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.

Synonyms

autosomal recessive neuronal ceroid lipofuscinosis 4A
CLN4A

Cross References

Parent Terms

Child Terms

None

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neuronal ceroid lipofuscinosis 6B

neuronal ceroid lipofuscinosis 6B

Associated Genes

Associated Alleles

Associated Models