Dec 5, 2023
Primary hyperoxaluria, type I2Mar 6, 2019
Progressive familial intrahepatic cholestasis type 21Oct 9, 2021
Progressive pseudorheumatoid dysplasia1Mar 6, 2019
Prolidase deficiency2Oct 9, 2021
Pseudohypoaldosteronism type 2B1Oct 9, 2021
Pseudopseudohypoparathyroidism1Oct 9, 2021
Pyruvate dehydrogenase E1-alpha deficiency1Mar 6, 2019
Pyruvate kinase deficiency of red cells2Oct 9, 2021
Radio-Tartaglia syndrome1Jul 18, 2023
Recessive dystrophic epidermolysis bullosa3Oct 9, 2021
Reis-Bucklers' corneal dystrophy1Jul 18, 2023
Renal carnitine transport defect1Jul 18, 2023
Renal cysts and diabetes syndrome1Oct 1, 2022
Retinitis pigmentosa 21Oct 9, 2021
Retinitis pigmentosa 381Dec 5, 2023
Retinitis pigmentosa 401Jan 8, 2024
Retinitis pigmentosa 491Oct 1, 2022
Retinitis pigmentosa 571Oct 1, 2022
Retinitis pigmentosa 901Jul 18, 2023
Retinoblastoma1Oct 1, 2022
Rett syndrome7May 29, 2023
Rett syndrome, congenital variant2Oct 1, 2022
Rotor syndrome1May 29, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations1Oct 1, 2022
SCN1A-related channelopathy1Jan 31, 2022
SHORT syndrome1Oct 9, 2021
SSR4-congenital disorder of glycosylation1Jul 18, 2023
SYNGAP1-related encephalopathy1Jan 31, 2022
Schaaf-Yang syndrome1Mar 6, 2019
Schwannomatosis 11May 29, 2023
Seizures, benign familial neonatal, 11Mar 27, 2020
Severe X-linked myotubular myopathy4Jul 18, 2023
Severe combined immunodeficiency due to DCLRE1C deficiency2Oct 1, 2022
Severe early-childhood-onset retinal dystrophy6Jul 18, 2023
Severe myoclonic epilepsy in infancy10Dec 5, 2023
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans1Jul 18, 2023
Short stature due to growth hormone secretagogue receptor deficiency1Oct 9, 2021
Short stature with nonspecific skeletal abnormalities1Oct 9, 2021
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Oct 9, 2021
Shwachman-Diamond syndrome 12Oct 9, 2021
Sifrim-Hitz-Weiss syndrome1Oct 9, 2021
Smith-Lemli-Opitz syndrome1Oct 9, 2021
Snijders Blok-Campeau syndrome1Oct 1, 2022
Sotos syndrome12Jul 18, 2023
Spastic paraplegia 52, autosomal recessive1Oct 1, 2022
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Oct 1, 2022
Spinocerebellar ataxia type 101Oct 1, 2022
Spinocerebellar ataxia type 15/161Oct 9, 2021
Spinocerebellar ataxia type 351Oct 9, 2021
Split hand-foot malformation 41Oct 9, 2021
Spondyloepimetaphyseal dysplasia with multiple dislocations1Oct 9, 2021
Spondyloepimetaphyseal dysplasia, Maroteaux type1Jul 18, 2023
Spondyloepimetaphyseal dysplasia, Strudwick type1Oct 9, 2021
Spondylometaphyseal dysplasia, Kozlowski type1Oct 9, 2021
Spondyloperipheral dysplasia5Jul 18, 2023
Stickler syndrome type 11Oct 9, 2021
Stickler syndrome type 21Mar 6, 2019
Stickler syndrome, type I, nonsyndromic ocular1Mar 6, 2019
Stüve-Wiedemann syndrome 11Oct 1, 2022
Succinate-semialdehyde dehydrogenase deficiency1Jul 18, 2023
Supravalvar aortic stenosis1Jul 18, 2023
Syndromic multisystem autoimmune disease due to ITCH deficiency1Mar 27, 2020
Teebi hypertelorism syndrome 11Oct 1, 2022
Telangiectasia, hereditary hemorrhagic, type 11Oct 9, 2021
Telangiectasia, hereditary hemorrhagic, type 23Oct 9, 2021
Thrombocytopenia 41Oct 1, 2022
Tooth agenesis, selective, 41Oct 9, 2021
Trichorhinophalangeal dysplasia type I2Oct 1, 2022
Trigonocephaly 11Oct 9, 2021
Trigonocephaly 21Mar 6, 2019
Tuberous sclerosis 13Jul 24, 2022
Tuberous sclerosis 21Oct 1, 2022
Tyrosinase-negative oculocutaneous albinism3Oct 9, 2021
Ullrich congenital muscular dystrophy 1A4Oct 9, 2021
Usher syndrome type 2A3May 29, 2023
Vitamin D-dependent rickets, type 1A2Jul 18, 2023
WDR73-related disorder1May 29, 2023
Waardenburg syndrome type 12Oct 1, 2022
Warsaw breakage syndrome1Oct 9, 2021
Weiss-kruszka syndrome1Jul 18, 2023
White-Kernohan syndrome1Oct 1, 2022
Wiedemann-Steiner syndrome1Jul 18, 2023
Williams syndrome1May 29, 2023
Wiskott-Aldrich syndrome1Oct 9, 2021
Wolfram syndrome 12Oct 9, 2021
X-linked Alport syndrome9Oct 1, 2022
X-linked Opitz G/BBB syndrome2Jul 18, 2023
X-linked central congenital hypothyroidism with late-onset testicular enlargement1Oct 1, 2022
X-linked cone-rod dystrophy 12Oct 1, 2022
X-linked cone-rod dystrophy 31Oct 1, 2022
X-linked ichthyosis with steryl-sulfatase deficiency1May 29, 2023
X-linked intellectual disability with marfanoid habitus1Mar 6, 2019
X-linked intellectual disability, Cantagrel type1Oct 9, 2021
X-linked mixed hearing loss with perilymphatic gusher1Oct 9, 2021
X-linked sideroblastic anemia 11Oct 9, 2021
Zimmermann-Laband syndrome 22Jul 18, 2023
not provided2May 29, 2023
von Willebrand disease type 11Jul 18, 2023