Global Variome shared LOVD

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

Phenotype #0000155442 Individual ID 00207653 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 24y Phenotype/Onset - Phenotype details Medical history: Had been medically followed betweeen ages 01y03m to 10y beacuse of macrocephaly (HP:0000256), hypotonia (HP:0001252) and learning disability (graduation in regular school with special teaching support); Symptoms at age 24y: Physical examination unremarkable, moderate mental deficit (IQ 75 (WAIS)) (HP:0002342); MRI: Typical features of GA 1 Protein - Biochem GA(urine):2,051µmol/mmol creatinine; 3-OH-GA(urine):increased; hypocarnitinemia (1.7µmol/L) Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-27 10:50:59 +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.