Phenotype #0000000571

Individual ID 00001139
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 00y10m (10 months)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details developmental delay, large head size, MRI: large amounts of bilateral subdural fluid collection, cerebral atrophy, high signal intensity in both basal ganglia
Protein -
Biochem 3-OH-GA(urine): 67.6 mmol/mol creatinine (c: <4.2); GA(urine): 7360.9 mmol/mol creatinine (c: <5.3))
Enzyme/Activity -
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 2013-11-20 16:02:42 +01:00 (CET)

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