Global Variome shared LOVD

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

Phenotype #0000000541 Individual ID 00001109 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y00m07d Phenotype/Onset - Phenotype details macrocephaly, mild-mental retardation, MRI: severe, symmetrical widening of anterior CSF spaces and sylvian fissures, progressive grey matter abnormalities, white matter: delayed myelination; T2 hyperintensity of periventricular, lobar white matter, central tegmental tracts; neurologically asymptomatic patient Protein - Biochem High excretor Enzyme/Activity GCDH activity: 1% of controls Owner name Katrin Hinderhofer Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2013-04-17 17:21:21 +02:00 (CEST) Date last edited 2019-02-22 11:38:59 +01:00 (CET)

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