Global Variome shared LOVD

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

Phenotype #0000002903 Individual ID 00004163 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y03m Diagnosis/Initial - Age/Examination 04y (4 years) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details normal head size; truncal hypotonia with choreodystonic quadraparesia; orofacial dyskinesia; good fine motor skills; normal intelligence; cranial MRI showed a high T2 signal in the lenticular nucleus Protein - Biochem 3-OH-GA(urine): 36.0 mmol/mol creatinine (c: 2-11); GA(urine): 19.6 mmol/mol creatinine (c: 2.0-2.4) Enzyme/Activity GCDH activity (fibroblasts): 30% of controls Owner name Svenja Wagner Database submission license No license selected Created by Svenja Wagner Date created 2014-01-10 13:55:52 +01:00 (CET) Date last edited 2014-04-02 15:03:27 +02:00 (CEST)

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