Phenotype #0000000524

Individual ID 00001092
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen
Protein -
Biochem GA(urine), 3-OH-GA(urine) & glutaconic acids(urine): excessive amounts
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 2019-05-24 11:43:00 +02:00 (CEST)

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