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: 411

Gene

GeneSubmissionsLast Updated
ABCA32Jul 31, 2020
ABCC22Sep 20, 2019
ABCC84Aug 5, 2020
ACADVL1Jul 31, 2020
ACTA12Sep 20, 2019
ACTA21Jul 31, 2020
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
AMT2Jul 31, 2020
ANTXR22Jul 31, 2020
APOB2Jul 31, 2020
ARID1A2Jul 31, 2020
ARID1B1Jul 26, 2017
ARID21Jul 31, 2020
ASL1Sep 20, 2019
ASNS1Jul 31, 2020
ASPA1Sep 20, 2019
ASPM1Jul 31, 2020
ATAD3A1Sep 20, 2019
ATM2Jul 31, 2020
ATP1A34Jul 31, 2020
ATP7A1Jul 31, 2020
ATRX1Sep 20, 2019
B9D11Jul 31, 2020
BBS11Sep 20, 2019
BBS102Jul 31, 2020
BBS22Jul 31, 2020
BCKDHA1Sep 20, 2019
BCKDHB1Sep 20, 2019
BPTF1Jul 31, 2020
BRAT13Jul 31, 2020
BRCA12Sep 20, 2019
BRCA22Sep 20, 2019
BRD41Aug 5, 2020
BRIP11Sep 20, 2019
BTK1Sep 26, 2018
C11orf651Jul 31, 2020
C17orf1071Sep 20, 2019
C1GALT1C11Sep 20, 2019
CACNA1A2Sep 20, 2019
CACNA1C1Sep 20, 2019
CACNA1S1Jul 31, 2020
CARD112Sep 20, 2019
CASR1Sep 20, 2019
CD362Sep 20, 2019
CEP412Sep 20, 2019
CHD21Jul 31, 2020
CHD77Jul 31, 2020
CHEK21Jul 31, 2020
CHRNE1Sep 20, 2019
CHRNG2Sep 20, 2019
CIC1Jul 31, 2020
CLASP12Sep 20, 2019
CNTNAP12Sep 20, 2019
COL12A11Sep 20, 2019
COL2A14Jul 31, 2020
COL7A11Jul 31, 2020
COMP4Sep 20, 2019
CPLANE12Jul 31, 2020
CREBBP1Jul 31, 2020
CTCF1Jul 31, 2020
CTNNB11Aug 5, 2020
CUL72Jul 31, 2020
CWF19L12Aug 5, 2020
CZ1P-ASNS1Jul 31, 2020
DCLRE1C1Jul 31, 2020
DICER11Aug 29, 2019
DIPK1A1Sep 20, 2019
DSP2Jul 31, 2020
DUOX23Jul 31, 2020
DUSP291Jul 31, 2020
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
FLNC2Jul 31, 2020
FLNC-AS11Sep 20, 2019
FLT41Sep 20, 2019
FOXC11Sep 20, 2019
FOXC21Sep 20, 2019
FOXF11Sep 20, 2019
FOXP32Jul 31, 2020
G6PC32Sep 20, 2019
G6PD3Jul 31, 2020
GABRA11Apr 4, 2017
GALC1Jul 31, 2020
GALE2Aug 5, 2020
GBA1Sep 20, 2019
GBE11Sep 20, 2019
GH-LCR1Jul 31, 2020
GJB11Sep 20, 2019
GJB21Sep 20, 2019
GJD2-DT1Sep 20, 2019
GMPPB1Jul 31, 2020
GNAS1Dec 20, 2017
GNPTAB1Sep 20, 2019
GREB1L1Sep 20, 2019
HBB4Jul 31, 2020
HDAC81Jul 31, 2020
HEXA2Jul 31, 2020
HLCS2Sep 20, 2019
HRAS1Sep 20, 2019
HSD17B41Aug 4, 2020
HYLS11Sep 20, 2019
IDH11Sep 20, 2019
IGHMBP24Jul 31, 2020
IKZF11Oct 15, 2019
IL2RG2Sep 20, 2019
IL7R2Sep 20, 2019
INS1Apr 22, 2019
INS-IGF21Apr 22, 2019
IRAK11Aug 5, 2020
IRF2BPL1Sep 20, 2019
KARS11Jul 31, 2020
KAT6A1Sep 20, 2019
KAT6B2Jul 31, 2020
KCNC11Sep 20, 2019
KCNQ11Sep 20, 2019
KCNQ26Jul 31, 2020
KCNQ31Sep 20, 2019
KCNT11Jul 31, 2020
KCTD11Jul 31, 2020
KDM6A2Sep 20, 2019
KMT2B1Sep 20, 2019
KMT2D4Jul 31, 2020
KMT2E1Jul 31, 2020
KMT5B1Jul 31, 2020
LDLR4Jul 31, 2020
LMNA1Jul 31, 2020
LOC1027240583Aug 5, 2020
LOC1060990624Jul 31, 2020
LOC1066279811Sep 20, 2019
LOC1071335104Jul 31, 2020
LOC1080218462Jul 31, 2020
LOC1100112161Jul 31, 2020
LRRC561Sep 20, 2019
LZTR12Sep 20, 2019
MAGEL21Sep 20, 2019
MC2R1Sep 20, 2019
MEA12Jul 31, 2020
MECP22Jul 31, 2020
MIF4GD-DT1Sep 20, 2019
MIPEP2Jul 31, 2020
MMUT2Sep 20, 2019
MOCS12Sep 20, 2019
MPV172Jul 31, 2020
MTM11Jul 31, 2020
MTR1Sep 20, 2019
MYBPC33Jul 31, 2020
MYH74Jul 31, 2020
MYLK1Sep 20, 2019
MYO5B2Jul 31, 2020
MYRF1Jul 31, 2020
NALCN1Sep 20, 2019
NAXD1Jul 31, 2020
NAXE1Jul 31, 2020
NDUFA11Aug 5, 2020
NDUFS31Sep 20, 2019
NDUFV12Sep 20, 2019
NEB7Jul 31, 2020
NF11Sep 20, 2019
NFIX1Sep 20, 2019
NIPBL1Sep 20, 2019
NODAL3Jul 31, 2020
NOTCH11Sep 20, 2019
NPC15Jul 31, 2020
NPRL22Jul 31, 2020
NSD11Sep 20, 2019
OPA11Sep 20, 2019
OTC2Jul 31, 2020
PAX61Sep 20, 2019
PDHA12Jul 31, 2020
PEPD2Jul 31, 2020
PEX11Sep 20, 2019
PEX121Sep 20, 2019
PEX62Jul 31, 2020
PGM11Sep 20, 2019
PHOX2B2Jul 31, 2020
PIEZO11Sep 20, 2019
PKD11Jul 31, 2020
PLA2G62Sep 20, 2019
PLPBP2Jul 31, 2020
PMM22Sep 20, 2019
PMS21Sep 20, 2019
POLR1C1Sep 20, 2019
PORCN1Sep 20, 2019
PPA22May 20, 2020
PPP2R1A1Jul 31, 2020
PPP2R5D2Jul 31, 2020
PTCH11Jul 31, 2020
PTPN113Jul 31, 2020
PUM11Jul 31, 2020
PURA1Sep 20, 2019
PUS31Sep 20, 2019
PYGM2Sep 20, 2019
QARS11Jul 31, 2020
RAF11Jul 31, 2020
RBM101Jul 31, 2020
RELA1Sep 20, 2019
RET2Sep 20, 2019
RIF12Sep 20, 2019
RNU4ATAC2Sep 20, 2019
RPL51Sep 20, 2019
RYR15Sep 20, 2019
SBDS1Sep 20, 2019
SCARB11Sep 20, 2019
SCN1A3Aug 5, 2020
SCN2A1Sep 20, 2019
SCN4A1Jul 31, 2020
SCN5A3Sep 20, 2019
SCYL11Sep 20, 2019
SDHA4Jul 31, 2020
SERPINA11Sep 20, 2019
SETD1B1Sep 20, 2019
SETD22Jul 31, 2020
SHOC21Sep 20, 2019
SI2Jul 31, 2020
SKI1Sep 20, 2019
SLC25A151Jul 31, 2020
SLC25A192Sep 20, 2019
SLC26A21Sep 20, 2019
SLC27A42Jul 31, 2020
SLC2A11Jul 31, 2020
SLC35A21Jul 31, 2020
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
SYNGAP11Sep 20, 2019
TAFAZZIN1Sep 20, 2019
TANGO21Sep 20, 2019
TBCD2Sep 20, 2019
TCF121Jul 31, 2020
TGFBR11Sep 20, 2019
TH2Sep 20, 2019
THAP11Sep 20, 2019
TLK21Jul 31, 2020
TMEM2372Sep 20, 2019
TPM21Sep 20, 2019
TREX11Sep 20, 2019
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
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
ACTH resistance1Sep 20, 2019
ACTN2-related disorders1Jul 31, 2020
ALG12-congenital disorder of glycosylation1Jul 31, 2020
ATP1A3-Related Disorders1Jul 31, 2020
ATTRV122I amyloidosis1Sep 20, 2019
Acute neuronopathic Gaucher's disease1Sep 20, 2019
Aicardi Goutieres syndrome 11Sep 20, 2019
Alpha thalassemia-X-linked intellectual disability syndrome1Sep 20, 2019
Alpha-1-antitrypsin deficiency1Sep 20, 2019
Alstrom syndrome2Sep 20, 2019
Alternating hemiplegia of childhood 23Sep 20, 2019
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 82Jul 31, 2020
Asparagine synthetase deficiency1Jul 31, 2020
Ataxia-telangiectasia syndrome1Sep 20, 2019
Autoimmune lymphoproliferative syndrome1Sep 20, 2019
Autosomal dominant KAT6B-related disorders2Jul 31, 2020
Autosomal recessive multiple pterygium syndrome2Sep 20, 2019
Axenfeld-Rieger syndrome type 31Sep 20, 2019
BRAT1-associated neurodegenerative disorder1Jul 31, 2020
Bardet-Biedl syndrome 11Sep 20, 2019
Bardet-Biedl syndrome 102Jul 31, 2020
Bardet-Biedl syndrome 22Jul 31, 2020
Benign familial neonatal seizures 21Sep 20, 2019
Bifunctional peroxisomal enzyme deficiency1Aug 4, 2020
Bleeding disorder, platelet-type, 211Jul 31, 2020
Breast and colorectal cancer, susceptibility to1Jul 31, 2020
Breast cancer, susceptibility to1Jul 31, 2020
Breast-ovarian cancer, familial 12Sep 20, 2019
Brugada syndrome 13Sep 20, 2019
CACNA1C-Related Disorders1Sep 20, 2019
CHARGE association7Jul 31, 2020
COL2A1-related skeletal dysplasia2Jul 31, 2020
Campomelic dysplasia with autosomal sex reversal2Sep 20, 2019
Camptomelic dysplasia1Jul 31, 2020
Cardiac-urogenital syndrome1Jul 31, 2020
Cardiomyopathy5Jul 31, 2020
Central core disease, autosomal recessive2Sep 20, 2019
Central core myopathy1Sep 20, 2019
Charcot-Marie-Tooth Neuropathy X Type 11Sep 20, 2019
Cockayne syndrome B2Jul 31, 2020
Coffin-Siris syndrome 11Jul 26, 2017
Coffin-Siris syndrome 61Jul 31, 2020
Combined immunodeficiency, X-linked2Sep 20, 2019
Combined oxidative phosphorylation deficiency 312Jul 31, 2020
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 disorder of glycosylation type 1t1Sep 20, 2019
Congenital disorder of glycosylation, type Ia2Sep 20, 2019
Congenital microvillous atrophy2Jul 31, 2020
Cornelia de Lange1Aug 5, 2020
Cornelia de Lange syndrome 11Sep 20, 2019
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
Craniosynostosis 31Jul 31, 2020
Cutis laxa, autosomal recessive IIIA1Sep 20, 2019
DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA1Sep 20, 2019
Deafness, autosomal dominant 3a1Sep 20, 2019
Deletion syndrome1Feb 21, 2020
Diamond-Blackfan anemia 61Sep 20, 2019
Dilated cardiomyopathy 1A1Jul 31, 2020
Distal arthrogryposis type 2B1Sep 20, 2019
Distichiasis-lymphedema syndrome1Sep 20, 2019
Dubin-Johnson syndrome2Sep 20, 2019
Dursun syndrome2Sep 20, 2019
Dystonia2Sep 20, 2019
Dystonia 28, childhood-onset1Sep 20, 2019
EEF1A2-related disorders1Jul 31, 2020
ERCC2-related conditions1Jul 31, 2020
Early infantile epileptic encephalopathy 111Sep 20, 2019
Early infantile epileptic encephalopathy 73Jul 31, 2020
Ellis-van Creveld syndrome1Jul 31, 2020
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum2Sep 20, 2019
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy1Jul 31, 2020
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 21Jul 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, nocturnal frontal lobe, 51Jul 31, 2020
Epilepsy, progressive myoclonic 71Sep 20, 2019
Epileptic encephalopathy, childhood-onset1Jul 31, 2020
Epileptic encephalopathy, early infantile, 191Apr 4, 2017
Epileptic encephalopathy, early infantile, 421Sep 20, 2019
Episodic ataxia type 21Sep 20, 2019
FLNC-Related Disorders1Jul 31, 2020
Factor XIII, A subunit, deficiency of1Sep 14, 2018
Familial hypercholesterolemia3Jul 31, 2020
Familial hypercholesterolemia 11Sep 20, 2019
Familial hypercholesterolemia 21Jul 31, 2020
Familial hypertrophic cardiomyopathy 111Sep 20, 2019
Familial hypertrophic cardiomyopathy 43Jul 31, 2020
Fanconi anemia1Sep 20, 2019
Focal dermal hypoplasia1Sep 20, 2019
G6PD TOMAH1Sep 20, 2019
Galactosylceramide beta-galactosidase deficiency1Jul 31, 2020
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
Helsmoortel-Van der Aa Syndrome1Jul 31, 2020
Hemolytic anemia, G6PD deficient (favism)1Jul 31, 2020
Hereditary cancer-predisposing syndrome2Sep 20, 2019
Hereditary lymphedema type I1Sep 20, 2019
Hereditary nonpolyposis colorectal cancer type 41Sep 20, 2019
High density lipoprotein cholesterol level quantitative trait locus 61Sep 20, 2019
Hirschsprung disease1Sep 20, 2019
Hirschsprung disease 11Sep 20, 2019
Holocarboxylase synthetase deficiency2Sep 20, 2019
Hyaline fibromatosis syndrome2Jul 31, 2020
Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to1Sep 20, 2019
Hyperinsulinemic hypoglycemia, familial, 13Aug 5, 2020
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1Jul 31, 2020
Hypobetalipoproteinemia1Sep 20, 2019
Hypocalcemia, autosomal dominant 11Sep 20, 2019
Hypokalemic periodic paralysis 11Jul 31, 2020
Hypotonia, ataxia, and delayed development syndrome1Sep 20, 2019
Ichthyosis prematurity syndrome2Jul 31, 2020
Immunodeficiency 112Sep 20, 2019
Immunodeficiency, common variable, 131Oct 15, 2019
Infantile neuroaxonal dystrophy2Sep 20, 2019
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2Jul 31, 2020
Intellectual disability, autosomal dominant 451Jul 31, 2020
Intellectual disability, autosomal dominant 511Jul 31, 2020
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 Disorders2Jul 31, 2020
Kabuki syndrome 14Jul 31, 2020
Kabuki syndrome 22Sep 20, 2019
Lethal congenital contracture syndrome 72Sep 20, 2019
Leukoencephalopathy with vanishing white matter2Jul 31, 2020
Loeys-Dietz syndrome 11Sep 20, 2019
Long QT syndrome 11Sep 20, 2019
Lowry-Wood syndrome2Sep 20, 2019
Luscan-lumish syndrome1Sep 20, 2019
METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION1Sep 20, 2019
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
Mental retardation, autosomal dominant 142Jul 31, 2020
Mental retardation, autosomal dominant 191Aug 5, 2020
Mental retardation, autosomal dominant 211Jul 31, 2020
Mental retardation, autosomal dominant 321Sep 20, 2019
Mental retardation, autosomal dominant 352Jul 31, 2020
Mental retardation, autosomal dominant 361Jul 31, 2020
Mental retardation, autosomal dominant 51Sep 20, 2019
Mental retardation, autosomal recessive 551Sep 20, 2019
Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria1Sep 20, 2019
Methylcobalamin deficiency type cblG1Sep 20, 2019
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2Sep 20, 2019
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1Jul 31, 2020
Mitochondrial complex 1 deficiency, nuclear type 121Aug 5, 2020
Mitochondrial complex I deficiency3Sep 20, 2019
Mitochondrial complex II deficiency2Sep 20, 2019
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency2Sep 20, 2019
Molybdenum cofactor deficiency, complementation group A2Sep 20, 2019
Mowat-Wilson syndrome2Sep 20, 2019
Mucocutaneous ulceration1Sep 20, 2019
Muenke syndrome1Sep 20, 2019
Multiminicore Disease1Sep 20, 2019
Multiple epiphyseal dysplasia 14Sep 20, 2019
Multiple epiphyseal dysplasia type 41Sep 20, 2019
Multiple fibrofolliculomas1Jul 31, 2020
Multisystemic smooth muscle dysfunction syndrome1Jul 31, 2020
Muscular dystrophy-dystroglycanopathy1Jul 31, 2020
Myasthenic syndrome, congenital, 181Jul 31, 2020
Myasthenic syndrome, congenital, 4b, fast-channel1Sep 20, 2019
Myopathy, early-onset, with fatal cardiomyopathy2Jul 31, 2020
Navajo neurohepatopathy2Jul 31, 2020
Nemaline myopathy 27Jul 31, 2020
Nemaline myopathy 32Sep 20, 2019
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
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 21Sep 20, 2019
Noonan syndrome 51Jul 31, 2020
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 deficiency2Jul 31, 2020
Ovarian Cancers1Sep 20, 2019
PEX6-Related Disorders2Jul 31, 2020
PTPN11 Related Disorders2Jul 31, 2020
PURA Syndrome1Sep 20, 2019
Paragangliomas 51Sep 20, 2019
Permanent neonatal diabetes mellitus1Apr 22, 2019
Peroxisome biogenesis disorder 1B1Sep 20, 2019
Peroxisome biogenesis disorder 3A1Sep 20, 2019
Persistent pulmonary hypertension of the newborn1Sep 20, 2019
Platelet glycoprotein IV deficiency2Sep 20, 2019
Polyagglutinable erythrocyte syndrome1Sep 20, 2019
Polycystic kidney disease, adult type1Jul 31, 2020
Polyglandular autoimmune syndrome, type 12Oct 31, 2017
Polymicrogyria, asymmetric1Sep 20, 2019
Primary autosomal recessive microcephaly 51Jul 31, 2020
Primary familial hypertrophic cardiomyopathy1Sep 20, 2019
Prolidase deficiency2Jul 31, 2020
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
Recessive dystrophic epidermolysis bullosa1Jul 31, 2020
Renal hypodysplasia/aplasia 31Sep 20, 2019
Rett syndrome1Jul 31, 2020
Rigidity and multifocal seizure syndrome, lethal neonatal2Sep 20, 2019
Rubinstein-Taybi syndrome 11Jul 31, 2020
SCN1A Seizure Disorders1Jul 31, 2020
SCN4A-Related Disorders1Jul 31, 2020
SDHA-Related Disorders1Jul 31, 2020
SETD2-related disorder1Jul 31, 2020
SLC2A1-Related Disorders1Jul 31, 2020
SLC35A2-CDG1Jul 31, 2020
SPTA1-related disorders1Jul 31, 2020
Scalp-ear-nipple syndrome1Jul 31, 2020
Schaaf-Yang syndrome1Sep 20, 2019
Severe X-linked myotubular myopathy1Jul 31, 2020
Severe combined immunodeficiency disease1Jul 31, 2020
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive2Sep 20, 2019
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
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1Sep 20, 2019
Sotos syndrome 11Sep 20, 2019
Spherocytosis type 21Sep 20, 2019
Sphingomyelin/cholesterol lipidosis2Jul 31, 2020
Spinal muscular atrophy2Jul 31, 2020
Spinal muscular atrophy, distal, autosomal recessive, 12Sep 20, 2019
Spinocerebellar ataxia 471Jul 31, 2020
Spinocerebellar ataxia, autosomal recessive 172Aug 5, 2020
Spinocerebellar ataxia, autosomal recessive 211Sep 20, 2019
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
Surfactant metabolism dysfunction, pulmonary, 32Jul 31, 2020
TARP syndrome1Jul 31, 2020
TUBA1A-associated tubulinopathy1Jul 31, 2020
TUBB3-Releated Disorders1Jul 31, 2020
Tay-Sachs disease2Jul 31, 2020
Teratoid tumor, atypical1Sep 20, 2019
Three M syndrome 12Jul 31, 2020
Thrombophilia due to thrombin defect1Sep 20, 2019
Thyroid dyshormonogenesis 63Jul 31, 2020
Torsion dystonia 61Sep 20, 2019
Transient neonatal diabetes mellitus 21Sep 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
Very long chain acyl-CoA dehydrogenase deficiency1Jul 31, 2020
Vici syndrome2Jul 31, 2020
Visceral heterotaxy 5, autosomal1Jul 31, 2020
Visceral myopathy2Apr 29, 2020
Warfarin response1Sep 20, 2019
X-linked agammaglobulinemia1Sep 26, 2018
beta Thalassemia1Jul 31, 2020
congenital heart defect1Sep 20, 2019
heterotaxia syndrome2Sep 20, 2019
not provided4Aug 6, 2020
von Willebrand disease type 21Sep 20, 2019
von Willebrand disorder1Aug 5, 2020
Support Center