Phenotype #0000000542

Individual ID 00001110
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 00y00m17d
Phenotype/Onset -
Phenotype details Normal motor and mental development; At latest follow-up (age 13y): asymptomatic;
MRI: Immature pattern of gyration and myelination in combination with subependymal pseudocysts, wide anterior temporal and sylvian CSF spaces
Protein -
Biochem GA(urine): 4509mmol/mol creatinine; 3-OH-GA(urine): 128mmol/mol creatinine
Enzyme/Activity Residual activity: 1%
Owner name Katrin Hinderhofer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2013-04-17 17:21:21 +02:00 (CEST)
Date last edited 2018-12-18 11:52:15 +01:00 (CET)

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