Global Variome shared LOVD

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

Phenotype #0000166825 Individual ID 00218389 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 01y (1 year) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details ncephalopathic crisis (HP:0006846) at age 05m after several days of poor intake at home with following dystonia (HP:0001276), seizures (HP:0001250), developmental delay (HP:0001263); 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, (for more details on MRI see full text) Protein - Biochem GA(urine) & 3-OH-GA(urine): elevated; glutarylcarnitine: 3.15µM Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-25 13:46:38 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.