Phenotype #0000000373

Individual ID 00000941
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y10m
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset Subacute hemiparesis (HP:0001269)
Phenotype details Disease course: At age 08y: can walk freely but suffers from muscle hypertonia (HP:0001276) and ataxia (HP:0001251), mental and social social development normal; CT: frontotemporal atrophy
Protein -
Biochem GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency
Enzyme/Activity Residual activity: undetectable (fibroblasts)
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 2019-02-25 12:27:23 +01:00 (CET)

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