Global Variome shared LOVD

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

Phenotype #0000155593 Individual ID 00207811 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Acute striatal injury at age 03m Protein - Biochem GA(urine): normal; 3-OH-GA(urine):lowor intermediate; glutarylcarnitine(NBS):not available Enzyme/Activity 15% Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-30 15:53:56 +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.