Global Variome shared LOVD

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

Phenotype #0000155180 Individual ID 00207408 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y01m Phenotype/Onset - Phenotype details Outcome at age 04m: Normal developm.; No signs of neurologic complications evident during examinations at 04m, 05y and 07y; Neuroimaging: frontotemporal atrophy, striatum signal abnormalities Protein - Biochem GA(urine): high, glutarylcarnitine(dried blood spot): 1.08nmol/ml Enzyme/Activity Not determined Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-21 16:33:37 +01:00 (CET) Date last edited N/A

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