Global Variome shared LOVD

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

Phenotype #0000000593 Individual ID 00001161 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 02y06m (2 years, 6 months) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details neurological crisis, very hypotonic, wheelchair- dependent, responds with appropriate facial expresions, absent speech, severe intellectual disability, maximum head circumference 50th-75th centile at 8 months; MRI: diffuse abnormal signal bilateral basal ganglia Protein - Biochem increased 3-OH-GA and GA in the urine Enzyme/Activity GCDH activity (fibroblasts): 10% 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 2013-12-17 10:09:27 +01:00 (CET)

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