Phenotype #0000000371

Individual ID 00000939
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y10m
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset Acute encephalopathic crisis with hypotonia (HP:0008947), dystonia (HP:0001276) and quadriparesis (HP:0002273)
Phenotype details Disease course: At age 03y: dystonic posturing (HP:0002533); CT: frontotemporal atrophy, loss of caudate nuclei
Protein -
Biochem GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency
Enzyme/Activity -
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 12:15:29 +01:00 (CET)

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