Phenotype #0000000561

Individual ID 00001129
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 00y00m07d
Phenotype/Onset -
Phenotype details classic disease course, two encephalopathic crisis at ages 01m & 05m, mild 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 2019-07-25 10:42:27 +02:00 (CEST)

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