Global Variome shared LOVD

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Phenotype #0000144049 Individual ID 00183309 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 30y (30 years) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Mildly affected, Symptoms: Physical and neurological examination normal, IQ borderline; Neuroimaging: Patchy signal changes in corpus callosum with contrast enhanced wart-like mass lesions (extending from ependymal lining into lateral ventricles) reminiscent of subependymal nodules in tuberous sclerosis (patient showed no cutaneous stigmatat of tuberous sclerosis, nature & significance remains uncertain) Protein - Biochem GA(urine):728mmol/mol creatinine; 3-OH-GA(urine):49mmol/mol creatinine; plasma free carnitine:4,7µmol/L; total carnitine:7,9µmol/L; glutarylcarnitine(blood):1,01µmol/L Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-10-22 17:19:43 +02:00 (CEST) Date last edited 2018-11-22 10:51:56 +01:00 (CET)

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