Phenotype #0000000556

Individual ID 00001124
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 02y
Phenotype/Onset -
Phenotype details Macrocephaly (HP:0000256); At latest follow-up (26y): asymptomatic;
MRI (22y): two subependymal lesions, white matter changes, fronto-temporal hypoplasia (for detailed information see full text); MRI(after initiation of treatment): subependymal nodules
Protein -
Biochem GA(urine): 2670mmol/mol creatinine; 3-OH-GA(urine): elevated (no quantification)
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 2019-05-15 12:21:44 +02:00 (CEST)

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