Global Variome shared LOVD

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

Phenotype #0000333409 Individual ID 00444155 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y01m? Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y01m? Phenotype/Onset - Phenotype details age of onset 01w; detected in NBS assymptomatic Protein - Biochem glutaric acid 2,006 mmol/mol creatinine, 3-hydrohyglutaric acid n.d., C5DC 2.09 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 2023-12-19 16:27:36 +01:00 (CET) Date last edited 2023-12-19 16:32:31 +01:00 (CET)

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