Phenotype #0000000592

Individual ID 00001160
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y10m
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset Insidious onset of dyskinesia (HP:0100660) and hypotonia (HP:0001252)
Phenotype details Progressive gross motor delay (HP:0002194), dystonia (HP:0001276), choreoathetosis (HP:0001266), wheelchair-dependent (disability unit at school), intellectual abilities normal, dysarthria (HP:0001260) (but can express well), head circumference normal (Maximum: 25th centile at age 12m)
Protein -
Biochem Age 04d:glutarylcarnitine:1.2µmol/l; Age 15d:glutarylcarnitine:0.6µmol/l; Later life:glutarylcarnitine:0.55µmol/l; GA(urine): elevtaed; 3-0H-GA(urine):Low, intermittent excretor
Enzyme/Activity GCDH activity (fibroblasts): 3% 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 2018-11-26 14:11:46 +01:00 (CET)

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