Global Variome shared LOVD

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

Phenotype #0000144022 Individual ID 00183281 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 02y04m (2 years, 4 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Normaly affected, Symptoms: Macrocephaly (HP:0000256), Developm. normal; Brain CT at age 01y1m & 01y04m:bilateral fronto-temporal atrophy, arachnoid cysts, subdural fluid collections Protein - Biochem GA(urine):6811 mmol/mol creatinine; 3-OH-GA(urine):160mmol/mol creatinine; plasma free carnitine:2,3µmol/L; total carnitine:5,5µmol/L; glutarylcarnitine(blood):0,57µmol/L Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-10-22 15:14:07 +02:00 (CEST) Date last edited 2018-11-22 10:38:19 +01:00 (CET)

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