Phenotype #0000155589

Individual ID 00207806
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Acute striatal injury at age 05m
Protein -
Biochem GA(urine):normal; 3-OH-GA(urine):lowor intermediate; glutarylcarnitine(NBS):not available
Enzyme/Activity 7%
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2018-11-30 14:53:23 +01:00 (CET)
Date last edited N/A

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