Phenotype #0000155246

Individual ID	00207467
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: 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): 625 µmol/mmol creatinine; 3-OH-GA(urine): 96.3 µmol/mmol creatinine
Enzyme/Activity	Not done
Owner name	Isabelle Rinke
Database submission license	No license selected
Created by	Isabelle Rinke
Date created	2018-11-23 10:19:07 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD