Johns Hopkins Genomics (Johns Hopkins University), JHG

General information

Johns Hopkins Genomics, JHG
Johns Hopkins University
1812 Ashland Ave, Suite 200
Baltimore
Maryland
United States - 21205
http://jhgenomics.jhmi.edu/
Organization ID: 506823

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 658

Gene

GeneSubmissionsLast Updated
ABCA348Feb 3, 2021
ABCA42May 28, 2020
ABCD130Feb 3, 2021
ACD2Jan 14, 2021
ACTG21Jan 14, 2021
ADA2May 28, 2020
ADA23Jan 14, 2021
ADAR1Aug 4, 2020
AIRE1Sep 2, 2020
ALMS11Jan 14, 2021
ALPL2Jan 14, 2021
ANKLE21Mar 6, 2020
ANLN1Aug 30, 2019
AP3B14May 8, 2019
APC1Nov 3, 2020
ASPM1Feb 3, 2021
ATRIP1Jul 31, 2019
ATRIP-TREX11Jul 31, 2019
AUTS22Feb 3, 2021
AVPR21Oct 13, 2020
BBS51May 28, 2020
BICC12Jan 14, 2021
BMPR21Nov 3, 2020
BPTF1Jul 31, 2019
BRCA11Jan 14, 2021
BRCA22Jan 14, 2021
C12orf42Aug 4, 2020
CA121Nov 14, 2019
CACNA1A1Oct 13, 2020
CACNA1G1Aug 4, 2020
CACNA1S1Nov 3, 2020
CC2D2A1May 28, 2020
CCDC392Feb 3, 2021
CD461May 28, 2020
CDH151Dec 5, 2019
CERS11Aug 4, 2020
CFTR157Feb 3, 2021
CFTR-AS118Feb 3, 2021
CHD21Nov 14, 2019
CHRNE1Mar 6, 2020
CLCN51May 28, 2020
COL10A11Aug 30, 2019
COL11A11Jan 14, 2021
COL1A13Nov 3, 2020
COL1A21May 28, 2020
COL2A12Nov 3, 2020
COL3A12Jan 14, 2021
COL4A11Oct 13, 2020
COL4A21Aug 4, 2020
COL4A32May 28, 2020
COL4A51May 28, 2020
COL9A31Nov 3, 2020
COPA1Mar 6, 2020
CPLANE12Nov 3, 2020
CR21Mar 6, 2020
CSF2RA3May 8, 2019
CSF2RB3Jun 7, 2019
CSNK2A11May 28, 2020
CTC15Jan 14, 2021
DDX412Oct 13, 2020
DHCR71May 28, 2020
DIPK1A1Dec 1, 2020
DKC12Apr 1, 2019
DNAAF61Feb 3, 2021
DNAH113Nov 3, 2020
DNAH53May 28, 2020
DNAH84Feb 3, 2021
DNAH8-AS11Feb 3, 2021
DNAJB131Jul 31, 2019
DSP1Oct 13, 2020
DTNA1May 28, 2020
DYNC2H13Jan 14, 2021
DYSF2Aug 4, 2020
ELANE2Oct 13, 2020
ENG1Nov 14, 2019
ERF2Aug 4, 2020
ETV61Jan 14, 2021
EYA11May 8, 2019
FANCE1Sep 2, 2020
FAT21May 28, 2020
FBN15Jan 14, 2021
FBXO111Aug 4, 2020
FGA2Mar 6, 2020
FGFR23Aug 4, 2020
FGFR31May 8, 2019
FIG41Aug 4, 2020
FLCN1Nov 14, 2019
FLG4Nov 3, 2020
FLI11Dec 1, 2020
FLNA3Jan 14, 2021
FLNB2Nov 3, 2020
FN13Dec 1, 2020
FOXF110Feb 3, 2021
FREM23Nov 3, 2020
GAA2May 28, 2020
GABRD1Oct 13, 2020
GALK11May 28, 2020
GATA23Feb 3, 2021
GATA31Aug 4, 2020
GATA51Sep 2, 2020
GATAD2B1Nov 14, 2019
GBA2Nov 3, 2020
GDF11Aug 4, 2020
GJB21Oct 13, 2020
GLI22Oct 13, 2020
GNAS10Oct 13, 2020
GPNMB1Nov 3, 2020
GTPBP32Aug 30, 2019
HMBS1Nov 14, 2019
HPS12Mar 5, 2019
HPS42Jun 7, 2019
HTRA11May 28, 2020
HYDIN1Jul 31, 2019
IDUA2May 28, 2020
IKZF11Aug 4, 2020
INAVA1Aug 4, 2020
INSL61May 28, 2020
IQCE1Aug 4, 2020
ITGB43Oct 13, 2020
JAK21May 28, 2020
KCNJ12Oct 13, 2020
KCNQ11May 28, 2020
KDM5B2Dec 5, 2019
KDM5C1Nov 14, 2019
KIAA05861May 28, 2020
KMT2C1Mar 6, 2020
KMT2D3May 28, 2020
LBR1Aug 30, 2019
LMNA1May 28, 2020
LMX1B1May 28, 2020
LOC1066279812Nov 3, 2020
LOC1067808031May 8, 2019
LOC1073033402May 28, 2020
LOC1108062631Aug 4, 2020
LOC1108063061Mar 5, 2019
LOC1116744631May 28, 2020
LOC11167447218Nov 3, 2020
LOC1116744754Mar 6, 2020
LOC1116744773Mar 6, 2020
LOC1136641062Mar 6, 2020
LRBA1Jan 14, 2021
LRP21Feb 3, 2021
LRP52Nov 3, 2020
LYST1Sep 2, 2020
MAP3K71Jan 14, 2021
MARS12Aug 4, 2020
MECP21Aug 4, 2020
MED131Feb 3, 2021
MEFV1Jan 14, 2021
MEN11May 28, 2020
MFF-DT2May 28, 2020
MSH31Aug 4, 2020
MSH61May 28, 2020
MTMR141Mar 5, 2019
MYH31May 28, 2020
MYH71May 28, 2020
MYH92Jan 14, 2021
MYO3A1May 28, 2020
MYO5B1May 28, 2020
NDUFB111Jul 31, 2019
NF14Dec 1, 2020
NFIX1May 28, 2020
NFKB21May 28, 2020
NKX2-17Mar 6, 2020
NKX2-1-AS11May 8, 2019
NOTCH11Sep 2, 2020
NPHP11Oct 13, 2020
NPHP32Aug 30, 2019
NPHP3-ACAD112Aug 30, 2019
NR3C21Mar 6, 2020
NRIP12Jan 14, 2021
NSD12May 28, 2020
NT5DC11Aug 30, 2019
ODAD11Jul 31, 2019
ODAD31Oct 13, 2020
OFD11Jan 14, 2021
PALB21Dec 1, 2020
PARN3Dec 1, 2020
PEX12May 8, 2019
PEX64May 28, 2020
PIBF12Feb 3, 2021
PKD18Oct 13, 2020
PKHD11May 28, 2020
PKLR1Dec 5, 2019
PKP21Jul 31, 2019
PLA2G62May 28, 2020
PLOD22Oct 13, 2020
PMM21May 28, 2020
POLG1May 8, 2019
PPP1R12A3Oct 13, 2020
PRKAR1A1Jan 14, 2021
PRKCH1Aug 4, 2020
PSEN11May 28, 2020
PTEN1May 8, 2019
PXDN1Aug 4, 2020
RASA11Jan 14, 2021
RBM201May 28, 2020
RFWD31May 28, 2020
RPL101Aug 4, 2020
RPL51Dec 1, 2020
RPS192Sep 2, 2020
RPS261Aug 30, 2019
RSPH91Oct 13, 2020
RTEL18Nov 3, 2020
RTEL1-TNFRSF6B8Nov 3, 2020
RUNX12Sep 2, 2020
RYR11May 28, 2020
RYR21Aug 4, 2020
SALL12May 28, 2020
SAMD91Oct 13, 2020
SAMD9L3May 28, 2020
SCN2A1Dec 1, 2020
SCN5A1May 28, 2020
SCNN1A2Jul 31, 2019
SCNN1B6Feb 3, 2021
SCNN1G2Mar 6, 2020
SETD1A1May 28, 2020
SFTA35Mar 6, 2020
SFTPA11Jul 31, 2019
SFTPA21Jan 31, 2019
SFTPB7Sep 2, 2020
SFTPC8May 28, 2020
SH2B31Jan 14, 2021
SHANK31Feb 3, 2021
SKIV2L2May 8, 2019
SLC1A41Dec 1, 2020
SLC2A11Sep 2, 2020
SLC34A11Nov 3, 2020
SLC36A11May 28, 2020
SLC5A21Jan 14, 2021
SOS11Feb 3, 2021
STAG11Dec 5, 2019
STAT31Aug 4, 2020
STX111Dec 5, 2019
SUOX1Mar 6, 2020
SYN11Mar 6, 2020
SYNE12Nov 3, 2020
TCF201Mar 6, 2020
TCOF15Sep 2, 2020
TCTN21Jan 14, 2021
TERC2Nov 3, 2020
TERT9Aug 4, 2020
TINF21Aug 4, 2020
TNFRSF11B1Nov 14, 2019
TNNT21May 28, 2020
TNXB1May 8, 2019
TP532Sep 2, 2020
TREX11Jul 31, 2019
TRPV61Mar 6, 2020
TRRAP1May 28, 2020
TSC24Jan 14, 2021
TTC141Feb 3, 2021
TTC21B1Jan 14, 2021
TTN3May 28, 2020
TTN-AS12May 28, 2020
TUBA1A1Jul 31, 2019
TWIST11May 28, 2020
UMOD1Feb 3, 2021
VHL3May 28, 2020
VWF2Sep 2, 2020
WDPCP2Oct 13, 2020
WNK11Oct 13, 2020
WNK41Aug 30, 2019
WNT41Aug 4, 2020
WNT5A1Aug 4, 2020
WRAP532Mar 5, 2019
WT11May 28, 2020
ZCCHC81Mar 6, 2020
ZNF6872Aug 4, 2020

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome1Feb 3, 2021
Acrocephalosyndactyly type I1Apr 1, 2019
Acute intermittent porphyria1Nov 14, 2019
Acute myeloid leukemia2Sep 2, 2020
Acute neuronopathic Gaucher's disease1May 28, 2020
Adrenoleukodystrophy30Feb 3, 2021
Aicardi Goutieres syndrome 11Jul 31, 2019
Aicardi-Goutieres syndrome 61Aug 4, 2020
Alport syndrome 1, X-linked recessive1May 28, 2020
Alport syndrome 3, autosomal dominant2May 28, 2020
Alstrom syndrome1Jan 14, 2021
Alzheimer disease, type 31May 28, 2020
Amyloidosis, primary localized cutaneous, 31Nov 3, 2020
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1Oct 13, 2020
Anterior segment dysgenesis 71Aug 4, 2020
Aortic valve disorder1Sep 2, 2020
Arrhythmogenic right ventricular dysplasia 81Oct 13, 2020
Arrhythmogenic right ventricular dysplasia 91Jul 31, 2019
Arrhythmogenic right ventricular dysplasia, familial, 21Aug 4, 2020
Arthrogryposis, distal, type 2b31May 28, 2020
Ataxia-pancytopenia syndrome3May 28, 2020
Atypical hemolytic-uremic syndrome 21May 28, 2020
Autoimmune disease, multisystem, infantile-onset, 11Aug 4, 2020
Autoimmune interstitial lung, joint, and kidney disease1Mar 6, 2020
Autosomal dominant medullary cystic kidney disease with hyperuricemia1Feb 3, 2021
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11May 8, 2019
Autosomal dominant pseudohypoaldosteronism type 11Mar 6, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2B2Aug 4, 2020
Autosomal recessive polycystic kidney disease1May 28, 2020
Autosomal recessive pseudohypoaldosteronism type 13Nov 14, 2019
Bardet-Biedl syndrome 152Oct 13, 2020
Bardet-Biedl syndrome 51May 28, 2020
Bartter syndrome, type 2, antenatal2Oct 13, 2020
Benign hereditary chorea1Apr 1, 2019
Bleeding disorder, platelet-type, 211Dec 1, 2020
Branchiootic syndrome 11May 8, 2019
Breast-ovarian cancer, familial 11Jan 14, 2021
Breast-ovarian cancer, familial 22Jan 14, 2021
Bronchiectasis with or without elevated sweat chloride 31Mar 6, 2020
Bruck syndrome 22Oct 13, 2020
Brugada syndrome 11May 28, 2020
Capillary malformation-arteriovenous malformation 11Jan 14, 2021
Cardiospondylocarpofacial syndrome1Jan 14, 2021
Carney complex, type 11Jan 14, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21May 28, 2020
Cerebroretinal microangiopathy with calcifications and cysts 15Jan 14, 2021
Charcot-Marie-Tooth disease, type 4J1Aug 4, 2020
Childhood hypophosphatasia2Jan 14, 2021
Choreoathetosis, hypothyroidism, and neonatal respiratory distress7Mar 6, 2020
Chédiak-Higashi syndrome1Sep 2, 2020
Ciliary dyskinesia, primary, 121Oct 13, 2020
Ciliary dyskinesia, primary, 142Feb 3, 2021
Ciliary dyskinesia, primary, 201Jul 31, 2019
Ciliary dyskinesia, primary, 33May 28, 2020
Ciliary dyskinesia, primary, 301Oct 13, 2020
Ciliary dyskinesia, primary, 341Jul 31, 2019
Ciliary dyskinesia, primary, 36, X-linked1Feb 3, 2021
Ciliary dyskinesia, primary, 51Jul 31, 2019
Ciliary dyskinesia, primary, 73Nov 3, 2020
Combined oxidative phosphorylation deficiency 232Aug 30, 2019
Common variable immunodeficiency 101May 28, 2020
Common variable immunodeficiency 71Mar 6, 2020
Common variable immunodeficiency 8, with autoimmunity1Jan 14, 2021
Congenital anomalies of kidney and urinary tract 32Jan 14, 2021
Congenital disorder of glycosylation, type Ia1May 28, 2020
Congenital heart defects, multiple types, 51Sep 2, 2020
Congenital microvillous atrophy1May 28, 2020
Craniosynostosis 11May 28, 2020
Craniosynostosis 42Aug 4, 2020
Crouzon syndrome1Aug 4, 2020
Culler-Jones syndrome2Oct 13, 2020
Cystic fibrosis157Feb 3, 2021
Deafness, autosomal dominant 751May 28, 2020
Deafness, autosomal recessive 1A1Oct 13, 2020
Deafness, autosomal recessive 301May 28, 2020
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency2Dec 5, 2019
Dermatitis, atopic, 21Nov 3, 2020
Developmental delay with variable intellectual impairment and behavioral abnormalities1Mar 6, 2020
Diamond-Blackfan anemia 12Sep 2, 2020
Diamond-Blackfan anemia 101Aug 30, 2019
Diamond-Blackfan anemia 61Dec 1, 2020
Dilated cardiomyopathy 1A1May 28, 2020
Dilated cardiomyopathy 1DD1May 28, 2020
Donnai-Barrow syndrome1Feb 3, 2021
Drash syndrome1May 28, 2020
Dyskeratosis congenita, X-linked2Apr 1, 2019
Dyskeratosis congenita, autosomal dominant 62Jan 14, 2021
Dyskeratosis congenita, autosomal dominant, 27Aug 4, 2020
Dyskeratosis congenita, autosomal dominant, 31Aug 4, 2020
Dyskeratosis congenita, autosomal recessive, 32Mar 5, 2019
Ehlers-Danlos syndrome due to tenascin-X deficiency1May 8, 2019
Ehlers-Danlos syndrome, type 42Jan 14, 2021
Epidermolysis bullosa junctionalis with pyloric atresia3Oct 13, 2020
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1Mar 6, 2020
Epilepsy, early-onset, with or without developmental delay1May 28, 2020
Epilepsy, idiopathic generalized 101Oct 13, 2020
Epileptic encephalopathy, childhood-onset1Nov 14, 2019
Epiphyseal dysplasia, multiple, 31Nov 3, 2020
Episodic ataxia type 21Oct 13, 2020
Familial Mediterranean fever1Jan 14, 2021
Familial adenomatous polyposis 11Nov 3, 2020
Familial adenomatous polyposis 41Aug 4, 2020
Familial cancer of breast1Dec 1, 2020
Familial hemophagocytic lymphohistiocytosis 41Dec 5, 2019
Familial hypertrophic cardiomyopathy 11May 28, 2020
Familial hypertrophic cardiomyopathy 21May 28, 2020
Familial renal glucosuria1Jan 14, 2021
Familial restrictive cardiomyopathy 31May 28, 2020
Familial visceral amyloidosis, Ostertag type2Mar 6, 2020
Fanconi anemia, complementation group E1Sep 2, 2020
Fanconi anemia, complementation group W1May 28, 2020
Fanconi renotubular syndrome 21Nov 3, 2020
Focal segmental glomerulosclerosis 81Aug 30, 2019
Fraser syndrome 23Nov 3, 2020
Frasier syndrome1May 28, 2020
Freeman-Sheldon syndrome1May 28, 2020
GLUT1 deficiency syndrome 21Sep 2, 2020
Gaucher disease type 3C1May 28, 2020
Gaucher's disease, type 12Nov 3, 2020
Genitourinary and/or brain malformation syndrome3Oct 13, 2020
Glomerulopathy with fibronectin deposits 23Dec 1, 2020
Glycogen storage disease, type II2May 28, 2020
Hereditary hemorrhagic telangiectasia type 11Nov 14, 2019
Hereditary nonpolyposis colorectal cancer type 51May 28, 2020
Hermansky-Pudlak syndrome 12Mar 5, 2019
Hermansky-Pudlak syndrome 24May 8, 2019
Hermansky-Pudlak syndrome 42Jun 7, 2019
Holoprosencephaly 91May 28, 2020
Hurler syndrome2May 28, 2020
Hyperchlorhidrosis, isolated1Nov 14, 2019
Hyperparathyroidism, transient neonatal1Mar 6, 2020
Hyperphosphatasemia with bone disease1Nov 14, 2019
Hypokalemic periodic paralysis 11Nov 3, 2020
Hypoparathyroidism-deafness-renal disease syndrome1Aug 4, 2020
Ichthyosis vulgaris3Oct 13, 2020
Idiopathic Pulmonary Fibrosis1Jan 31, 2019
Immunodeficiency, common variable, 131Aug 4, 2020
Inflammatory bowel disease 291Aug 4, 2020
Intellectual developmental disorder 611Feb 3, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Aug 4, 2020
Intellectual disability, autosomal dominant 471Dec 5, 2019
Intellectual disability, autosomal recessive 652Dec 5, 2019
Interstitial lung and liver disease2Aug 4, 2020
Ischemic stroke1Aug 4, 2020
Isolated sulfite oxidase deficiency1Mar 6, 2020
Joubert syndrome 172Nov 3, 2020
Joubert syndrome 231May 28, 2020
Joubert syndrome 241Jan 14, 2021
Joubert syndrome 332Feb 3, 2021
Joubert syndrome 41Oct 13, 2020
Joubert syndrome 91May 28, 2020
Joubert syndrome with hepatic defect1May 28, 2020
Kabuki syndrome 13May 28, 2020
Kleefstra syndrome 21Mar 6, 2020
Left ventricular noncompaction 11May 28, 2020
Left ventricular noncompaction 61May 28, 2020
Li-Fraumeni syndrome 12Sep 2, 2020
Liddle syndrome 14May 28, 2020
Limb-girdle muscular dystrophy, type 2J3May 28, 2020
Lissencephaly 31Jul 31, 2019
Long QT syndrome 11May 28, 2020
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 351Aug 4, 2020
Macrocephaly/autism syndrome1May 8, 2019
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2Jan 14, 2021
Malignant hyperthermia, susceptibility to, 11May 28, 2020
Marfan syndrome5Jan 14, 2021
Marshall-Smith syndrome1May 28, 2020
Meckel syndrome type 61May 28, 2020
Meckel syndrome type 72Aug 30, 2019
Mental retardation, autosomal dominant 181Nov 14, 2019
Mental retardation, autosomal dominant 262Feb 3, 2021
Mental retardation, autosomal dominant 31Dec 5, 2019
Mental retardation, autosomal recessive 662Aug 4, 2020
Mental retardation, syndromic, Claes-Jensen type, X-linked1Nov 14, 2019
Metaphyseal chondrodysplasia, Schmid type1Aug 30, 2019
Microcephaly 16, primary, autosomal recessive1Mar 6, 2020
Mirage syndrome1Oct 13, 2020
Mitochondrial complex 1 deficiency, nuclear type 301Jul 31, 2019
Mullerian aplasia and hyperandrogenism1Aug 4, 2020
Multiple endocrine neoplasia, type 11May 28, 2020
Multiple fibrofolliculomas1Nov 14, 2019
Myasthenic syndrome, congenital, 4a, slow-channel1Mar 6, 2020
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to2Oct 13, 2020
Myopathy, centronuclear, 11Mar 5, 2019
Nail-patella syndrome1May 28, 2020
Nephrogenic diabetes insipidus, X-linked1Oct 13, 2020
Nephronophthisis 121Jan 14, 2021
Nephrotic syndrome, type 41May 28, 2020
Neurodegeneration with brain iron accumulation 2b2May 28, 2020
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Jul 31, 2019
Neurofibromatosis, type 14Dec 1, 2020
Neutropenia, severe congenital 1, autosomal dominant2Oct 13, 2020
Noonan syndrome 41Feb 3, 2021
Okur-chung neurodevelopmental syndrome1May 28, 2020
Osteogenesis imperfecta type I2Aug 4, 2020
Osteogenesis imperfecta type III1May 28, 2020
Osteogenesis imperfecta with normal sclerae, dominant form1May 28, 2020
Osteogenesis imperfecta, recessive perinatal lethal1Nov 3, 2020
Paget disease of bone 62Aug 4, 2020
Pelger-Huët anomaly1Aug 30, 2019
Peroxisome biogenesis disorder 1A (Zellweger)2May 8, 2019
Peroxisome biogenesis disorder 4a (zellweger)4May 28, 2020
Persistent fetal circulation syndrome10Feb 3, 2021
Pfeiffer syndrome1Aug 30, 2019
Polyarteritis nodosa, childhoood-onset3Jan 14, 2021
Polycystic kidney disease, adult type8Oct 13, 2020
Polycystic liver disease 4 with or without kidney cysts2Nov 3, 2020
Polydactyly, postaxial, type a71Aug 4, 2020
Polyglandular autoimmune syndrome, type 11Sep 2, 2020
Porencephaly 21Aug 4, 2020
Primary autosomal recessive microcephaly 51Feb 3, 2021
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1May 28, 2020
Pseudohypoaldosteronism type 2B1Aug 30, 2019
Pseudohypoaldosteronism type 2C1Oct 13, 2020
Pseudohypoparathyroidism8Oct 13, 2020
Pseudohypoparathyroidism type 1B1Jan 31, 2019
Pseudopseudohypoparathyroidism1Oct 13, 2020
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 12Nov 14, 2019
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 22Nov 3, 2020
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 38Nov 3, 2020
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 43Dec 1, 2020
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 51Mar 6, 2020
Pulmonary venoocclusive disease 1, autosomal dominant1Nov 3, 2020
Pyruvate kinase deficiency of red cells1Dec 5, 2019
Renal dysplasia, cystic, susceptibility to2Jan 14, 2021
Respiratory distress associated with prematurity1Jul 31, 2019
Rett syndrome1Aug 4, 2020
Robinow syndrome, autosomal dominant 11Aug 4, 2020
Saethre-Chotzen syndrome1May 28, 2020
Seizures, benign familial infantile, 31Dec 1, 2020
Severe combined immunodeficiency due to ADA deficiency2May 28, 2020
Short-rib thoracic dysplasia 14 with polydactyly1May 28, 2020
Short-rib thoracic dysplasia 3 with or without polydactyly3Jan 14, 2021
Simpson-Golabi-Behmel syndrome, type 21Jan 14, 2021
Smith-Lemli-Opitz syndrome1May 28, 2020
Sotos syndrome 12May 28, 2020
Sotos syndrome 21May 28, 2020
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly1Dec 1, 2020
Spermatogenic failure 464Feb 3, 2021
Spinocerebellar ataxia 421Aug 4, 2020
Spinocerebellar ataxia 451May 28, 2020
Spinocerebellar ataxia, autosomal recessive 82Nov 3, 2020
Spondylocarpotarsal synostosis syndrome2Nov 3, 2020
Spondyloepiphyseal dysplasia congenita1Aug 4, 2020
Stargardt disease 12May 28, 2020
Stickler syndrome type 11Nov 3, 2020
Stickler syndrome type 21Jan 14, 2021
Subacute neuronopathic Gaucher's disease1May 28, 2020
Surfactant metabolism dysfunction, pulmonary, 17Sep 2, 2020
Surfactant metabolism dysfunction, pulmonary, 28May 28, 2020
Surfactant metabolism dysfunction, pulmonary, 348Feb 3, 2021
Surfactant metabolism dysfunction, pulmonary, 43May 8, 2019
Surfactant metabolism dysfunction, pulmonary, 53Jun 7, 2019
Thanatophoric dysplasia type 11May 8, 2019
Thrombocythemia 31May 28, 2020
Thrombocytopenia 51Jan 14, 2021
Townes-Brocks syndrome 12May 28, 2020
Transposition of the great arteries, dextro-looped 31Aug 4, 2020
Treacher Collins syndrome 15Sep 2, 2020
Trichohepatoenteric syndrome 22May 8, 2019
Tuberous sclerosis 24Jan 14, 2021
Visceral myopathy1Jan 14, 2021
Von Hippel-Lindau syndrome3May 28, 2020
Wilms tumor 11May 28, 2020
not provided7Feb 3, 2021
von Willebrand disease type 22Sep 2, 2020
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