neuronal ceroid lipofuscinosis 8 (DOID:0110723)
Alliance: disease page
Synonyms: CLN8
Alt IDs: OMIM:600143, ICD10CM:E75.4, ORDO:228354
Definition: A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.