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Rady Children's Institute for Genomic Medicine (Rady Children's Hospital San Diego), RCIGM

General information

Rady Children's Institute for Genomic Medicine, RCIGM
Rady Children's Hospital San Diego
3020 Childrens Way
San Diego
California
United States - 92123
https://www.radygenomics.org/
Organization ID: 506081

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 525

Gene

GeneSubmissionsLast Updated
ABCA32Jul 31, 2020
ABCC22Sep 20, 2019
ABCC85Oct 15, 2021
ACADVL1Jul 31, 2020
ACOX11Oct 15, 2021
ACTA14Oct 15, 2021
ACTA21Jul 31, 2020
ACTB1Oct 15, 2021
ACTC11Sep 20, 2019
ACTG22Apr 29, 2020
ACTN21Jul 31, 2020
ACVRL11Sep 20, 2019
ADNP1Jul 31, 2020
AIRE2Oct 31, 2017
ALDH18A11Sep 20, 2019
ALDH7A12Sep 20, 2019
ALG121Jul 31, 2020
ALMS12Sep 20, 2019
ALPL2Oct 15, 2021
AMT2Jul 31, 2020
ANTXR22Jul 31, 2020
AP1S11Oct 15, 2021
APOB2Jul 31, 2020
ARFGEF11Oct 14, 2021
ARHGEF61Oct 14, 2021
ARID1A2Jul 31, 2020
ARID1B1Jul 26, 2017
ARID21Jul 31, 2020
ARSA2Oct 15, 2021
ASCC12Oct 15, 2021
ASH1L1Oct 14, 2021
ASL1Sep 20, 2019
ASNS1Jul 31, 2020
ASPA1Sep 20, 2019
ASPM1Jul 31, 2020
ATAD3A1Sep 20, 2019
ATM3Oct 15, 2021
ATP1A34Jul 31, 2020
ATP7A1Jul 31, 2020
ATP8B11Oct 15, 2021
ATRIP1Oct 15, 2021
ATRIP-TREX11Oct 15, 2021
ATRX1Sep 20, 2019
B9D11Jul 31, 2020
BBS11Sep 20, 2019
BBS102Jul 31, 2020
BBS22Jul 31, 2020
BCKDHA1Sep 20, 2019
BCKDHB1Sep 20, 2019
BCOR1Oct 15, 2021
BPTF1Jul 31, 2020
BRAT13Jul 31, 2020
BRCA12Sep 20, 2019
BRCA24Oct 15, 2021
BRD41Aug 5, 2020
BRIP12Oct 15, 2021
BTK1Sep 26, 2018
C11orf652Oct 15, 2021
C17orf1071Sep 20, 2019
C1GALT1C11Sep 20, 2019
CACNA1A2Sep 20, 2019
CACNA1C1Sep 20, 2019
CACNA1S1Jul 31, 2020
CARD112Sep 20, 2019
CASD11Oct 15, 2021
CASR1Sep 20, 2019
CD362Sep 20, 2019
CEP412Sep 20, 2019
CFTR2Oct 15, 2021
CHD22Oct 15, 2021
CHD41Oct 15, 2021
CHD79Oct 15, 2021
CHEK21Jul 31, 2020
CHRNE1Sep 20, 2019
CHRNG2Sep 20, 2019
CIC1Jul 31, 2020
CLASP12Sep 20, 2019
CLPB1Oct 15, 2021
CNTNAP12Sep 20, 2019
COL12A11Sep 20, 2019
COL2A14Jul 31, 2020
COL4A11Oct 15, 2021
COL4A41Dec 28, 2021
COL7A11Jul 31, 2020
COMP4Sep 20, 2019
CPLANE12Jul 31, 2020
CREBBP2Oct 14, 2021
CSNK2B2Oct 15, 2021
CTCF1Jul 31, 2020
CTNNB11Aug 5, 2020
CUL72Jul 31, 2020
CWF19L12Aug 5, 2020
CZ1P-ASNS1Jul 31, 2020
DCLRE1C1Jul 31, 2020
DDX3X1Oct 15, 2021
DICER11Aug 29, 2019
DIPK1A1Sep 20, 2019
DSP2Jul 31, 2020
DUOX23Jul 31, 2020
DUSP292Oct 15, 2021
DYRK1A1Oct 14, 2021
EBF31Sep 20, 2019
ECHS12Sep 20, 2019
EEF1A21Jul 31, 2020
EFTUD22Jul 31, 2020
EIF2B22Jul 31, 2020
ELP41Sep 20, 2019
ENPP12Sep 20, 2019
EPG52Jul 31, 2020
EPHB41Sep 20, 2019
ERCC21Jul 31, 2020
ERCC62Jul 31, 2020
ERCC6-PGBD31Sep 20, 2019
EVC21Jul 31, 2020
F13A11Sep 14, 2018
F21Sep 20, 2019
FANCA1Sep 20, 2019
FAS1Sep 20, 2019
FGFR31Sep 20, 2019
FLCN1Jul 31, 2020
FLI11Jul 31, 2020
FLNA1Oct 14, 2021
FLNC2Jul 31, 2020
FLNC-AS11Sep 20, 2019
FLT41Sep 20, 2019
FOXC11Sep 20, 2019
FOXC21Sep 20, 2019
FOXF12Oct 15, 2021
FOXP32Jul 31, 2020
G6PC32Sep 20, 2019
G6PD3Jul 31, 2020
GABRA11Apr 4, 2017
GALC1Jul 31, 2020
GALE2Aug 5, 2020
GALNS1Oct 15, 2021
GBA1Sep 20, 2019
GBE11Sep 20, 2019
GH-LCR1Jul 31, 2020
GJB11Sep 20, 2019
GJB21Sep 20, 2019
GJD2-DT1Sep 20, 2019
GMPPB1Jul 31, 2020
GNAO11Oct 15, 2021
GNAS1Dec 20, 2017
GNPTAB1Sep 20, 2019
GREB1L1Sep 20, 2019
HBB4Jul 31, 2020
HDAC81Jul 31, 2020
HEXA2Jul 31, 2020
HLCS2Sep 20, 2019
HPDL1Oct 15, 2021
HRAS1Sep 20, 2019
HSD17B43Oct 15, 2021
HYLS11Sep 20, 2019
IDH11Sep 20, 2019
IDUA1Oct 15, 2021
IGHMBP24Jul 31, 2020
IGSF11Oct 15, 2021
IKZF11Oct 15, 2019
IL2RG3Oct 14, 2021
IL7R2Sep 20, 2019
INS1Apr 22, 2019
INS-IGF21Apr 22, 2019
IRAK11Aug 5, 2020
IRF2BPL1Sep 20, 2019
KARS11Jul 31, 2020
KAT6A1Sep 20, 2019
KAT6B3Oct 15, 2021
KCNA11Oct 15, 2021
KCNC11Sep 20, 2019
KCNQ11Sep 20, 2019
KCNQ28Oct 15, 2021
KCNQ32Oct 15, 2021
KCNT11Jul 31, 2020
KCTD11Jul 31, 2020
KDM6A2Sep 20, 2019
KMT2B1Sep 20, 2019
KMT2D5Oct 15, 2021
KMT2E1Jul 31, 2020
KMT5B1Jul 31, 2020
LDLR4Jul 31, 2020
LMNA1Jul 31, 2020
LOC1027240584Oct 14, 2021
LOC1060990624Jul 31, 2020
LOC1066279811Sep 20, 2019
LOC1071335104Jul 31, 2020
LOC1080218462Jul 31, 2020
LOC1100112161Jul 31, 2020
LOC1116744771Oct 15, 2021
LRRC561Sep 20, 2019
LZTR12Sep 20, 2019
MAGEL21Sep 20, 2019
MC2R1Sep 20, 2019
MEA12Jul 31, 2020
MECP23Oct 15, 2021
MIF4GD-DT1Sep 20, 2019
MIPEP2Jul 31, 2020
MMUT2Sep 20, 2019
MOCS12Sep 20, 2019
MOCS21Oct 15, 2021
MPV172Jul 31, 2020
MSH61Oct 15, 2021
MTM14Oct 15, 2021
MTR1Sep 20, 2019
MYBPC35Oct 15, 2021
MYH21Oct 15, 2021
MYH76Oct 15, 2021
MYHAS1Oct 15, 2021
MYLK1Sep 20, 2019
MYO5B2Jul 31, 2020
MYRF2Oct 15, 2021
NAA151Oct 14, 2021
NALCN1Sep 20, 2019
NAXD1Jul 31, 2020
NAXE1Jul 31, 2020
NDUFA11Aug 5, 2020
NDUFS31Sep 20, 2019
NDUFV12Sep 20, 2019
NEB7Jul 31, 2020
NEXMIF1Oct 15, 2021
NF11Sep 20, 2019
NFIX1Sep 20, 2019
NFU11Oct 15, 2021
NIPBL2Oct 15, 2021
NODAL3Jul 31, 2020
NOTCH11Sep 20, 2019
NPC15Jul 31, 2020
NPHS11Oct 15, 2021
NPRL22Jul 31, 2020
NSD11Sep 20, 2019
OPA11Sep 20, 2019
OTC5Oct 15, 2021
PACS11Oct 15, 2021
PALB21Oct 14, 2021
PAX21Oct 15, 2021
PAX61Sep 20, 2019
PCCA1Oct 15, 2021
PCDH192Dec 28, 2021
PDHA12Jul 31, 2020
PEPD2Jul 31, 2020
PEX11Sep 20, 2019
PEX121Sep 20, 2019
PEX62Jul 31, 2020
PGM11Sep 20, 2019
PHGDH1Oct 15, 2021
PHOX2B2Jul 31, 2020
PIEZO11Sep 20, 2019
PIK3CA1Oct 15, 2021
PKD11Jul 31, 2020
PKHD12Oct 15, 2021
PKLR2Oct 15, 2021
PLA2G62Sep 20, 2019
PLPBP2Jul 31, 2020
PMM22Sep 20, 2019
PMS21Sep 20, 2019
POGZ1Oct 14, 2021
POLG2Oct 15, 2021
POLR1C1Sep 20, 2019
PORCN1Sep 20, 2019
PPA22May 20, 2020
PPP2R1A1Jul 31, 2020
PPP2R5D2Jul 31, 2020
PTCH11Jul 31, 2020
PTPN115Oct 15, 2021
PUF601Oct 15, 2021
PUM11Jul 31, 2020
PURA1Sep 20, 2019
PUS31Sep 20, 2019
PYGM2Sep 20, 2019
QARS11Jul 31, 2020
RAD511Oct 15, 2021
RAF12Oct 15, 2021
RAPSN2Oct 15, 2021
RBM101Jul 31, 2020
RELA1Sep 20, 2019
RET2Sep 20, 2019
RIF12Sep 20, 2019
RIT12Oct 15, 2021
RNU4ATAC2Sep 20, 2019
RORB1Oct 14, 2021
RPL51Sep 20, 2019
RRAS21Oct 15, 2021
RYR15Sep 20, 2019
RYR21Dec 28, 2021
SBDS1Sep 20, 2019
SCARB11Sep 20, 2019
SCN1A6Oct 14, 2021
SCN2A2Oct 15, 2021
SCN4A1Jul 31, 2020
SCN5A3Sep 20, 2019
SCYL11Sep 20, 2019
SDHA4Jul 31, 2020
SERPINA11Sep 20, 2019
SETD1B1Sep 20, 2019
SETD22Jul 31, 2020
SGCE1Oct 15, 2021
SHANK31Oct 14, 2021
SHOC21Sep 20, 2019
SI2Jul 31, 2020
SKI1Sep 20, 2019
SLC19A31Oct 15, 2021
SLC25A151Jul 31, 2020
SLC25A192Sep 20, 2019
SLC26A21Sep 20, 2019
SLC27A42Jul 31, 2020
SLC2A11Jul 31, 2020
SLC35A22Oct 15, 2021
SMARCA21Jul 31, 2020
SMARCB11Sep 20, 2019
SMC31Jul 31, 2020
SNAP251Jul 31, 2020
SOX93Jul 31, 2020
SPATA221Sep 20, 2019
SPTA11Jul 31, 2020
SPTB1Sep 20, 2019
STRA62Jul 31, 2020
SUOX1Apr 14, 2021
SYNGAP11Sep 20, 2019
SYNGAP1-AS11Sep 20, 2019
TAB21Oct 15, 2021
TAFAZZIN1Sep 20, 2019
TANGO21Sep 20, 2019
TBCD2Sep 20, 2019
TCF121Jul 31, 2020
TET33Mar 11, 2022
TGFBR11Sep 20, 2019
TH2Sep 20, 2019
THAP11Sep 20, 2019
TLK21Jul 31, 2020
TMEM2372Sep 20, 2019
TPM21Sep 20, 2019
TREX12Oct 15, 2021
TRNT11Sep 20, 2019
TRPS11Sep 20, 2019
TSC21Sep 20, 2019
TTN3Jul 31, 2020
TTN-AS12Jul 31, 2020
TTR1Sep 20, 2019
TUBA1A1Jul 31, 2020
TUBB2B1Sep 20, 2019
TUBB31Jul 31, 2020
UFM11Oct 15, 2021
USP9X1Oct 15, 2021
VARS11Apr 4, 2018
VARS21Apr 4, 2018
VKORC11Sep 20, 2019
VWF2Aug 5, 2020
WT11Apr 29, 2020
ZDHHC241Sep 20, 2019
ZEB22Sep 20, 2019
ZNF2761Sep 20, 2019

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 21Sep 20, 2019
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia1Oct 15, 2021
3M syndrome 12Jul 31, 2020
8q24.3 microdeletion syndrome1Oct 15, 2021
ABCC8-related disorders1Oct 15, 2021
ACOX1-related disorders1Oct 15, 2021
ACTA1-related myopathies2Oct 15, 2021
ACTN2-related disorders1Jul 31, 2020
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Jul 31, 2020
ALDH18A1-related de Barsy syndrome1Sep 20, 2019
ALG12-congenital disorder of glycosylation1Jul 31, 2020
ARFGEF1-RELATED DISORDER1Oct 14, 2021
ATM-related disorders1Oct 15, 2021
ATP1A3-Related Disorders1Jul 31, 2020
ATP8B1-Related Disorders1Oct 15, 2021
ATTRV122I amyloidosis1Sep 20, 2019
Actin accumulation myopathy2Sep 20, 2019
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1Sep 20, 2019
Aganglionic megacolon1Sep 20, 2019
Aicardi-Goutieres syndrome 11Sep 20, 2019
Alpha thalassemia-X-linked intellectual disability syndrome1Sep 20, 2019
Alpha-1-antitrypsin deficiency1Sep 20, 2019
Alport syndrome1Dec 28, 2021
Alstrom syndrome2Sep 20, 2019
Alternating hemiplegia of childhood 23Sep 20, 2019
Alveolar capillary dysplasia with pulmonary venous misalignment2Oct 15, 2021
Amish lethal microcephaly2Sep 20, 2019
Anemia1Sep 20, 2019
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Sep 20, 2019
Aniridia 11Sep 20, 2019
Aortic aneurysm, familial thoracic 71Sep 20, 2019
Argininosuccinate lyase deficiency1Sep 20, 2019
Arrhythmogenic right ventricular dysplasia 21Dec 28, 2021
Arrhythmogenic right ventricular dysplasia 82Jul 31, 2020
Ataxia-telangiectasia syndrome1Sep 20, 2019
Autoimmune lymphoproliferative syndrome type 11Sep 20, 2019
Autosomal dominant KAT6B-related disorders2Jul 31, 2020
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome2Oct 15, 2021
Autosomal dominant hypocalcemia 11Sep 20, 2019
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Sep 20, 2019
Autosomal dominant nocturnal frontal lobe epilepsy 51Jul 31, 2020
Autosomal dominant nonsyndromic hearing loss 3A1Sep 20, 2019
Autosomal recessive distal spinal muscular atrophy 12Sep 20, 2019
Autosomal recessive multiple pterygium syndrome2Sep 20, 2019
Autosomal recessive polycystic kidney disease2Oct 15, 2021
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2Sep 20, 2019
Autosomal recessive spinocerebellar ataxia 172Aug 5, 2020
Axenfeld-Rieger syndrome type 31Sep 20, 2019
BCOR-related disorders1Oct 15, 2021
BRAT1-associated neurodegenerative disorder1Jul 31, 2020
BRCA2-Related Disorders1Oct 14, 2021
BRIP1-associated familial cancer predisposition1Oct 15, 2021
Baraitser-Winter syndrome 11Oct 15, 2021
Bardet-Biedl syndrome 11Sep 20, 2019
Bardet-Biedl syndrome 102Jul 31, 2020
Bardet-Biedl syndrome 22Jul 31, 2020
Bifunctional peroxisomal enzyme deficiency3Oct 15, 2021
Biotin-responsive basal ganglia disease1Oct 15, 2021
Bleeding disorder, platelet-type, 211Jul 31, 2020
Brain small vessel disease 1 with or without ocular anomalies2Oct 15, 2021
Breast and colorectal cancer, susceptibility to1Jul 31, 2020
Breast cancer, susceptibility to1Jul 31, 2020
Breast-ovarian cancer, familial, susceptibility to, 12Sep 20, 2019
Brugada syndrome 13Sep 20, 2019
CACNA1C-Related Disorders1Sep 20, 2019
CHARGE association9Oct 15, 2021
COL2A1-related skeletal dysplasia2Jul 31, 2020
CREBBP-Related Disorders1Oct 14, 2021
Campomelic dysplasia with autosomal sex reversal2Sep 20, 2019
Camptomelic dysplasia1Jul 31, 2020
Cardiac-urogenital syndrome1Jul 31, 2020
Cardiomyopathy5Jul 31, 2020
Catecholaminergic polymorphic ventricular tachycardia 11Dec 28, 2021
Central core disease, autosomal recessive2Sep 20, 2019
Central core myopathy1Sep 20, 2019
Charcot-Marie-Tooth disease X-linked dominant 11Sep 20, 2019
Cockayne syndrome type 22Jul 31, 2020
Coffin-Siris syndrome 11Jul 26, 2017
Coffin-Siris syndrome 61Jul 31, 2020
Colorectal cancer, hereditary nonpolyposis, type 41Sep 20, 2019
Colorectal cancer, hereditary nonpolyposis, type 51Oct 15, 2021
Combined immunodeficiency, X-linked3Oct 14, 2021
Complex cortical dysplasia with other brain malformations 71Sep 20, 2019
Congenital central hypoventilation1Jul 31, 2020
Congenital central hypoventilation syndrome, with or without Hirschsprung disease1Jul 31, 2020
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Sep 20, 2019
Congenital heart defects, multiple types, 21Oct 15, 2021
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1Jul 31, 2020
Congenital microvillous atrophy2Jul 31, 2020
Congenital myasthenic syndrome 181Jul 31, 2020
Congenital myasthenic syndrome 4B1Sep 20, 2019
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1Sep 20, 2019
Cornelia de Lange syndrome 12Oct 15, 2021
Cornelia de Lange syndrome 31Jul 31, 2020
Cornelia de Lange syndrome 51Jul 31, 2020
Coronary sclerosis, medial, of infancy2Sep 20, 2019
Costello syndrome1Sep 20, 2019
Cystic fibrosis2Oct 15, 2021
DYRK1A-related disorder1Oct 14, 2021
De Lange syndrome1Aug 5, 2020
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Sep 20, 2019
Deletion syndrome1Feb 21, 2020
Developmental and epileptic encephalopathy 942Oct 15, 2021
Developmental and epileptic encephalopathy, 111Sep 20, 2019
Developmental and epileptic encephalopathy, 191Apr 4, 2017
Developmental and epileptic encephalopathy, 421Sep 20, 2019
Developmental and epileptic encephalopathy, 73Jul 31, 2020
Developmental and epileptic encephalopathy, 92Dec 28, 2021
Diabetes mellitus, transient neonatal, 21Sep 20, 2019
Diamond-Blackfan anemia 61Sep 20, 2019
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1Jul 31, 2020
Dilated cardiomyopathy 1A1Jul 31, 2020
Distal arthrogryposis type 2B11Sep 20, 2019
Distichiasis-lymphedema syndrome1Sep 20, 2019
Dubin-Johnson syndrome2Sep 20, 2019
Dystonia 28, childhood-onset1Sep 20, 2019
Dystonic disorder2Sep 20, 2019
EEF1A2-related disorders1Jul 31, 2020
ERCC2-related conditions1Jul 31, 2020
Early-onset myopathy with fatal cardiomyopathy2Jul 31, 2020
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2Sep 20, 2019
Ellis-van Creveld syndrome1Jul 31, 2020
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy1Jul 31, 2020
Epilepsy1Sep 20, 2019
Epilepsy, benign neonatal, 1, and/or myokymia1Sep 20, 2019
Epilepsy, early-onset, vitamin B6-dependent2Jul 31, 2020
Epilepsy, familial focal, with variable foci 22Jul 31, 2020
Epilepsy, idiopathic generalized, susceptibility to, 151Oct 14, 2021
Episodic ataxia type 21Sep 20, 2019
Episodic ataxia/myokymia syndrome1Oct 15, 2021
FLNA related disorders1Oct 14, 2021
FLNC-Related Disorders1Jul 31, 2020
Factor XIII, A subunit, deficiency of1Sep 14, 2018
Familial hypercholesterolemia3Jul 31, 2020
Fanconi anemia1Sep 20, 2019
Finnish congenital nephrotic syndrome1Oct 15, 2021
Focal dermal hypoplasia1Sep 20, 2019
G6PD TOMAH1Sep 20, 2019
GNAO1-Related Condition1Oct 15, 2021
Galactosylceramide beta-galactosidase deficiency1Jul 31, 2020
Gaucher disease type II1Sep 20, 2019
Glucocorticoid deficiency 11Sep 20, 2019
Glycogen storage disease, type IV1Sep 20, 2019
Glycogen storage disease, type V2Sep 20, 2019
Gorlin syndrome1Jul 31, 2020
Harel-Yoon syndrome1Sep 20, 2019
Hb SS disease2Jul 31, 2020
Heart, malformation of1Sep 20, 2019
Hemolytic anemia, G6PD deficient (favism)1Jul 31, 2020
Hereditary breast ovarian cancer syndrome1Oct 15, 2021
Hereditary cancer-predisposing syndrome3Oct 14, 2021
Hereditary lymphedema type I1Sep 20, 2019
Hereditary spherocytosis type 21Sep 20, 2019
High density lipoprotein cholesterol level quantitative trait locus 61Sep 20, 2019
Hirschsprung disease, susceptibility to, 11Sep 20, 2019
Holocarboxylase synthetase deficiency2Sep 20, 2019
Hyaline fibromatosis syndrome2Jul 31, 2020
Hypercholesterolemia, autosomal dominant, type B1Jul 31, 2020
Hypercholesterolemia, familial, 11Sep 20, 2019
Hyperinsulinemic hypoglycemia, familial, 13Aug 5, 2020
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1Jul 31, 2020
Hypertrophic cardiomyopathy 111Sep 20, 2019
Hypertrophic cardiomyopathy 44Oct 15, 2021
Hypobetalipoproteinemia1Sep 20, 2019
Hypokalemic periodic paralysis, type 11Jul 31, 2020
Hypophosphatasia2Oct 15, 2021
Hypotonia, ataxia, and delayed development syndrome1Sep 20, 2019
Ichthyosis prematurity syndrome2Jul 31, 2020
Infantile neuroaxonal dystrophy2Sep 20, 2019
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2Jul 31, 2020
Intellectual disability, X-linked 1021Oct 15, 2021
Intellectual disability, X-linked 991Oct 15, 2021
Intellectual disability, autosomal dominant 142Jul 31, 2020
Intellectual disability, autosomal dominant 451Jul 31, 2020
Intellectual disability, autosomal dominant 51Sep 20, 2019
Intellectual disability, autosomal dominant 511Jul 31, 2020
Intellectual disability, autosomal dominant 521Oct 14, 2021
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Jul 31, 2020
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome2Jul 31, 2020
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Oct 14, 2021
Interstitial lung disease due to ABCA3 deficiency2Jul 31, 2020
Intracerebral hemorrhage2Oct 15, 2021
Isolated sulfite oxidase deficiency1Apr 14, 2021
Joubert syndrome 142Sep 20, 2019
Joubert syndrome 152Sep 20, 2019
Joubert syndrome 172Jul 31, 2020
Joubert syndrome 271Jul 31, 2020
KARS-related disorders1Jul 31, 2020
KCNQ2-Related Disorders3Oct 15, 2021
Kabuki syndrome 15Oct 15, 2021
Kabuki syndrome 22Sep 20, 2019
Lethal congenital contracture syndrome 72Sep 20, 2019
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome2Jul 31, 2020
Lethal neonatal spasticity-epileptic encephalopathy syndrome2Sep 20, 2019
Leukodystrophy, hypomyelinating, 141Oct 15, 2021
Loeys-Dietz syndrome 11Sep 20, 2019
Long QT syndrome 11Sep 20, 2019
Lowry-Wood syndrome2Sep 20, 2019
Luscan-Lumish syndrome1Sep 20, 2019
Lymphatic malformation 71Sep 20, 2019
MEDNIK syndrome1Oct 15, 2021
MYBPC3-related cardiomyopathies1Oct 15, 2021
MYH7-Related Disorders2Oct 15, 2021
MYRF-Related Disorders1Oct 15, 2021
Malignant hyperthermia, susceptibility to, 11Sep 20, 2019
Mandibulofacial dysostosis-microcephaly syndrome2Jul 31, 2020
Maple syrup urine disease1Sep 20, 2019
Maple syrup urine disease type 1A1Sep 20, 2019
Marshall-Smith syndrome1Sep 20, 2019
Matthew-Wood syndrome2Jul 31, 2020
Medulloblastoma1Aug 29, 2019
Menkes kinky-hair syndrome1Jul 31, 2020
Metachromatic leukodystrophy2Oct 15, 2021
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria1Sep 20, 2019
Methylcobalamin deficiency type cblG1Sep 20, 2019
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2Sep 20, 2019
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant2Oct 15, 2021
Microcephaly 5, primary, autosomal recessive1Jul 31, 2020
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome1Jul 31, 2020
Mitochondrial DNA depletion syndrome 4b2Oct 15, 2021
Mitochondrial complex 1 deficiency, nuclear type 121Aug 5, 2020
Mitochondrial complex I deficiency3Sep 20, 2019
Mitochondrial complex II deficiency, nuclear type 12Sep 20, 2019
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency2Sep 20, 2019
Mowat-Wilson syndrome2Sep 20, 2019
Mucocutaneous ulceration1Sep 20, 2019
Mucopolysaccharidosis type 11Oct 15, 2021
Mucopolysaccharidosis, MPS-IV-A1Oct 15, 2021
Muenke syndrome1Sep 20, 2019
Multiminicore myopathy1Sep 20, 2019
Multiple epiphyseal dysplasia type 14Sep 20, 2019
Multiple epiphyseal dysplasia type 41Sep 20, 2019
Multiple fibrofolliculomas1Jul 31, 2020
Multiple mitochondrial dysfunctions syndrome 11Oct 15, 2021
Multisystemic smooth muscle dysfunction syndrome1Jul 31, 2020
Muscular dystrophy-dystroglycanopathy1Jul 31, 2020
Myoclonic dystonia 111Oct 15, 2021
Myopathy, proximal, and ophthalmoplegia1Oct 15, 2021
NAD(P)HX dehydratase deficiency1Jul 31, 2020
Navajo neurohepatopathy2Jul 31, 2020
Nemaline myopathy 27Jul 31, 2020
Nephrotic syndrome, type 41Apr 29, 2020
Neurodevelopmental disorder3Jul 31, 2020
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Jul 31, 2020
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy1Apr 4, 2018
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities1Oct 15, 2021
Neurofibromatosis, type 11Sep 20, 2019
Nicolaides-Baraitser syndrome1Jul 31, 2020
Niemann-Pick disease, type C11Apr 4, 2017
Niemann-Pick disease, type C1, juvenile form2Jul 31, 2020
Non-ketotic hyperglycinemia2Jul 31, 2020
Noonan syndrome 11Sep 20, 2019
Noonan syndrome 101Sep 20, 2019
Noonan syndrome 121Oct 15, 2021
Noonan syndrome 21Sep 20, 2019
Noonan syndrome 51Jul 31, 2020
Noonan syndrome 82Oct 15, 2021
Noonan syndrome-like disorder with loose anagen hair1Sep 20, 2019
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Sep 20, 2019
Ornithine carbamoyltransferase deficiency5Oct 15, 2021
Ovarian Cancers1Sep 20, 2019
PAX2-related disorder1Oct 15, 2021
PEX6-Related Disorders2Jul 31, 2020
PGM1-CDG1Sep 20, 2019
PHGDH deficiency1Oct 15, 2021
PIK3CA related overgrowth syndrome1Oct 15, 2021
PMM2-CDG2Sep 20, 2019
PTPN11 Related Disorders4Oct 15, 2021
PURA Syndrome1Sep 20, 2019
Pancytopenia due to IKZF1 mutations1Oct 15, 2019
Paragangliomas 51Sep 20, 2019
Permanent neonatal diabetes mellitus1Apr 22, 2019
Peroxisome biogenesis disorder 1B1Sep 20, 2019
Peroxisome biogenesis disorder 3A (Zellweger)1Sep 20, 2019
Phelan-McDermid syndrome1Oct 14, 2021
Platelet-type bleeding disorder 102Sep 20, 2019
Poirier-Bienvenu neurodevelopmental syndrome2Oct 15, 2021
Polyagglutinable erythrocyte syndrome1Sep 20, 2019
Polycystic kidney disease, adult type1Jul 31, 2020
Polyglandular autoimmune syndrome, type 12Oct 31, 2017
Primary familial hypertrophic cardiomyopathy1Sep 20, 2019
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12Oct 15, 2021
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12Oct 15, 2021
Progressive myoclonic epilepsy type 71Sep 20, 2019
Progressive sclerosing poliodystrophy2Oct 15, 2021
Prolidase deficiency2Jul 31, 2020
Propionic acidemia1Oct 15, 2021
Pseudo-Hurler polydystrophy1Sep 20, 2019
Pseudopseudohypoparathyroidism1Dec 20, 2017
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia1Sep 20, 2019
Pyridoxine-dependent epilepsy2Sep 20, 2019
Pyruvate dehydrogenase E1-alpha deficiency2Jul 31, 2020
Pyruvate kinase deficiency of red cells2Oct 15, 2021
RAD51-related disorders1Oct 15, 2021
RAF1-related disorders1Oct 15, 2021
RAPSN-Related Disorders2Oct 15, 2021
Recessive dystrophic epidermolysis bullosa1Jul 31, 2020
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Sep 20, 2019
Renal hypodysplasia/aplasia 31Sep 20, 2019
Retinal arterial tortuosity2Oct 15, 2021
Rett syndrome2Oct 15, 2021
Rubinstein-Taybi syndrome due to CREBBP mutations1Jul 31, 2020
SCN1A Seizure Disorders1Jul 31, 2020
SCN1A-related conditions3Oct 14, 2021
SCN2A-Related Disorders1Oct 15, 2021
SCN4A-Related Disorders1Jul 31, 2020
SDHA-Related Disorders1Jul 31, 2020
SETD2-related disorder1Jul 31, 2020
SLC2A1-Related Disorders1Jul 31, 2020
SLC35A2-CDG2Oct 15, 2021
SPTA1-related disorders1Jul 31, 2020
Scalp-ear-nipple syndrome1Jul 31, 2020
Schaaf-Yang syndrome1Sep 20, 2019
Schuurs-Hoeijmakers syndrome1Oct 15, 2021
Seizures, benign familial neonatal, 11Oct 15, 2021
Seizures, benign familial neonatal, 22Oct 15, 2021
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Oct 15, 2021
Severe X-linked myotubular myopathy4Oct 15, 2021
Severe combined immunodeficiency disease1Jul 31, 2020
Severe combined immunodeficiency due to CARD11 deficiency2Sep 20, 2019
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive2Sep 20, 2019
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1Sep 20, 2019
Severe intellectual disability-progressive spastic diplegia syndrome1Aug 5, 2020
Severe myoclonic epilepsy in infancy2Aug 5, 2020
Severe neonatal-onset encephalopathy with microcephaly1Sep 20, 2019
Shprintzen-Goldberg syndrome1Sep 20, 2019
Shwachman-Diamond syndrome 11Sep 20, 2019
Sifrim-Hitz-Weiss syndrome1Oct 15, 2021
Sotos syndrome 11Sep 20, 2019
Sphingomyelin/cholesterol lipidosis2Jul 31, 2020
Spinal muscular atrophy2Jul 31, 2020
Spinal muscular atrophy with congenital bone fractures 22Oct 15, 2021
Spinocerebellar ataxia 471Jul 31, 2020
Spondyloepiphyseal dysplasia congenita1Sep 20, 2019
Spongy degeneration of central nervous system1Sep 20, 2019
Stickler syndrome type 11Sep 20, 2019
Sucrase-isomaltase deficiency2Jul 31, 2020
Sudden cardiac failure, infantile2May 20, 2020
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A2Sep 20, 2019
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1Oct 15, 2021
TARP syndrome1Jul 31, 2020
TCF12-related craniosynostosis1Jul 31, 2020
TET3-Related Disease3Mar 11, 2022
TREX1-Related Disorders1Oct 15, 2021
TUBA1A-associated tubulinopathy1Jul 31, 2020
TUBB3-Releated Disorders1Jul 31, 2020
Tay-Sachs disease2Jul 31, 2020
Teratoid tumor, atypical1Sep 20, 2019
Thrombophilia due to thrombin defect1Sep 20, 2019
Thyroid dyshormonogenesis 63Jul 31, 2020
Torsion dystonia 61Sep 20, 2019
Treacher Collins syndrome 31Sep 20, 2019
Trichorhinophalangeal dysplasia type I1Sep 20, 2019
Tuberous sclerosis 21Sep 20, 2019
UDPglucose-4-epimerase deficiency2Aug 5, 2020
Ullrich congenital muscular dystrophy 21Sep 20, 2019
Vanishing white matter disease2Jul 31, 2020
Very long chain acyl-CoA dehydrogenase deficiency1Jul 31, 2020
Vici syndrome2Jul 31, 2020
Visceral heterotaxy2Sep 20, 2019
Visceral heterotaxy 5, autosomal1Jul 31, 2020
Visceral myopathy2Apr 29, 2020
Warfarin response1Sep 20, 2019
X-linked agammaglobulinemia1Sep 26, 2018
X-linked central congenital hypothyroidism with late-onset testicular enlargement1Oct 15, 2021
X-linked intellectual disability, Cantagrel type1Oct 15, 2021
beta Thalassemia1Jul 31, 2020
intellectual developmental disorder-50 with behavioral abnormalities (MRD50)1Oct 14, 2021
not provided4Aug 6, 2020
not specified1Oct 14, 2021
von Willebrand disease type 21Sep 20, 2019
von Willebrand disorder1Aug 5, 2020
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