Phenotype #0000000605

Individual ID 00001173
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 06y (6 years)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details mild pyramidal tract signs; MRI: high-signal alterations in periventricular white matter and centrum semiovale
Protein -
Biochem 3-OH-GA(urine): 97 mmol/mol creatinine (c: <10); GA(urine): 3290 mmol/mol creatinine (c:<10)
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 2013-10-22 16:41:37 +02:00 (CEST)

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