Term Name: neuronal ceroid lipofuscinosis 4
Synonyms: autosomal dominant neuronal ceroid lipofuscinosis 4B, CLN4B disease, neuronal ceroid lipofuscinosis 4 Parry type, neuronal ceroid lipofuscinosis 4B
Definition: A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13.
Ontology: Human Disease [DOID:0110720]   ( DOID:0110720 )

Relationships
is a type of: autosomal dominant disease neuronal ceroid lipofuscinosis