Global Variome shared LOVD

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

Phenotype #0000155406 Individual ID 00207595 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y00m07d Phenotype/Onset - Phenotype details Symptoms: Despite early treatment and no encephalopathic crisis: Axial hypotonia (HP:0009062), motor retardation (HP:0001270) (sitting at 15m, crawling at 18m), feeding problems (HP:0011968), at 01y07m: gastroenteritis with 3 days delayed emergency treatment --> Somnolence, tonic seizures, worsening of axial hypotonia, orofacial dyskinesia (HP:0002310), dystonia of all extremities (HP:0002451); MRI (01y05m): Signal changes in dorso-lateral putamen, MRI(01y7m): Expansion of striatal signal changes, MRI(02y01m): Striatal atrophy Protein - Biochem Newborn screening: glutarylcarnitine:0.44µmol/l, urinary organic acid analysis: Low excretor Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-26 13:13:24 +01:00 (CET) Date last edited N/A

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