Global Variome shared LOVD

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

Phenotype #0000171455 Individual ID 00226337 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 00y12m (12 months) Diagnosis/Definite - Age/Diagnosis 00y00m06d Phenotype/Onset - Phenotype details Clinical history: Postnatally suspicion of neonatal infection; At age 07m15d: hospitalization because of pyelonephritis; At age 11m: hospitalization because of upper respiratrory tract infection; At age 12m: normal development; MRI(age 03m15d): mildly retarded myelination, relative enlargement of Sylvian fissure, subarachnoid space and cerebral ventricles Protein - Biochem Evaluation partly impaired by high dilution of urine samples! GA(urine): normal; 3-OH-GA(urine): trace; glutarylcarnitine: 1.03 µmol/l Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-03-08 13:14:20 +01:00 (CET) Date last edited N/A

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