Welcome to Entry Card of Lysosomal Disorders

Details of RareLSD ID D_1083

Primary information
Disease_ID	D_1083
Disease	Type 12 Kufor–Rakeb syndrome
Category	Lipofucinosis
ENZYME LEVEL IN PATIENT (nmol/h/mg protein)	nr
M-6-P	na
Gene	ATP13A2
Type of Enzyme	na