Global Variome shared LOVD

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

Phenotype #0000155253 Individual ID 00207475 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y00m11d Phenotype/Onset Insidious onset Phenotype details Symptoms: Delayed gross motor developm. (HP:0002194) --> At 12m: Begin of mild movement disorder with predominant dystonia (HP:0001276), resulting in mild to moderate gait disturbance, dysarthria (HP:0001260) and dysphagia (HP:0001215), Walking alone at 01y10m; MRI: Signal changes in dorso-lateral putamen Protein - Biochem Low excretor; newborn screening: glutarylcarnitine:0.17µmol/l Enzyme/Activity Residual activity: 25% Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-23 13:30:00 +01:00 (CET) Date last edited 2019-02-12 12:46:33 +01:00 (CET)

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