Human genes for neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 3 [DOID:0110731]
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
Synonyms: neuronal ceroid lipofuscinosis 3, DOID:0110731, Batten disease, juvenile neuronal ceroid lipofuscinosis, Batten disorder ...