Global Variome shared LOVD

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

Phenotype #0000000378 Individual ID 00000946 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Asymptomatic; CT: fronto-temporal atrophy Protein - Biochem GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency Enzyme/Activity - Owner name Katrin Hinderhofer Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2013-04-17 17:21:21 +02:00 (CEST) Date last edited 2025-01-08 14:25:52 +01:00 (CET)

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