Global Variome shared LOVD

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

Phenotype #0000166828 Individual ID 00218394 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 05y09m (5 years, 9 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Seizures (HP:0001250) after two days of reduced appetite at home (since then frequent myoclonic jerks), developmental delay (HP:0001263); MRI (age ≤ 03m15d): Widening of Sylvian fissure; MRI(follow-up): T2 hyperintensity in supratentorial white matter, (for more details on MRI see full text) Protein - Biochem GA(urine) & 3-OH-GA(urine): elevated; glutarylcarnitine: 1.84µM Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-25 14:58:56 +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.