Global Variome shared LOVD

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

Phenotype #0000015124 Individual ID 00016509 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details progressive generalized dystonia; unable to walk; dystonic language; MRI: bilateral lenticular altered signal Protein - Biochem 3-OH-GA(urine): 58.3 mmol/mol creatinine, normal GA value in urine Enzyme/Activity - Owner name Svenja Wagner Database submission license No license selected Created by Svenja Wagner Date created 2014-04-29 11:06:04 +02:00 (CEST) Date last edited N/A

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