Global Variome shared LOVD

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

Phenotype #0000155205 Individual ID 00207426 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y05m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 04y03m Phenotype/Onset - Phenotype details Outcome at age 05y02m: Severely affected (bedridden, tube feeding required); Symptoms: Regression (HP:0002376), dystonia (HP:0001332); Precipitating factor: Fever of unknown origin; Neuroimaging: frontotemporal atrophy, striatum signal abnormalities; Protein - Biochem GA(urine): high, glutarylcarnitine(dried blood spot): 0.38nmol/ml Enzyme/Activity Not determined Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-22 10:17:50 +01:00 (CET) Date last edited N/A

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