Global Variome shared LOVD

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

Phenotype #0000155446 Individual ID 00207657 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Cause of consultation: Intercurrent infective episode with acute hypotonia of lower limbs (HP:0001252) and limb dystonia (HP:0002451); Symptoms at 01y09m: Dystonic movements of upper limbs (HP:0001276), marked hypertonia of trunk (HP:0001276) and lower limbs (HP:0006895), swallowing difficulties with necessity for nasogastral tube for 06m; MRI (at diagnosis): Bilateral striatal necrosis; MRI(later life): Same as before Additional disease: Diabetes mellitus type 1 (HP:0100651) (starting at age 01y03m) Protein - Biochem GA(urine): 1.3 mmol/mol creatinine; carnitine(plasma): 14.5 µmol/ Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-27 12:10:02 +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.