Search Ontology:
Human Disease
neuronal ceroid lipofuscinosis 6B
- Term ID
- DOID:0110730
- Synonyms
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- 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
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- ICD10CM:E75.4
- MIM:204300
- ORDO:228340
- Ontology
- Human Disease ( DOID:0110730 )
- is a type of
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