Phenotype #0000000607

Individual ID 00001175
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 01y06m
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details severely dystonic and restless after an upper respiratory infection; after this episode: loss of most of her motor skills
Protein -
Biochem GA (urine): 27-50 mol/mmol creatinine (c: 2.4 ± 2.0 µmol/mmol creatinine)
Enzyme/Activity GCDH activity (fibroblasts and leukocytes): 3-6% 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 2013-12-19 12:28:55 +01:00 (CET)

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