Global Variome shared LOVD

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Phenotype #0000166827 Individual ID 00218393 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 06y02m (6 years, 2 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Encephalopathic crisis (HP:0006846) at age ̴ 01y02m after two days of decreased appetite at home during bronchopneumonia with following seizures (HP:0001250), dystonia (HP:0001276), dyskinesia (HP:0100660), developmental regression (HP:0002376); Outcome thereafter: wheelchair bound (HP:0002540); MRI (age ≤ 03m15d): Widening of Sylvian fissure; MRI (just after enceph. crisis): Widening of Sylvian fissure,T2 hyperintensity in putamen, caudate nucleus, globus pallidus and supratentorial white matter; MRI (long-term follow-up after enceph. crisis): Widening of Sylvian fissure, T2 hyperintensity in putamen, globus pallidus and supratentorial white mattter, (for more details on MRI see full text) Protein - Biochem GA(urine) & 3-OH-GA(urine): elevated; glutarylcarnitine: 0.57µM Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-25 14:54:02 +01:00 (CET) Date last edited N/A

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