Global Variome shared LOVD

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

Phenotype #0000155500 Individual ID 00207709 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y03m Diagnosis/Initial - Age/Examination 23y (23 years) Diagnosis/Definite - Age/Diagnosis 13y Phenotype/Onset Macrocephaly (HP:0000256), acute encephalopathy (HP:0006846), seizure (HP:0001250), irritability (HP:0000737), dystonia (HP:0001276), subdural effusion, hydrocephalus; No precipitating illness Phenotype details Diesease course: Severe motor disability (wheelchair dependent (HP:0002540), severe disability in everyday life), dystonia (HP:0007325), absent speech (HP:0001344); Neuroimaging: Bilateral widening of Sylvian fissures, atrophy over frontotemporal regions, hydrocephalus Protein - Biochem GA(urine): increased; glutarylcarnitine(dried blood spot): 0.38µmol/L Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-29 13:04:38 +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.