Global Variome shared LOVD

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

Phenotype #0000157456 Individual ID 00208848 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 29y Phenotype/Onset - Phenotype details Symptoms at diagnosis: asymptomatic; At latest follow-up (age 40y): headaches (HP:0002315), coordination deficits (HP:0002370), cognitive disability (HP:0100534); MRI (at diagnosis): white matter changes, frontotemporal hypoplasia (for detailed information see full text) Protein - Biochem GA(urine):1527mmol/mol creatinine; 3-OH-GA(urine): 94mmol/mol creatinine Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-12-18 14:07:09 +01:00 (CET) Date last edited 2018-12-18 14:35:38 +01:00 (CET)

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