neuronal ceroid lipofuscinosis 4

Term ID

DOID:0110720

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 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. (2)

References

• ICD10CM:E75.4
• OMIM:162350
• ORDO:228343

Ontology

Human Disease   ( DOID:0110720 )