Global Variome shared LOVD

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

Phenotype #0000344292 Individual ID 00455759 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y11m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details age at onset: 11m; neurological phenotype: severe; head circumfence (z-score): –; developmental quotient/global intelligence quitient on follow-up: 40, outcome: alive; Imaging: widened Sylvian fissure, classic bat wing appearences, grey matter lesions, white matter hyperintensities; Protein - Biochem urine GA – x elevation, urine glutaconic acid – fold elevation, urine 3-OH-GA – fold elevation, blood glutaryl carnitine 0.72 0.91, blood palmitoyl carnitine 0.1 µmol/l, C5DC/C16 ratio 2.5 Enzyme/Activity - Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2024-10-19 15:17:30 +02:00 (CEST) Date last edited N/A

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