Human genes for neuronal ceroid lipofuscinosis 11
Neuronal ceroid lipofuscinosis 11 [DOID:0110732]
A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.
Synonyms: neuronal ceroid lipofuscinosis 11, DOID:0110732, CLN11