Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 6A

Term ID
DOID:0110729
Synonyms
  • CLN6
  • neuronal ceroid lipofuscinosis 6
  • neuronal ceroid lipofuscinosis 6 variable age of onset
Definition
A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. (2)
References
Ontology
Human Disease   ( DOID:0110729 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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