OBO ID: DOID:0110730
Term Name: neuronal ceroid lipofuscinosis 6B Search Ontology:
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:
Ontology: Human Disease   ( DOID:0110730 )
Relationships
is a type of:
OTHER neuronal ceroid lipofuscinosis 6B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLN6 Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 204300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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