Phenotype #0000155239

Individual ID 00207460
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 00y11m
Phenotype/Onset -
Phenotype details Severely affected; Symptoms at diagnosis: Developm. delay (HP:0001263), 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): 1149µmol/mmol creatinine; 3-OH-GA(urine): 84.8µmol/mmol creatinine
Enzyme/Activity 50pmol.h⁻¹mg⁻¹ protein (cultured fibroblasts)
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2018-11-22 17:28:16 +01:00 (CET)
Date last edited N/A

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