Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000155204 Individual ID 00207425 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y05m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y07m Phenotype/Onset - Phenotype details Outcome at age 07y: Severely affected (bedridden, tube feeding required); Symptoms: Regression (HP:0002376), dystonia (HP:0001332); Precipitating factor: Kawasaki disease; Neuroimaging: frontotemporal atrophy, striatum signal abnormalities Protein - Biochem GA(urine): high, glutarylcarnitine(dried blood spot): 1.76nmol/ml Enzyme/Activity ≤ 5% (lymphoblasts and cultured fibroblasts) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-22 10:03:45 +01:00 (CET) Date last edited 2018-11-22 15:24:19 +01:00 (CET)

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