Phenotype #0000000548

Individual ID 00001116
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 00y06m (6 months)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details classic disease course, severe disability
Protein -
Biochem High excretor
Enzyme/Activity GCDH activity: 0% of controls
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 2019-02-22 11:44:17 +01:00 (CET)

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