Global Variome shared LOVD

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Phenotype #0000000625 Individual ID 00001193 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y00m08d Phenotype/Onset - Phenotype details Normal motor and mental development (sitting: 06m, standing: 01ym01m, walking: 01y05m; fluent in Italian and German at age 05y); At latest follow-up (age 14y06my): asymptomatic; MRI: Widened enterior temporal CSF spaces and sylvian fissures (normalization in later controls), delayed myelination (completed in later controls), slow evolution of white matter abnormalities and significant regression of the initial pallidal T2 hyperintensity Protein - Biochem GA(urine):3695mmol/mol creatinine; 3-0H-GA(urine): 77mmol/mol creatinine Enzyme/Activity Residual activity: 1% 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 2019-02-12 12:01:43 +01:00 (CET)

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