Global Variome shared LOVD

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

Phenotype #0000166824 Individual ID 00218388 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 01y01m (1 year, 1 month) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Macrocephaly (HP:0000256), very mild involuntary movement (HP:0004305), unstable gait (HP:0001288) (without following disability), studied at mainstream schools; MRI(follow-up): T2 hyperintensity in supratentorial white matter, (for more details on MRI see full text) Protein - Biochem A(urine) & 3-OH-GA(urine): elevated; glutarylcarnitine: 1.57µM Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-01-25 13:40:15 +01:00 (CET) Date last edited N/A

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