neuronal ceroid lipofuscinosis 4 (DOID:0110720)
Alliance: disease page
Synonyms: autosomal dominant neuronal ceroid lipofuscinosis 4B; CLN4B disease; neuronal ceroid lipofuscinosis 4 Parry type; neuronal ceroid lipofuscinosis 4B
Alt IDs: OMIM:162350, ICD10CM:E75.4, ORDO:228343
Definition: A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.