neuronal ceroid lipofuscinosis 6B

Term ID

DOID:0110730

Synonyms

• autosomal recessive neuronal ceroid lipofuscinosis 4A
• CLN4A
• neuronal ceroid lipofuscinosis 4A

Definition

A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. (2)

References

• ICD10CM:E75.4
• OMIM:204300
• ORDO:228340

Ontology

Human Disease   ( DOID:0110730 )