Counsyl

General information

Counsyl

180 Kimball Way
South San Francisco
California
United States - 94080
http://www.counsyl.com/
Organization ID: 320494

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 20976

Gene

GeneSubmissionsLast Updated
ABCC8172Aug 5, 2019
ABCD12Aug 5, 2019
ACADM96Aug 5, 2019
ACADS71Aug 5, 2019
ACADVL195Aug 5, 2019
ADA47Aug 5, 2019
ADAMTS26Jul 10, 2018
AGA33Aug 5, 2019
AGL129Aug 5, 2019
AGXT59Jul 10, 2018
AIRE66Aug 5, 2019
ALDH3A255Aug 5, 2019
ALDOB40Aug 5, 2019
ALG639Aug 5, 2019
ALMS1688Aug 5, 2019
ALPL94Aug 5, 2019
AMT46Aug 5, 2019
AOPEP55Aug 5, 2019
APBB12Aug 5, 2019
APC309Jun 20, 2018
ARFRP12Jul 10, 2018
ARG134Aug 5, 2019
ARSA97Aug 5, 2019
ASL64Jul 10, 2018
ASNS1Nov 23, 2016
ASPA54Aug 5, 2019
ASS168Aug 5, 2019
ATM482Jul 10, 2018
ATP6V1B116Jul 10, 2018
ATP6V1B1-AS11Jul 10, 2018
ATP7B273Aug 5, 2019
AXDND122Aug 5, 2019
BARD160Jun 20, 2018
BBS158Aug 5, 2019
BBS1085Aug 5, 2019
BBS1255Aug 5, 2019
BBS265Aug 5, 2019
BCHE58Jul 10, 2018
BCKDHA42Aug 5, 2019
BCKDHB61Aug 5, 2019
BCS1L46Aug 5, 2019
BLM128Aug 5, 2019
BMPR1A36Jun 20, 2018
BRCA1583Jun 20, 2018
BRCA2927Jun 20, 2018
BRIP1275Jun 20, 2018
BTD119Aug 5, 2019
C11orf65177Jul 10, 2018
CAPN3172Aug 5, 2019
CBS88Aug 5, 2019
CDH1146Jun 20, 2018
CDK414Jun 20, 2018
CDKL511Aug 5, 2019
CDKN2A56Jun 20, 2018
CERKL3Jul 10, 2018
CFTR464Aug 5, 2019
CFTR-AS136Aug 5, 2019
CHEK2165Jun 20, 2018
CHM2Nov 23, 2016
CHPT14Jul 10, 2018
CLN340Aug 5, 2019
CLN542Aug 5, 2019
CLN636Aug 5, 2019
CLN828Aug 5, 2019
CLRN133Jul 10, 2018
CLRN1-AS14Jul 10, 2018
CNGB343Jul 10, 2018
COL4A394Aug 5, 2019
COL4A4106Aug 5, 2019
COL4A53Aug 5, 2019
CPS184Jul 10, 2018
CPT1A39Aug 5, 2019
CPT2107Aug 5, 2019
CTNS58Aug 5, 2019
CTSK36Jul 10, 2018
CYBA1Jul 10, 2018
CYP11B154Aug 5, 2019
CYP21A28Mar 11, 2015
CYP27A160Aug 5, 2019
CZ1P-ASNS1Nov 23, 2016
DBT34Aug 5, 2019
DHCR7101Aug 5, 2019
DLD25Aug 5, 2019
DLG418Jul 10, 2018
DMD15Aug 5, 2019
DNAH548Jul 10, 2018
DNAI115Jul 10, 2018
DNAI27Jul 10, 2018
DPYD79Jul 10, 2018
DPYD-AS119Jul 10, 2018
DYSF179Aug 5, 2019
ELP172Aug 5, 2019
EPCAM2Jun 20, 2018
ERCC687Aug 5, 2019
ERCC6-PGBD330Aug 5, 2019
ERCC837Aug 5, 2019
ERCC8-AS14Aug 5, 2019
EVC80Aug 5, 2019
EVC274Aug 5, 2019
EYS53Jul 10, 2018
F1195Jul 10, 2018
F11-AS118Jul 10, 2018
F21Jun 22, 2017
FAH53Aug 5, 2019
FAM161A7Jul 10, 2018
FANCA198Aug 5, 2019
FANCC82Aug 5, 2019
FBXL327Aug 5, 2019
FKRP63Aug 5, 2019
FKTN33Aug 5, 2019
FNDC81Nov 23, 2016
G6PC146Aug 5, 2019
G6PD5Jun 22, 2017
GAA201Aug 5, 2019
GALC126Aug 5, 2019
GALE1Nov 23, 2016
GALK135Jul 10, 2018
GALT102Aug 5, 2019
GAREM235Aug 5, 2019
GATAD146Aug 5, 2019
GBA1Nov 23, 2016
GBE19Jul 10, 2018
GCDH101Aug 5, 2019
GFM23Jul 30, 2018
GJB11Mar 11, 2015
GJB2138Aug 5, 2019
GJB61Nov 23, 2016
GLA3Aug 5, 2019
GLB1104Aug 5, 2019
GLDC100Aug 5, 2019
GML9Aug 5, 2019
GNE85Aug 5, 2019
GNPTAB63Aug 5, 2019
GNPTG47Aug 5, 2019
GRHPR51Aug 5, 2019
HACL14Jul 10, 2018
HADHA69Aug 5, 2019
HBA12Jun 22, 2017
HBB41Aug 5, 2019
HEXA147Aug 5, 2019
HEXA-AS11Jul 10, 2018
HEXB60Aug 5, 2019
HGD46Jul 10, 2018
HGSNAT44Aug 5, 2019
HLCS35Aug 5, 2019
HMGCL32Aug 5, 2019
HOGA128Aug 5, 2019
HPS33Jul 10, 2018
HSD17B462Aug 5, 2019
HYLS110Jul 10, 2018
IDS1Aug 5, 2019
IDUA151Aug 5, 2019
IL2RG1Aug 5, 2019
INSRR2Jul 10, 2018
ITGB44Jul 10, 2018
IVD46Aug 5, 2019
KCNJ1135Aug 5, 2019
KIRREL24Jul 10, 2018
KLLN5Jun 20, 2018
LAMA2181Aug 5, 2019
LAMA3141Aug 5, 2019
LAMB377Aug 5, 2019
LAMC258Jul 10, 2018
LIPA29Jul 10, 2018
LOC1019277521Jul 10, 2018
LOC1053783114Jul 10, 2018
LOC10609906230Aug 5, 2019
LOC1066279811Nov 23, 2016
LOC10679983339Aug 5, 2019
LOC10713351041Aug 5, 2019
LOC10730334016Jun 20, 2018
LOC1073033436Jul 10, 2018
LOC1074575851Jul 10, 2018
LOC1078821261Jul 10, 2018
LOC11000631912Aug 5, 2019
LOC1101214712Jul 10, 2018
LOC1101215022Nov 23, 2016
LOC1106739722Jul 10, 2018
LOC1115892159Jun 20, 2018
LOC11167446311Jul 10, 2018
LOC11167447244Aug 5, 2019
LOC11167447516Aug 5, 2019
LOC11167447715Aug 5, 2019
LOC1124862237Aug 5, 2019
LOC1136641066Aug 5, 2019
LOC1171255942Jul 10, 2018
LOXHD142Jul 10, 2018
LRPPRC67Jul 10, 2018
MAN2B173Jul 10, 2018
MCOLN128Aug 5, 2019
MCS+9.72Nov 23, 2016
MED2332Aug 5, 2019
MEFV10Aug 5, 2019
MEN119Jun 20, 2018
MESP234Jul 10, 2018
MFF-DT91Aug 5, 2019
MIR3936HG4Jul 10, 2018
MIR42601Nov 23, 2016
MKS158Aug 5, 2019
MLC143Jul 10, 2018
MLH1163Jun 20, 2018
MMAA31Aug 5, 2019
MMAB28Aug 5, 2019
MMACHC76Aug 5, 2019
MMUT94Aug 5, 2019
MPI32Aug 5, 2019
MPL14Jul 10, 2018
MPZ1Jun 20, 2018
MRE1127Jun 20, 2018
MSH2213Jun 20, 2018
MSH6283Jun 20, 2018
MTTP3Jul 10, 2018
MUTYH131Jul 10, 2018
MVK3Jul 10, 2018
MYO7A259Aug 5, 2019
NAGLU90Aug 5, 2019
NBN115Jul 10, 2018
NDUFAF24Jul 10, 2018
NDUFS41Jul 10, 2018
NEB356Aug 5, 2019
NICN16Jul 10, 2018
NPC1163Aug 5, 2019
NPC213Aug 5, 2019
NPHS1114Aug 5, 2019
NPHS260Aug 5, 2019
NR2E333Jul 10, 2018
NTRK17Jul 10, 2018
OAT3Jul 10, 2018
OPA335Jul 30, 2018
OSGIN23Jul 10, 2018
OTC1Nov 23, 2016
PAH234Aug 5, 2019
PALB2239Jun 20, 2018
PC23Aug 5, 2019
PCCA53Aug 5, 2019
PCCB74Aug 5, 2019
PCDH15275Jul 30, 2018
PEX1167Aug 5, 2019
PEX1045Aug 5, 2019
PEX1251Aug 5, 2019
PEX217Aug 5, 2019
PEX652Aug 5, 2019
PEX743Aug 5, 2019
PFKM3Jul 10, 2018
PGBD37Jul 10, 2018
PHF313Jul 10, 2018
PHGDH2Jul 10, 2018
PHYH6Jul 10, 2018
PKHD1306Aug 5, 2019
PLCH24Aug 5, 2019
PMM271Aug 5, 2019
PMS2137Jun 20, 2018
POLD199Jun 20, 2018
POLE151Jun 20, 2018
POMGNT193Aug 5, 2019
POMT11Aug 5, 2019
PPT147Aug 5, 2019
PROP129Jul 10, 2018
PTEN54Jun 20, 2018
PTS41Aug 5, 2019
PUS310Jul 10, 2018
PYGM71Jul 10, 2018
RAD5043Jun 20, 2018
RAD51C97Jun 20, 2018
RAD51D73Jun 20, 2018
RAD51L3-RFFL73Jun 20, 2018
RAG23Jul 10, 2018
RAPSN3Jul 10, 2018
RET215Jun 20, 2018
RIF1136Aug 5, 2019
RMRP126Aug 5, 2019
RPE6515Jul 10, 2018
RPL36A-HNRNPH23Aug 5, 2019
RS111Aug 5, 2019
RTEL197Aug 5, 2019
RTEL1-TNFRSF6B97Aug 5, 2019
SACS278Aug 5, 2019
SAMD99Jul 10, 2018
SCO26Jul 10, 2018
SDHA59Jun 20, 2018
SDHB14Jun 20, 2018
SDHC9Jun 20, 2018
SERPINA128Jul 10, 2018
SGCA51Aug 5, 2019
SGCB30Aug 5, 2019
SGCD43Jul 10, 2018
SGCG21Aug 5, 2019
SGSH63Aug 5, 2019
SLC12A642Jul 10, 2018
SLC17A546Aug 5, 2019
SLC22A589Aug 5, 2019
SLC26A151Jul 30, 2018
SLC26A113Aug 5, 2019
SLC26A2134Aug 5, 2019
SLC26A4210Aug 5, 2019
SLC26A4-AS117Aug 5, 2019
SLC37A4346Aug 5, 2019
SMAD433Jun 20, 2018
SMN11Jun 20, 2017
SMPD1117Aug 5, 2019
SPATA2254Aug 5, 2019
STAR30Jul 10, 2018
STK11118Jun 20, 2018
SUMF15Jul 10, 2018
SYCE212Aug 5, 2019
TAT22Aug 5, 2019
TAT-AS113Jul 10, 2018
TCIRG168Aug 5, 2019
TECPR24Jul 10, 2018
TEX121Jul 10, 2018
TGM177Aug 5, 2019
TH60Aug 5, 2019
TH2-LCR1Jun 22, 2017
TH2LCRR4Jun 20, 2018
TMEM21626Jul 10, 2018
TMEM431Jul 10, 2018
TMPPE1Jul 10, 2018
TNFRSF6B21Jul 10, 2018
TOE13Jul 10, 2018
TP53100Jun 20, 2018
TPP153Aug 5, 2019
TRMU5Jul 10, 2018
TRPV11Mar 11, 2015
TSPAN186Aug 5, 2019
TSPAN314Jun 20, 2018
TTPA22Jul 10, 2018
TYMP8Jul 10, 2018
USH1C116Aug 5, 2019
USH2A520Aug 5, 2019
USH2A-AS139Aug 5, 2019
USH2A-AS226Aug 5, 2019
VHL42Jun 20, 2018
VPS13A5Jul 10, 2018
VPS13B293Aug 5, 2019
VPS533Jul 10, 2018
VRK11Jul 10, 2018
VSX21Jul 10, 2018
XPA61Jul 10, 2018
XPC89Aug 5, 2019
ZDHHC2434Aug 5, 2019
ZFYVE2664Aug 5, 2019
ZMYND111Nov 23, 2016
ZNF27635Jul 10, 2018

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 335Jul 30, 2018
Abetalipoproteinaemia3Jul 10, 2018
Achondrogenesis, type IB23Nov 23, 2016
Achromatopsia 343Jul 10, 2018
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins5Jul 10, 2018
Adrenoleukodystrophy2Aug 5, 2019
Agenesis of the corpus callosum with peripheral neuropathy42Jul 10, 2018
Alkaptonuria46Jul 10, 2018
Alpha-1-antitrypsin deficiency28Jul 10, 2018
Alport syndrome 1, X-linked recessive3Aug 5, 2019
Alport syndrome, autosomal recessive200Aug 5, 2019
Alstrom syndrome688Aug 5, 2019
Anemia, nonspherocytic hemolytic, due to G6PD deficiency5Jun 22, 2017
Arginase deficiency34Aug 5, 2019
Argininosuccinate lyase deficiency64Jul 10, 2018
Asparagine synthetase deficiency1Nov 23, 2016
Aspartylglucosaminuria33Aug 5, 2019
Ataxia-telangiectasia syndrome482Jul 10, 2018
Ataxia-telangiectasia-like disorder 127Jun 20, 2018
Atelosteogenesis type II25Aug 5, 2019
Autosomal recessive DOPA responsive dystonia60Aug 5, 2019
Autosomal recessive congenital ichthyosis 177Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2B179Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2D51Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2E30Aug 5, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2F43Jul 10, 2018
Autosomal recessive osteopetrosis 168Aug 5, 2019
Autosomal recessive polycystic kidney disease306Aug 5, 2019
BH4-deficient hyperphenylalaninemia A41Aug 5, 2019
Bardet-Biedl syndrome5Mar 11, 2015
Bardet-Biedl syndrome 153Aug 5, 2019
Bardet-Biedl syndrome 1085Aug 5, 2019
Bardet-Biedl syndrome 1255Aug 5, 2019
Bardet-Biedl syndrome 1349Aug 5, 2019
Bardet-Biedl syndrome 265Aug 5, 2019
Becker muscular dystrophy5Aug 5, 2019
Bifunctional peroxisomal enzyme deficiency62Aug 5, 2019
Biotinidase deficiency119Aug 5, 2019
Bloom syndrome128Aug 5, 2019
Breast-ovarian cancer, familial 1583Jun 20, 2018
Breast-ovarian cancer, familial 2927Jun 20, 2018
Breast-ovarian cancer, familial 364Jun 20, 2018
Breast-ovarian cancer, familial 473Jun 20, 2018
Carnitine palmitoyltransferase 1A deficiency39Aug 5, 2019
Carnitine palmitoyltransferase II deficiency, infantile71Aug 5, 2019
Carnitine palmitoyltransferase II deficiency, lethal neonatal18Nov 23, 2016
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced18Nov 23, 2016
Cerebrooculofacioskeletal syndrome 180Jul 10, 2018
Ceroid lipofuscinosis neuronal 253Aug 5, 2019
Charlevoix-Saguenay spastic ataxia277Aug 5, 2019
Cholestanol storage disease60Aug 5, 2019
Cholesterol monooxygenase (side-chain cleaving) deficiency30Jul 10, 2018
Choreoacanthocytosis5Jul 10, 2018
Choroideremia2Nov 23, 2016
Ciliary dyskinesia, primary, 348Jul 10, 2018
Ciliary dyskinesia, primary, 97Jul 10, 2018
Citrullinemia type I68Aug 5, 2019
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency8Mar 11, 2015
Classic homocystinuria88Aug 5, 2019
Cobalamin C disease76Aug 5, 2019
Cockayne syndrome B80Jul 10, 2018
Cockayne syndrome type A37Aug 5, 2019
Cohen syndrome293Aug 5, 2019
Colorectal cancer 1099Jun 20, 2018
Colorectal cancer, susceptibility to, 12151Jun 20, 2018
Combined cellular and humoral immune defects with granulomas3Jul 10, 2018
Congenital amegakaryocytic thrombocytopenia14Jul 10, 2018
Congenital disorder of glycosylation type 1C39Aug 5, 2019
Congenital disorder of glycosylation, type Ia71Aug 5, 2019
Congenital hyperammonemia, type I84Jul 10, 2018
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type67Jul 10, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B35Aug 5, 2019
Cowden syndrome 154Jun 20, 2018
Cutaneous malignant melanoma 314Jun 20, 2018
Cystic fibrosis464Aug 5, 2019
DE SANCTIS-CACCHIONE SYNDROME87Aug 5, 2019
Deafness enamel hypoplasia nail defects2Aug 5, 2019
Deafness, autosomal dominant 3a25Nov 23, 2016
Deafness, autosomal recessive 18112Aug 5, 2019
Deafness, autosomal recessive 1A113Aug 5, 2019
Deafness, autosomal recessive 2250Aug 5, 2019
Deafness, autosomal recessive 7742Jul 10, 2018
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase102Aug 5, 2019
Deficiency of alpha-mannosidase73Jul 10, 2018
Deficiency of butyryl-CoA dehydrogenase71Aug 5, 2019
Deficiency of butyrylcholine esterase58Jul 10, 2018
Deficiency of galactokinase35Jul 10, 2018
Deficiency of hydroxymethylglutaryl-CoA lyase32Aug 5, 2019
Deficiency of steroid 11-beta-monooxygenase54Aug 5, 2019
Diastrophic dysplasia23Nov 23, 2016
Dihydropyrimidine dehydrogenase deficiency79Jul 10, 2018
Dilated cardiomyopathy 1L43Jul 10, 2018
Dilated cardiomyopathy 3B5Aug 5, 2019
Duchenne muscular dystrophy5Aug 5, 2019
Dyskeratosis congenita, autosomal recessive, 597Aug 5, 2019
Ehlers-Danlos syndrome dermatosparaxis type6Jul 10, 2018
Ellis-van Creveld syndrome154Aug 5, 2019
Enhanced s-cone syndrome33Jul 10, 2018
Fabry disease3Aug 5, 2019
Familial Mediterranean fever10Aug 5, 2019
Familial adenomatous polyposis 1309Jun 20, 2018
Familial cancer of breast464Jun 20, 2018
Familial dysautonomia72Aug 5, 2019
Familial isolated deficiency of vitamin E22Jul 10, 2018
Fanconi anemia, complementation group A198Aug 5, 2019
Fanconi anemia, complementation group C82Aug 5, 2019
Fanconi anemia, complementation group J190Jun 20, 2018
Fanconi anemia, complementation group O64Jun 20, 2018
Finnish congenital nephrotic syndrome114Aug 5, 2019
Fukuyama congenital muscular dystrophy33Aug 5, 2019
GM1 gangliosidosis type 288Aug 5, 2019
GM1 gangliosidosis type 388Aug 5, 2019
GNE myopathy85Aug 5, 2019
GRACILE syndrome43Jul 10, 2018
Galactosylceramide beta-galactosidase deficiency126Aug 5, 2019
Gaucher's disease, type 11Nov 23, 2016
Glucose-6-phosphate transport defect346Aug 5, 2019
Glutaric aciduria, type 1101Aug 5, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA46Aug 5, 2019
Glycogen storage disease type III129Aug 5, 2019
Glycogen storage disease, type II201Aug 5, 2019
Glycogen storage disease, type IV9Jul 10, 2018
Glycogen storage disease, type V71Jul 10, 2018
Glycogen storage disease, type VII3Jul 10, 2018
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1Jul 10, 2018
Hereditary diffuse gastric cancer146Jun 20, 2018
Hereditary factor XI deficiency disease95Jul 10, 2018
Hereditary fructosuria40Aug 5, 2019
Hereditary insensitivity to pain with anhidrosis7Jul 10, 2018
Hereditary nonpolyposis colorectal cancer type 4137Jun 20, 2018
Hereditary nonpolyposis colorectal cancer type 5283Jun 20, 2018
Hereditary nonpolyposis colorectal cancer type 82Jun 20, 2018
Hereditary spastic paraplegia 1564Aug 5, 2019
Hermansky-Pudlak syndrome 33Jul 10, 2018
Hidrotic ectodermal dysplasia syndrome1Nov 23, 2016
Histiocytic medullary reticulosis3Jul 10, 2018
Holocarboxylase synthetase deficiency35Aug 5, 2019
Hurler syndrome151Aug 5, 2019
Hydrolethalus syndrome 110Jul 10, 2018
Hyperinsulinemic hypoglycemia, familial, 1172Aug 5, 2019
Idiopathic nephrotic syndrome60Aug 5, 2019
Infantile GM1 gangliosidosis88Aug 5, 2019
Infantile Refsum's disease47Jul 10, 2018
Infantile hypophosphatasia94Aug 5, 2019
Islet cell hyperplasia34Jul 10, 2018
Isovaleryl-CoA dehydrogenase deficiency46Aug 5, 2019
Joubert syndrome 220Jul 10, 2018
Joubert syndrome 2850Aug 5, 2019
Junctional epidermolysis bullosa gravis of Herlitz275Aug 5, 2019
Junctional epidermolysis bullosa, non-Herlitz type1Aug 5, 2019
Juvenile polyposis syndrome69Jun 20, 2018
Juvenile retinoschisis11Aug 5, 2019
Kartagener syndrome15Jul 10, 2018
Kugelberg-Welander disease1Jun 20, 2017
Leber congenital amaurosis 215Jul 10, 2018
Leigh syndrome1Jul 10, 2018
Li-Fraumeni syndrome 1100Jun 20, 2018
Limb-girdle muscular dystrophy, type 2A172Aug 5, 2019
Limb-girdle muscular dystrophy-dystroglycanopathy, type C35Aug 5, 2019
Limb-girdle muscular dystrophy-dystroglycanopathy, type C563Aug 5, 2019
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency69Aug 5, 2019
Lynch syndrome I214Jun 20, 2018
Lynch syndrome II162Jun 20, 2018
Lysosomal acid lipase deficiency29Jul 10, 2018
MPI-CDG32Aug 5, 2019
MYH-associated polyposis131Jul 10, 2018
Maple syrup urine disease137Aug 5, 2019
Maple syrup urine disease, type 325Aug 5, 2019
Meckel syndrome type 149Aug 5, 2019
Meckel syndrome, type 221Jul 10, 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency96Aug 5, 2019
Megalencephalic leukoencephalopathy with subcortical cysts 143Jul 10, 2018
Melanoma-pancreatic cancer syndrome56Jun 20, 2018
Merosin deficient congenital muscular dystrophy181Aug 5, 2019
Metachromatic leukodystrophy97Aug 5, 2019
Metaphyseal chondrodysplasia, McKusick type126Aug 5, 2019
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency94Aug 5, 2019
Microcephaly, normal intelligence and immunodeficiency115Jul 10, 2018
Microphthalmia, isolated, with coloboma 31Jul 10, 2018
Mitochondrial DNA depletion syndrome 1 (MNGIE type)8Jul 10, 2018
Mitochondrial complex I deficiency1Jul 10, 2018
Mitochondrial complex III deficiency, nuclear type 13Aug 5, 2019
Mucolipidosis type II60Aug 5, 2019
Mucolipidosis type III gamma47Aug 5, 2019
Mucolipidosis type IV28Aug 5, 2019
Mucopolysaccharidosis, MPS-II1Aug 5, 2019
Mucopolysaccharidosis, MPS-III-A63Aug 5, 2019
Mucopolysaccharidosis, MPS-III-B90Aug 5, 2019
Mucopolysaccharidosis, MPS-III-C44Aug 5, 2019
Mucopolysaccharidosis, MPS-IV-B95Aug 5, 2019
Multiple endocrine neoplasia, type 119Jun 20, 2018
Multiple endocrine neoplasia, type 2a144Jun 20, 2018
Multiple endocrine neoplasia, type 2b71Nov 23, 2016
Multiple epiphyseal dysplasia type 463Jul 10, 2018
Multiple sulfatase deficiency5Jul 10, 2018
Muscle eye brain disease75Aug 5, 2019
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency3Jul 10, 2018
Nemaline myopathy 2356Aug 5, 2019
Neoplasm of ovary190Jun 20, 2018
Nephropathic cystinosis58Aug 5, 2019
Neu-Laxova syndrome 12Jul 10, 2018
Neuronal ceroid lipofuscinosis 147Aug 5, 2019
Neuronal ceroid lipofuscinosis 340Aug 5, 2019
Neuronal ceroid lipofuscinosis 542Aug 5, 2019
Neuronal ceroid lipofuscinosis 636Aug 5, 2019
Neuronal ceroid lipofuscinosis 828Aug 5, 2019
Niemann-Pick disease type C1163Aug 5, 2019
Niemann-Pick disease, type A105Aug 5, 2019
Niemann-Pick disease, type B12Aug 5, 2019
Niemann-Pick disease, type C213Aug 5, 2019
Nijmegen breakage syndrome-like disorder43Jun 20, 2018
Non-ketotic hyperglycinemia146Aug 5, 2019
Ornithine aminotransferase deficiency3Jul 10, 2018
Ornithine carbamoyltransferase deficiency1Nov 23, 2016
Paragangliomas 39Jun 20, 2018
Paragangliomas 414Jun 20, 2018
Paragangliomas 560Jun 20, 2018
Pena-Shokeir syndrome type I3Jul 10, 2018
Pendred syndrome210Aug 5, 2019
Permanent neonatal diabetes mellitus34Jul 10, 2018
Peroxisome biogenesis disorder 1A (Zellweger)121Aug 5, 2019
Peroxisome biogenesis disorder 1B44Aug 5, 2019
Peroxisome biogenesis disorder 3A48Aug 5, 2019
Peroxisome biogenesis disorder 4B51Aug 5, 2019
Peroxisome biogenesis disorder 4a (zellweger)48Jul 10, 2018
Peroxisome biogenesis disorder 5B15Aug 5, 2019
Peroxisome biogenesis disorder 5a (zellweger)14Jul 10, 2018
Peroxisome biogenesis disorder 6A40Aug 5, 2019
Peroxisome biogenesis disorder 6B42Aug 5, 2019
Peutz-Jeghers syndrome118Jun 20, 2018
Phenylketonuria234Aug 5, 2019
Phosphoglycerate dehydrogenase deficiency2Jul 10, 2018
Phytanic acid storage disease6Jul 10, 2018
Pituitary hormone deficiency, combined 229Jul 10, 2018
Polyglandular autoimmune syndrome, type 166Aug 5, 2019
Pontocerebellar hypoplasia type 1A1Jul 10, 2018
Pontocerebellar hypoplasia, type 2e3Jul 10, 2018
Primary hyperoxaluria, type I59Jul 10, 2018
Primary hyperoxaluria, type II51Aug 5, 2019
Primary hyperoxaluria, type III28Aug 5, 2019
Propionic acidemia127Aug 5, 2019
Pseudo-Hurler polydystrophy62Aug 5, 2019
Pyknodysostosis36Jul 10, 2018
Pyruvate carboxylase deficiency23Aug 5, 2019
Renal carnitine transport defect89Aug 5, 2019
Renal tubular acidosis with progressive nerve deafness16Jul 10, 2018
Retinitis pigmentosa 2015Jul 10, 2018
Retinitis pigmentosa 2553Jul 10, 2018
Retinitis pigmentosa 263Jul 10, 2018
Retinitis pigmentosa 287Jul 10, 2018
Retinitis pigmentosa 3733Jul 10, 2018
Retinitis pigmentosa 39503Aug 5, 2019
Retinitis pigmentosa 768Aug 5, 2019
Rhizomelic chondrodysplasia punctata type 143Aug 5, 2019
Salla disease46Aug 5, 2019
Sandhoff disease60Aug 5, 2019
Severe autosomal recessive muscular dystrophy of childhood - North African type21Aug 5, 2019
Severe combined immunodeficiency due to ADA deficiency47Aug 5, 2019
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3Jul 10, 2018
Sjögren-Larsson syndrome55Aug 5, 2019
Smith-Lemli-Opitz syndrome101Aug 5, 2019
Spastic paraplegia 49, autosomal recessive4Jul 10, 2018
Spinal muscular atrophy, type II1Jun 20, 2017
Spinal muscular atrophy, type IV1Jun 20, 2017
Spondylocostal dysostosis 2, autosomal recessive34Jul 10, 2018
Spongy degeneration of central nervous system54Aug 5, 2019
Tay-Sachs disease147Aug 5, 2019
Thrombophilia due to thrombin defect1Jun 22, 2017
Transient neonatal diabetes mellitus 335Aug 5, 2019
Tumoral calcinosis, familial, normophosphatemic9Jul 10, 2018
Tyrosinemia type I53Aug 5, 2019
Tyrosinemia type II22Aug 5, 2019
UDPglucose-4-epimerase deficiency1Nov 23, 2016
Usher Syndrome, Type III33Jul 10, 2018
Usher syndrome type 1240Aug 5, 2019
Usher syndrome type 1F275Jul 30, 2018
Usher syndrome, type 1C109Aug 5, 2019
Usher syndrome, type 2A474Aug 5, 2019
Very long chain acyl-CoA dehydrogenase deficiency195Aug 5, 2019
Vitamin B12-responsive methylmalonic acidemia type cblA31Aug 5, 2019
Vitamin B12-responsive methylmalonic acidemia type cblB28Aug 5, 2019
Von Hippel-Lindau syndrome42Jun 20, 2018
Werdnig-Hoffmann disease1Jun 20, 2017
Wilson disease273Aug 5, 2019
X-linked severe combined immunodeficiency1Aug 5, 2019
Xeroderma pigmentosum group A61Jul 10, 2018
Xeroderma pigmentosum, group C89Aug 5, 2019
alpha Thalassemia3Aug 18, 2017
beta Thalassemia41Aug 5, 2019
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