Phenotype #0000174754

Individual ID 00234334
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 01y
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset Hemiplegia
Phenotype details Disease course: No episodes of metabolic decompensation since diagnosis
Protein -
Biochem free GA(urine): normal; conjugated glutarate(urine): small amounts
Enzyme/Activity 3-6% of normal controls (isolated leukozytes and cultured fibroblasts)
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-05-08 12:14:50 +02:00 (CEST)
Date last edited 2019-05-08 12:23:16 +02:00 (CEST)

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