Global Variome shared LOVD

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

Phenotype #0000015122 Individual ID 00016507 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details progressive generalized dystonia that affects face, neck, trunk and both upper and lower limbs; unable to walk; spasmodic dysphonia; MRI: altered signal in lenticular nuclei with bilateral and symmetrical distribution, T2- and flair-weighted prolongation in both putamen Protein - Biochem 3-OH-GA(urine): 57.1 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 10:50:03 +02:00 (CEST) Date last edited N/A

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