Phenotype #0000000496

Individual ID 00001064
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 00y07m
Phenotype/Onset -
Phenotype details Severely affected; Symptoms at diagnosis: Developm. delay (HP:0001263), hypotonia (HP:0001252), dystonia (HP:0001276); Neuroimaging: Typical (= varying degrees of macrocephaly, fronto-temporal brain atrophy, widened and fluid-filled pre-temporal and Sylvian fissures, extracerebral fluid collections, white matter changes and basal ganglia lesions)
Protein -
Biochem GA(urine): 8548 µmol/mmol creatinine; 3-OH-GA(urine): 79.6µmol/mmol creatinine
Enzyme/Activity <10pmol.h⁻¹mg⁻¹ protein (cultured 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 2018-11-23 10:12:41 +01:00 (CET)

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