Phenotype #0000000551

Individual ID 00001119
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 03y01m
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 03y01m
Phenotype/Onset Acute onset: Acute encephalopathic crisis (HP:0006846)
Phenotype details Severe movement disorder
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 2019-02-12 13:58:20 +01:00 (CET)

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