Phenotype #0000155235

Individual ID	00207456
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): 655 µmol/mmol creatinine; 3-OH-GA(urine): 32.6 µmol/mmol creatinine
Enzyme/Activity	<10pmol.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 16:52:46 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD