Global Variome shared LOVD

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

Phenotype #0000333500 Individual ID 00444247 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y05m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details trigger: none; Clinical findings: acute encephalopathy, dystoia, no seizure, cognitive delay, motor regression, macrocephaly; Imaging: enlarged frontoparietotemporal space Protein - Biochem glutaric acid 3,402.2 mmol/mol creatinine, 3-hydrohyglutaric acid 97 mmol/mol creatinine, C5DC 3.04 µmol/l Enzyme/Activity not reported Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2023-12-21 15:56:40 +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.