Knight Diagnostic Laboratories (Oregon Health and Sciences University), KDL-OHSU

General information

Knight Diagnostic Laboratories, KDL-OHSU
Oregon Health and Sciences University
2525 SW 3rd Ave Ste 350
Portland
Oregon
United States - 97201

Organization ID: 505542

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 543

Gene

GeneSubmissionsLast Updated
ABCA121Sep 2, 2020
ABCA49Sep 2, 2020
ABCC91Sep 2, 2020
ACADM2Sep 2, 2020
ACADS1May 29, 2015
ACADVL2Jan 19, 2017
ACSF31Sep 2, 2020
ADAMTS131Aug 10, 2016
ADGRV12Sep 2, 2020
AGA1Jan 19, 2017
AGL2Sep 2, 2020
AGXT1May 29, 2015
AIPL11Jan 19, 2017
ALG11Sep 2, 2020
ALG61Aug 10, 2016
ALMS11May 29, 2015
ALOX12B1May 29, 2015
ALOXE31Sep 2, 2020
AMACR1Sep 2, 2020
AMBN1Sep 2, 2020
ANGPT21Sep 2, 2020
ANK21Sep 2, 2020
ANKRD111Sep 2, 2020
ANO51Sep 2, 2020
AP3B21Sep 2, 2020
APBB11Jan 19, 2017
APC3Sep 2, 2020
APOB3Sep 2, 2020
ARHGAP11A-SCG51Aug 10, 2016
ARID1B1Sep 2, 2020
ARSA1Sep 2, 2020
ARSB1Sep 2, 2020
ASAH11Sep 2, 2020
ASL1Aug 10, 2016
ASS11Sep 2, 2020
ATL11Sep 2, 2020
ATM4Sep 2, 2020
ATP7B3Sep 2, 2020
ATRIP1Aug 10, 2016
ATRIP-TREX11Aug 10, 2016
B3GLCT1Sep 2, 2020
B4GALNT11Sep 2, 2020
B9D11Sep 2, 2020
BBS11Sep 2, 2020
BCHE1Aug 10, 2016
BPNT21Sep 2, 2020
BRCA12Aug 10, 2016
BRCA22Aug 10, 2016
BRIP12Sep 2, 2020
BTD2Sep 2, 2020
C11orf653Sep 2, 2020
C12orf291Sep 2, 2020
C12orf571Sep 2, 2020
C1QTNF3-AMACR1Sep 2, 2020
CACNA1B1Sep 2, 2020
CACNA1C1Aug 10, 2016
CACNA1S5Aug 10, 2016
CACNB22Aug 10, 2016
CASD11Sep 2, 2020
CASQ21Aug 10, 2016
CC2D1A1Sep 2, 2020
CCDC401Sep 2, 2020
CCDC81Sep 2, 2020
CDH13Aug 10, 2016
CDKN1C1Sep 2, 2020
CEP2906Sep 2, 2020
CEP631Sep 2, 2020
CFI1Sep 2, 2020
CFTR1Aug 10, 2016
CFTR-AS11Aug 10, 2016
CHEK27Sep 2, 2020
CHRND1Aug 10, 2016
CHST141Sep 2, 2020
CLCN21Sep 2, 2020
CLN81Sep 2, 2020
COL18A11Sep 2, 2020
COL3A12Aug 10, 2016
COL4A31Sep 2, 2020
COL6A21Sep 2, 2020
COL7A12Aug 10, 2016
CPEB1-AS11Sep 2, 2020
CPT25Sep 2, 2020
CRB11Sep 2, 2020
CRTAP1May 29, 2015
CSTB2Sep 2, 2020
CTC12Sep 2, 2020
CTNS1Jan 19, 2017
CTRC1Sep 2, 2020
CUL71Sep 2, 2020
CYP21A22Jan 19, 2017
CYP24A11Sep 2, 2020
CYP27A11Jan 19, 2017
DBT1Sep 2, 2020
DHCR72Sep 2, 2020
DHODH1Sep 2, 2020
DMD7Sep 2, 2020
DMPK1Aug 10, 2016
DOCK72Sep 2, 2020
DSP3Aug 10, 2016
DUOX21Sep 2, 2020
DYNC1H11Sep 2, 2020
DYNC2I11Sep 2, 2020
EIF2B41Sep 2, 2020
EIF2B51Sep 2, 2020
ELOVL51Sep 2, 2020
ENG1Aug 10, 2016
EPCAM1Aug 10, 2016
EPG52Sep 2, 2020
EPM2A1Jan 19, 2017
ERCC22Aug 10, 2016
ERCC41Sep 2, 2020
ERCC61May 29, 2015
ERCC6-PGBD31May 29, 2015
ERCC6L21Sep 2, 2020
EYS1Aug 10, 2016
F111Aug 10, 2016
F11-AS11Aug 10, 2016
F13B1Sep 2, 2020
F52Sep 2, 2020
F71Sep 2, 2020
F81Aug 10, 2016
FAH1Aug 10, 2016
FANCA6Sep 2, 2020
FANCD22Sep 2, 2020
FANCD2OS2Sep 2, 2020
FANCG1Sep 2, 2020
FASN1Sep 2, 2020
FAT41Sep 2, 2020
FBN11Aug 10, 2016
FECH1Jan 19, 2017
FGA1Aug 10, 2016
FGFR21Sep 2, 2020
FKBP141Sep 2, 2020
FKBP14-AS11Sep 2, 2020
FKTN1Sep 2, 2020
FLG2Sep 2, 2020
FOXP11Sep 2, 2020
FREM21Sep 2, 2020
G6PC11May 29, 2015
G6PD2Jan 19, 2017
GAA4Sep 2, 2020
GABBR21Sep 2, 2020
GALT1Aug 10, 2016
GAREM21Aug 10, 2016
GATA41Sep 2, 2020
GBA2Aug 10, 2016
GCK2Sep 2, 2020
GFER1Sep 2, 2020
GJB11Sep 2, 2020
GJB218Sep 2, 2020
GLA1Sep 2, 2020
GLDC1Aug 10, 2016
GNAO11Sep 2, 2020
GNE1Aug 10, 2016
GRIP11Sep 2, 2020
GYS21Aug 10, 2016
HADH1May 29, 2015
HADHA1Aug 10, 2016
HBB2Aug 10, 2016
HEXA1Aug 10, 2016
HEXB1Sep 2, 2020
HFE3Sep 2, 2020
HFE-AS11Aug 10, 2016
HGD1Aug 10, 2016
HMBS1Aug 10, 2016
HRAS1Sep 2, 2020
HYLS11Aug 10, 2016
IDUA3Sep 2, 2020
ILDR11Sep 2, 2020
IMPG22Sep 2, 2020
INVS1Aug 10, 2016
ITGB41Aug 10, 2016
IVD1Sep 2, 2020
KCND31Sep 2, 2020
KCNH24Aug 10, 2016
KCNQ12Aug 10, 2016
KCNQ41Sep 2, 2020
KCNV21Sep 2, 2020
KIF1C1Sep 2, 2020
KIT1Aug 10, 2016
KMT2A1Sep 2, 2020
KPNA71Sep 2, 2020
LAMA23Sep 2, 2020
LAMB31Aug 10, 2016
LDLR3Sep 2, 2020
LIPT11Sep 2, 2020
LIX1L-AS11Sep 2, 2020
LMNA1Sep 2, 2020
LOC1053715661Sep 2, 2020
LOC1060990621Aug 10, 2016
LOC1066279812Aug 10, 2016
LOC1067808002Jan 19, 2017
LOC1070753171Aug 10, 2016
LOC1071335102Aug 10, 2016
LOC1100063191Aug 10, 2016
LOC1124862231Sep 2, 2020
LOC1148278501Aug 10, 2016
LRPPRC2Aug 10, 2016
LRRC561Sep 2, 2020
MCCC21Sep 2, 2020
MCEE1Sep 2, 2020
MCPH11Sep 2, 2020
MECP26Sep 2, 2020
MEFV2Sep 2, 2020
MFF-DT1Sep 2, 2020
MITD11Sep 2, 2020
MITF2Sep 2, 2020
MKS11Sep 2, 2020
MMAA1Sep 2, 2020
MMACHC1May 29, 2015
MPO1Sep 2, 2020
MSH23Aug 10, 2016
MSH63Sep 2, 2020
MTFMT1Sep 2, 2020
MTMR21Sep 2, 2020
MTO11Sep 2, 2020
MUTYH2Aug 10, 2016
MVK2Sep 2, 2020
MYBPC36Aug 10, 2016
MYH116Aug 10, 2016
MYH76Sep 2, 2020
MYL21Aug 10, 2016
MYL31Sep 2, 2020
MYLK3Aug 10, 2016
MYO15A2Sep 2, 2020
MYO7A5Sep 2, 2020
MYPN1Sep 2, 2020
NAGA2Sep 2, 2020
NAGLU1Sep 2, 2020
NARS21Sep 2, 2020
NBEAL21Sep 2, 2020
NBN2Sep 2, 2020
NDE15Aug 10, 2016
NEB4Sep 2, 2020
NEUROG32Sep 2, 2020
NF21Aug 10, 2016
NIN1Sep 2, 2020
NOTCH11Sep 2, 2020
NSUN61Aug 10, 2016
NT5C21Sep 2, 2020
OBSL11Sep 2, 2020
OFD11May 29, 2015
OTOA1Aug 10, 2016
OTOGL1Sep 2, 2020
PAH5Sep 2, 2020
PALB21Sep 2, 2020
PC1Sep 2, 2020
PCBD11Aug 10, 2016
PEPD1Sep 2, 2020
PEX72Aug 10, 2016
PFAS1Sep 2, 2020
PGAP11Sep 2, 2020
PHGDH1Sep 2, 2020
PIGO2Sep 2, 2020
PIGW1Sep 2, 2020
PKHD11May 29, 2015
PKLR1Aug 10, 2016
PKP23Aug 10, 2016
PLA2G63Sep 2, 2020
PLEC2Sep 2, 2020
PLG1Aug 10, 2016
PMM21Sep 2, 2020
PMS23Aug 10, 2016
PNKP1Sep 2, 2020
PNPO1May 29, 2015
POLD12Aug 10, 2016
POLE8Sep 2, 2020
POLG3Sep 2, 2020
POMT12Aug 10, 2016
PRDM161Sep 2, 2020
PREPL1Jan 19, 2017
PRF11Sep 2, 2020
PRKAG21Sep 2, 2020
PROC1Sep 2, 2020
PROM11Aug 10, 2016
PRSS121Sep 2, 2020
PTEN1Sep 2, 2020
PUS11Aug 10, 2016
PUS31Aug 10, 2016
PYGM1Aug 10, 2016
RARS21Sep 2, 2020
RBM201Aug 10, 2016
RBM8A1Sep 2, 2020
RERE1Sep 2, 2020
RIF13Sep 2, 2020
RIT11Sep 2, 2020
ROGDI1Sep 2, 2020
RPL36A-HNRNPH21Sep 2, 2020
RUNX11Sep 2, 2020
RYR16Sep 2, 2020
RYR22Aug 10, 2016
SACS1May 29, 2015
SAG1Aug 10, 2016
SBDS1Sep 2, 2020
SCG51Aug 10, 2016
SCN1A1Sep 2, 2020
SCN1A-AS11Sep 2, 2020
SCN9A1Sep 2, 2020
SDHC1Aug 10, 2016
SELENON1Sep 2, 2020
SERPINA14Sep 2, 2020
SETX1Sep 2, 2020
SGCA1Aug 10, 2016
SGCE1Sep 2, 2020
SGSH1Sep 2, 2020
SH3TC22Sep 2, 2020
SLC12A31Sep 2, 2020
SLC12A51Sep 2, 2020
SLC17A51Sep 2, 2020
SLC19A11Sep 2, 2020
SLC25A221Sep 2, 2020
SLC26A41Aug 10, 2016
SLC3A13Jan 19, 2017
SLC7A71Sep 2, 2020
SLC7A92Aug 10, 2016
SMAD31Aug 10, 2016
SMAD41Aug 10, 2016
SMPD11Jan 19, 2017
SNTA11Sep 2, 2020
SOX51Sep 2, 2020
SPAG11Sep 2, 2020
SPG111Sep 2, 2020
SPG71May 29, 2015
SRD5A31Sep 2, 2020
SRD5A3-AS11Sep 2, 2020
STIL1Sep 2, 2020
STRC1May 29, 2015
SUFU1Sep 2, 2020
SZT21Sep 2, 2020
TBC1D241Sep 2, 2020
TBCE1Aug 10, 2016
TBCEL-TECTA1Sep 2, 2020
TBX151Sep 2, 2020
TBXAS11Sep 2, 2020
TCTN21Sep 2, 2020
TECTA1Sep 2, 2020
TGFB23Aug 10, 2016
TGFBR11Aug 10, 2016
TGFBR22Aug 10, 2016
TH1Sep 2, 2020
TICAM11Sep 2, 2020
TJP21Sep 2, 2020
TK21Aug 10, 2016
TMC11May 29, 2015
TMEM1271Aug 10, 2016
TMPRSS35Sep 2, 2020
TMPRSS61Sep 2, 2020
TNFRSF13B1Sep 2, 2020
TNNT22Aug 10, 2016
TPP11Aug 10, 2016
TRAPPC21May 29, 2015
TREX11Aug 10, 2016
TRPS11Sep 2, 2020
TSC23Aug 10, 2016
TSPEAR1Sep 2, 2020
TTN12Sep 2, 2020
TTN-AS16Sep 2, 2020
TUBGCP61Sep 2, 2020
TULP12Aug 10, 2016
TXNRD21Sep 2, 2020
TYK21Sep 2, 2020
UGT1A1Aug 10, 2016
UGT1A11Aug 10, 2016
UGT1A101Aug 10, 2016
UGT1A31Aug 10, 2016
UGT1A41Aug 10, 2016
UGT1A51Aug 10, 2016
UGT1A61Aug 10, 2016
UGT1A71Aug 10, 2016
UGT1A81Aug 10, 2016
UGT1A91Aug 10, 2016
UNC801Sep 2, 2020
USH1G1Sep 2, 2020
USH2A6Sep 2, 2020
USH2A-AS12Sep 2, 2020
VARS21Sep 2, 2020
VHL1Aug 10, 2016
VPS13B1Sep 2, 2020
ZC3H141Sep 2, 2020
ZDHHC241Sep 2, 2020
ZFYVE261Sep 2, 2020
ZMYND101Sep 2, 2020
ZNF2761Sep 2, 2020
ZNF4691Sep 2, 2020

Condition

NameSubmissionsLast Updated
3-methylcrotonyl CoA carboxylase 2 deficiency1Sep 2, 2020
ALG1-CDG1Sep 2, 2020
Abdominal pain1Sep 2, 2020
Abnormal facial shape2Sep 2, 2020
Abnormal peripheral nervous system morphology1Sep 2, 2020
Abnormality of brain morphology1Sep 2, 2020
Abnormality of cardiovascular system morphology2Sep 2, 2020
Abnormality of eye movement4Sep 2, 2020
Abnormality of skeletal morphology1Sep 2, 2020
Abnormality of the face1Sep 2, 2020
Abnormality of the immune system1Sep 2, 2020
Abnormality of the male genitalia1Sep 2, 2020
Abnormality of the neck1Sep 2, 2020
Abnormality of the nervous system4Sep 2, 2020
Abnormality of the optic nerve1Sep 2, 2020
Acrocephalosyndactyly type I1Sep 2, 2020
Acute intermittent porphyria1Aug 10, 2016
Afibrinogenemia, congenital1Aug 10, 2016
Aggressive behavior1Sep 2, 2020
Aicardi Goutieres syndrome 11Aug 10, 2016
Alkaptonuria1Aug 10, 2016
Alpha-1-antitrypsin deficiency3Sep 2, 2020
Alpha-N-acetylgalactosaminidase deficiency type 12Sep 2, 2020
Alport syndrome1Sep 2, 2020
Alstrom syndrome1May 29, 2015
Amelogenesis imperfecta, type IF1Sep 2, 2020
Amyotrophic lateral sclerosis type 41Sep 2, 2020
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Jan 19, 2017
Aortic aneurysm, familial thoracic 46Aug 10, 2016
Aortic aneurysm, familial thoracic 73Aug 10, 2016
Argininosuccinate lyase deficiency1Aug 10, 2016
Arrhythmogenic right ventricular dysplasia 83Aug 10, 2016
Arrhythmogenic right ventricular dysplasia 93Aug 10, 2016
Arrhythmogenic right ventricular dysplasia, familial, 22Aug 10, 2016
Aspartylglucosaminuria1Jan 19, 2017
Ataxia, spastic, 2, autosomal recessive1Sep 2, 2020
Atypical hemolytic-uremic syndrome 31Sep 2, 2020
Autistic disorder of childhood onset1Sep 2, 2020
Autosomal dominant nonsyndromic deafness 2A1Sep 2, 2020
Autosomal recessive DOPA responsive dystonia1Sep 2, 2020
Autosomal recessive congenital ichthyosis 21May 29, 2015
Autosomal recessive congenital ichthyosis 31Sep 2, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D1Aug 10, 2016
Bardet-Biedl syndrome1May 29, 2015
Bardet-Biedl syndrome 11Sep 2, 2020
Becker muscular dystrophy2Aug 10, 2016
Behavioral abnormality2Sep 2, 2020
Biotinidase deficiency2Sep 2, 2020
Bone marrow failure syndrome 21Sep 2, 2020
Breast-ovarian cancer, familial 12Aug 10, 2016
Breast-ovarian cancer, familial 22Aug 10, 2016
Brittle cornea syndrome 11Sep 2, 2020
Bulbous nose1Sep 2, 2020
Carnitine palmitoyltransferase II deficiency, infantile2Aug 10, 2016
Carnitine palmitoyltransferase II deficiency, lethal neonatal1May 29, 2015
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1Sep 2, 2020
Cerebellar ataxia1Sep 2, 2020
Cerebroretinal microangiopathy with calcifications and cysts 11Sep 2, 2020
Ceroid lipofuscinosis neuronal 21Aug 10, 2016
Charcot-Marie-Tooth disease type 2B11Sep 2, 2020
Charcot-Marie-Tooth disease, axonal type 2X1Sep 2, 2020
Charcot-Marie-Tooth disease, type 4B11Sep 2, 2020
Charlevoix-Saguenay spastic ataxia1May 29, 2015
Cholestanol storage disease1Jan 19, 2017
Chondrodysplasia with joint dislocations, GPAPP type1Sep 2, 2020
Ciliary dyskinesia, primary, 151Sep 2, 2020
Ciliary dyskinesia, primary, 281Sep 2, 2020
Citrullinemia type I1Sep 2, 2020
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Jan 19, 2017
Classic homocystinuria1May 29, 2015
Cleft palate2Sep 2, 2020
Clinodactyly of the 5th finger1Sep 2, 2020
Coarse facial features1Sep 2, 2020
Cobalamin C disease1May 29, 2015
Cockayne syndrome B1May 29, 2015
Coffin-Siris syndrome 11Sep 2, 2020
Cohen syndrome1Sep 2, 2020
Colorectal cancer 102Aug 10, 2016
Colorectal cancer, susceptibility to, 128Sep 2, 2020
Combined malonic and methylmalonic aciduria1Sep 2, 2020
Combined oxidative phosphorylation deficiency 101Sep 2, 2020
Combined oxidative phosphorylation deficiency 151Sep 2, 2020
Combined oxidative phosphorylation deficiency 201Sep 2, 2020
Common variable immunodeficiency 21Sep 2, 2020
Cone-rod dystrophy 32Aug 10, 2016
Congenital disorder of glycosylation type 1C1Aug 10, 2016
Congenital disorder of glycosylation, type Ia1Sep 2, 2020
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2Aug 10, 2016
Costello syndrome1Sep 2, 2020
Cystic fibrosis1Aug 10, 2016
Cystinuria5Jan 19, 2017
Deafness, autosomal recessive1Sep 2, 2020
Deafness, autosomal recessive 161May 29, 2015
Deafness, autosomal recessive 1A9Sep 2, 2020
Deafness, autosomal recessive 221Aug 10, 2016
Deafness, autosomal recessive 421Sep 2, 2020
Deafness, autosomal recessive 71May 29, 2015
Deafness, autosomal recessive 82Aug 10, 2016
Deafness, autosomal recessive 84b1Sep 2, 2020
Deafness, autosomal recessive 941Sep 2, 2020
Deafness, autosomal recessive 981Sep 2, 2020
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1May 29, 2015
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Aug 10, 2016
Deficiency of butyryl-CoA dehydrogenase1May 29, 2015
Delayed gross motor development3Sep 2, 2020
Delayed speech and language development5Sep 2, 2020
Depressed nasal bridge1Sep 2, 2020
Diarrhea 4, malabsorptive, congenital2Sep 2, 2020
Dilated cardiomyopathy 1DD1Aug 10, 2016
Dilated cardiomyopathy 1G3Aug 10, 2016
Dilated cardiomyopathy 1S1Aug 10, 2016
Dilated cardiomyopathy 3B2Aug 10, 2016
Duchenne muscular dystrophy2Aug 10, 2016
Dysarthria1Sep 2, 2020
Dysphagia1Sep 2, 2020
Dystonia 231Sep 2, 2020
Early infantile epileptic encephalopathy 101Sep 2, 2020
Early infantile epileptic encephalopathy 181Sep 2, 2020
Early infantile epileptic encephalopathy 341Sep 2, 2020
Early infantile epileptic encephalopathy 591Sep 2, 2020
Eczema2Sep 2, 2020
Ehlers-Danlos syndrome, musculocontractural type1Sep 2, 2020
Ehlers-Danlos syndrome, type 42Aug 10, 2016
Eichsfeld type congenital muscular dystrophy1Sep 2, 2020
Epicanthus1Sep 2, 2020
Epidermolysis bullosa junctionalis with pyloric atresia1Aug 10, 2016
Epidermolysis bullosa simplex, Ogna type1Sep 2, 2020
Epileptic encephalopathy1Sep 2, 2020
Epileptic encephalopathy, early infantile, 232Sep 2, 2020
Epileptic encephalopathy, early infantile, 31Sep 2, 2020
FRAXE1May 29, 2015
Factor V deficiency1Sep 2, 2020
Factor VII deficiency1Sep 2, 2020
Factor XIII deficiency1Sep 2, 2020
Failure to thrive2Sep 2, 2020
Familial Mediterranean fever1May 29, 2015
Familial adenomatous polyposis 12Aug 10, 2016
Familial hypercholesterolemia 12Aug 10, 2016
Familial hypertrophic cardiomyopathy 11Aug 10, 2016
Familial hypertrophic cardiomyopathy 101Aug 10, 2016
Familial hypertrophic cardiomyopathy 21Aug 10, 2016
Familial hypertrophic cardiomyopathy 43Aug 10, 2016
Familial hypertrophic cardiomyopathy 93Aug 10, 2016
Familial hypokalemia-hypomagnesemia1Sep 2, 2020
Fanconi anemia3Sep 2, 2020
Fanconi anemia, complementation group A3Sep 2, 2020
Fanconi anemia, complementation group D11May 29, 2015
Farber disease1Sep 2, 2020
Feeding difficulties1Sep 2, 2020
Fraser syndrome 21Sep 2, 2020
Fraser syndrome 31Sep 2, 2020
GNE myopathy1Aug 10, 2016
Gait disturbance1Sep 2, 2020
Gastroesophageal reflux1Sep 2, 2020
Gastrointestinal stromal tumor1Aug 10, 2016
Gaucher's disease, type 12Aug 10, 2016
Generalized epilepsy with febrile seizures plus, type 71Sep 2, 2020
Generalized hypotonia5Sep 2, 2020
Generalized muscle weakness1Sep 2, 2020
Ghosal hematodiaphyseal dysplasia1Sep 2, 2020
Gilbert's syndrome1Aug 10, 2016
Global developmental delay6Sep 2, 2020
Glucocorticoid deficiency 51Sep 2, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1May 29, 2015
Glycogen storage disease due to hepatic glycogen synthase deficiency1Aug 10, 2016
Glycogen storage disease type III2Sep 2, 2020
Glycogen storage disease, type II4Sep 2, 2020
Glycogen storage disease, type V1Aug 10, 2016
Growth delay1Sep 2, 2020
Hearing impairment1Sep 2, 2020
Hearing loss2Sep 2, 2020
Heart, malformation of1Sep 2, 2020
Hemangioma1Sep 2, 2020
Hemochromatosis type 12Aug 10, 2016
Hennekam lymphangiectasia-lymphedema syndrome 21Sep 2, 2020
Hereditary Mixed Polyposis1Aug 10, 2016
Hereditary Paraganglioma-Pheochromocytoma Syndromes1Aug 10, 2016
Hereditary cancer-predisposing syndrome19Sep 2, 2020
Hereditary diffuse gastric cancer3Aug 10, 2016
Hereditary factor VIII deficiency disease1Aug 10, 2016
Hereditary factor XI deficiency disease1Aug 10, 2016
Hereditary hemorrhagic telangiectasia type 11Aug 10, 2016
Hereditary nonpolyposis colorectal cancer type 43Aug 10, 2016
Hereditary nonpolyposis colorectal cancer type 81Aug 10, 2016
Hereditary spastic paraplegia 151Sep 2, 2020
Hereditary spastic paraplegia 261Sep 2, 2020
Hereditary spastic paraplegia 3A1Sep 2, 2020
Hereditary spastic paraplegia 71May 29, 2015
Herpes simplex encephalitis, susceptibility to, 41Sep 2, 2020
Hurler syndrome2Sep 2, 2020
Hydrolethalus syndrome 11Aug 10, 2016
Hypercalcemia, infantile, 11Sep 2, 2020
Hypercholesterolaemia1Sep 2, 2020
Hyperimmunoglobulin D with periodic fever1Aug 10, 2016
Hyperphenylalaninemia, BH4-deficient, D1Aug 10, 2016
Hyperphosphatasia with mental retardation syndrome 22Sep 2, 2020
Hypertrophic cardiomyopathy6Sep 2, 2020
Hypobetalipoproteinemia, familial, 13Sep 2, 2020
Hypoparathyroidism-retardation-dysmorphism syndrome1Aug 10, 2016
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Sep 2, 2020
Ichthyosis, congenital, autosomal recessive 4B (harlequin)1Sep 2, 2020
Impulsivity1Sep 2, 2020
Infantile nephronophthisis1Aug 10, 2016
Inherited bleeding disorder, platelet-type1Sep 2, 2020
Intellectual disability3Sep 2, 2020
Isovaleryl-CoA dehydrogenase deficiency1Sep 2, 2020
Joint hypermobility1Sep 2, 2020
Joubert syndrome 241Sep 2, 2020
Joubert syndrome 271Sep 2, 2020
Joubert syndrome 281Sep 2, 2020
Joubert syndrome 321Sep 2, 2020
Joubert syndrome 54Jan 19, 2017
Junctional epidermolysis bullosa gravis of Herlitz1Aug 10, 2016
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1Aug 10, 2016
KBG syndrome1Sep 2, 2020
Kohlschutter's syndrome1Sep 2, 2020
Lafora disease1Jan 19, 2017
Lamb-shaffer syndrome1Sep 2, 2020
Large hands1Sep 2, 2020
Leber congenital amaurosis 101May 29, 2015
Leber congenital amaurosis 151Aug 10, 2016
Leber congenital amaurosis 41Jan 19, 2017
Left ventricular hypertrophy1Sep 2, 2020
Left ventricular noncompaction 103Aug 10, 2016
Left ventricular noncompaction 61Aug 10, 2016
Left ventricular noncompaction 81Sep 2, 2020
Lethal multiple pterygium syndrome1Aug 10, 2016
Leukoencephalopathy with vanishing white matter2Sep 2, 2020
Limb-girdle muscular dystrophy, type 2L1Sep 2, 2020
Limb-girdle muscular dystrophy, type 2Q1Sep 2, 2020
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41Sep 2, 2020
Loeys-Dietz syndrome1Aug 10, 2016
Loeys-Dietz syndrome 11Aug 10, 2016
Loeys-Dietz syndrome 31Aug 10, 2016
Loeys-Dietz syndrome 43Aug 10, 2016
Long QT syndrome 11Aug 10, 2016
Long QT syndrome 22Aug 10, 2016
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1Aug 10, 2016
Low anterior hairline1Sep 2, 2020
Low-set ears2Sep 2, 2020
Lynch syndrome1Aug 10, 2016
Lynch syndrome I5Aug 10, 2016
Lysinuric protein intolerance1Sep 2, 2020
MYH-associated polyposis2Aug 10, 2016
Macrocephalus1Sep 2, 2020
Macular dystrophy, vitelliform, 51Sep 2, 2020
Malignant hyperthermia1Sep 2, 2020
Malignant hyperthermia, susceptibility to, 15Aug 10, 2016
Malignant hyperthermia, susceptibility to, 55Aug 10, 2016
Mandibulofacial dysostosis with mental deficiency1Aug 10, 2016
Maple syrup urine disease type 21Sep 2, 2020
Marfan syndrome1Aug 10, 2016
Meckel syndrome, type 42Sep 2, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Sep 2, 2020
Mental retardation with language impairment and with or without autistic features1Sep 2, 2020
Mental retardation, autosomal dominant 131Sep 2, 2020
Mental retardation, autosomal recessive 11Sep 2, 2020
Mental retardation, autosomal recessive 31Sep 2, 2020
Mental retardation, autosomal recessive 421Sep 2, 2020
Merosin deficient congenital muscular dystrophy1Aug 10, 2016
Metachromatic leukodystrophy1Sep 2, 2020
Methylmalonyl-CoA epimerase deficiency1Sep 2, 2020
Microcephaly1Sep 2, 2020
Microcephaly and chorioretinopathy, autosomal recessive, 11Sep 2, 2020
Microcytic anemia1Sep 2, 2020
Micrognathia2Sep 2, 2020
Miller syndrome1Sep 2, 2020
Mitochondrial DNA depletion syndrome 21Aug 10, 2016
Mononeuropathy of the median nerve, mild2Sep 2, 2020
Motor delay1Sep 2, 2020
Mucopolysaccharidosis type 61Sep 2, 2020
Mucopolysaccharidosis, MPS-I-H/S1Sep 2, 2020
Mucopolysaccharidosis, MPS-III-A1Sep 2, 2020
Muscular dystrophy, limb-girdle, autosomal recessive 232Sep 2, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12Aug 10, 2016
Muscular hypotonia8Sep 2, 2020
Myeloperoxidase deficiency1Sep 2, 2020
Myoclonus1Sep 2, 2020
Myopathy, lactic acidosis, and sideroblastic anemia 11Aug 10, 2016
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1Sep 2, 2020
Nemaline myopathy 11, autosomal recessive1Sep 2, 2020
Nemaline myopathy 23Sep 2, 2020
Nephropathic cystinosis1Jan 19, 2017
Neu-Laxova syndrome 11Sep 2, 2020
Neurodevelopmental disorder with involuntary movements1Sep 2, 2020
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Sep 2, 2020
Neurofibromatosis, type 21Aug 10, 2016
Neurological speech impairment5Sep 2, 2020
Neuronal ceroid lipofuscinosis 81Sep 2, 2020
Niemann-Pick disease, type A1Jan 19, 2017
Non-ketotic hyperglycinemia1Aug 10, 2016
Nonsyndromic Deafness3Sep 2, 2020
Noonan syndrome 81Sep 2, 2020
Nystagmus2Sep 2, 2020
Oguchi's disease1Aug 10, 2016
Osteogenesis imperfecta type 71May 29, 2015
Pain1Sep 2, 2020
Patent ductus arteriosus1Sep 2, 2020
Pelviscapular dysplasia1Sep 2, 2020
Pendred syndrome1Aug 10, 2016
Peripheral neuropathy1Sep 2, 2020
Peroxisome biogenesis disorder 9B1Aug 10, 2016
Peters plus syndrome1Sep 2, 2020
Phenylketonuria5Sep 2, 2020
Pheochromocytoma, susceptibility to1Aug 10, 2016
Pigmented paravenous chorioretinal atrophy1Sep 2, 2020
Plasminogen deficiency, type I1Aug 10, 2016
Pontocerebellar hypoplasia type 61Sep 2, 2020
Porokeratosis 3, disseminated superficial actinic type1Sep 2, 2020
Primary autosomal recessive microcephaly 71Sep 2, 2020
Primary dilated cardiomyopathy2Sep 2, 2020
Primary hyperoxaluria, type I1May 29, 2015
Progressive sclerosing poliodystrophy3Sep 2, 2020
Prolidase deficiency1Sep 2, 2020
Protoporphyria, erythropoietic, 11Jan 19, 2017
Pyridoxal phosphate-responsive seizures1May 29, 2015
Pyruvate carboxylase deficiency1Sep 2, 2020
Pyruvate kinase deficiency of red cells1Aug 10, 2016
Recessive dystrophic epidermolysis bullosa2Aug 10, 2016
Renal insufficiency1Sep 2, 2020
Retinitis pigmentosa 141Aug 10, 2016
Retinitis pigmentosa 251Aug 10, 2016
Retinitis pigmentosa 411Aug 10, 2016
Rett syndrome4Sep 2, 2020
Rhizomelic chondrodysplasia punctata type 11Aug 10, 2016
Sandhoff disease1Sep 2, 2020
Seckel syndrome 61Sep 2, 2020
Seckel syndrome 71Sep 2, 2020
Seizures3Sep 2, 2020
Senior-Loken syndrome 61May 29, 2015
Short QT Syndrome 41Aug 10, 2016
Short QT Syndrome 52Aug 10, 2016
Short QT syndrome 12Aug 10, 2016
Short QT syndrome 21Aug 10, 2016
Short stature3Sep 2, 2020
Short-rib thoracic dysplasia 8 with or without polydactyly1Sep 2, 2020
Shwachman syndrome1Sep 2, 2020
Sialic acid storage disease, severe infantile type1Sep 2, 2020
Smith-Lemli-Opitz syndrome2Sep 2, 2020
Spastic paraplegia 45, autosomal recessive1Sep 2, 2020
Spinocerebellar ataxia 381Sep 2, 2020
Spondyloepiphyseal dysplasia tarda1May 29, 2015
Stargardt disease 12Jan 19, 2017
Steinert myotonic dystrophy syndrome1Aug 10, 2016
Suxamethonium sensitivity1Aug 10, 2016
Tapered finger1Sep 2, 2020
Tay-Sachs disease1Aug 10, 2016
Temtamy syndrome1Sep 2, 2020
Tetralogy of Fallot1Sep 2, 2020
Thick upper lip vermilion1Sep 2, 2020
Thrombophilia due to activated protein C resistance1Aug 10, 2016
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1Sep 2, 2020
Thyroid dyshormonogenesis 61Sep 2, 2020
Tremor1Sep 2, 2020
Trichorhinophalangeal dysplasia type I1Sep 2, 2020
Trichothiodystrophy 1, photosensitive1Aug 10, 2016
Tuberous sclerosis 23Aug 10, 2016
Tyrosine kinase 2 deficiency1Sep 2, 2020
Tyrosinemia type I1Aug 10, 2016
Ullrich congenital muscular dystrophy 11Sep 2, 2020
Unverricht-Lundborg syndrome2Sep 2, 2020
Upshaw-Schulman syndrome1Aug 10, 2016
Usher syndrome1Sep 2, 2020
Usher syndrome, type 2A1Aug 10, 2016
Usher syndrome, type 2C1Jan 19, 2017
Ventricular tachycardia, catecholaminergic polymorphic, 21Aug 10, 2016
Very long chain acyl-CoA dehydrogenase deficiency2Jan 19, 2017
Vici syndrome2Sep 2, 2020
Vitamin B12-responsive methylmalonic acidemia type cblA1Sep 2, 2020
Von Hippel-Lindau syndrome1Aug 10, 2016
Wiedemann-Steiner syndrome1Sep 2, 2020
Wilson disease2Sep 2, 2020
Xeroderma pigmentosum, group D1Aug 10, 2016
Xeroderma pigmentosum, group F1Sep 2, 2020
beta Thalassemia2Aug 10, 2016
not provided58Sep 2, 2020
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