Phenotype #0000155238

Individual ID	00207459
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	01y04m
Phenotype/Onset	-
Phenotype details	Severely affected; Symptoms at diagnosis: Macrocephaly (HP:0000256), focal seizures (HP:0040168), developm. delay (HP:0001263); 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): 17.2 µmol/mmol creatinine; 3-OH-GA(urine): 10.4 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 17:21:55 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD