Global Variome shared LOVD

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

Phenotype #0000343277 Individual ID 00454636 Associated disease GA1 Inheritance Unknown Age/Onset 00y05m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y07m Phenotype/Onset - Phenotype details symptomatic; age of onset 0.41y; triggering event: infection; Clinical symptoms: hydrocephaly; Phenotype: macrocephaly, severe motor-mental retardation; IMaging: CT MRI typical; Protein - Biochem Glutaric acid excretion increased; Tandem C0 decreased 6.67 µmol/l; tandem C5DC increased 1.44 µmol/l Enzyme/Activity - Owner name Sabrina Oeser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Sabrina Oeser Date created 2024-09-22 12:47:30 +02:00 (CEST) Date last edited N/A

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