neuronal ceroid lipofuscinosis 3
A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
MONDO:0016295
neuronal ceroid lipofuscinosis
is_a
CLN3
exact
CLN3 disease, juvenile
related
CLN3 neuronal ceroid lipofuscinosis
exact
Juvenile CLN3 Disease
exact
Spielmeyer Sjogren disease
related
Vogt Spielmeyer disease
related
ceroid lipofuscinosis, neuronal, 3
related
ceroid lipofuscinosis, neuronal, type 3
exact
neuronal ceroid lipofuscinosis 3
exact
neuronal ceroid lipofuscinosis caused by mutation in CLN3
exact
neuronal ceroid lipofuscinosis type 3
exact
SPBC530.12c SPAC607.09c