Phenotype #0000155237

Individual ID	00207458
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	00y08m
Phenotype/Onset	-
Phenotype details	Severely affected; Symptoms at diagnosis: Acute hypotonia (HP:0001252) with intercurrent illness, progression to 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): 300µmol/mmol creatinine; 3-OH-GA(urine): 37.3µmol/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 17:07:22 +01:00 (CET)
Date last edited	2018-11-22 17:14:13 +01:00 (CET)

Global Variome shared LOVD