Global Variome shared LOVD

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

Phenotype #0000155246 Individual ID 00207467 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 01y04m Phenotype/Onset - Phenotype details Severely affected; Symptoms at diagnosis: Developm. delay (HP:0001263), dystonia (HP:0001276); Neuroimaging: Typical (= varying degrees of macrocephaly, fronto-temporal brain atrophy, widened and fluid-filled pre-temporal and Sylvian fissures, extracerebral fluid collections, white matter changes and basal ganglia lesions) Protein - Biochem GA(urine): 625 µmol/mmol creatinine; 3-OH-GA(urine): 96.3 µmol/mmol creatinine Enzyme/Activity Not done Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-23 10:19:07 +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.