OBO ID: DOID:0110729
Term Name: neuronal ceroid lipofuscinosis 6A Search Ontology:
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)
OTHER neuronal ceroid lipofuscinosis 6A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLN6 Ceroid lipofuscinosis, neuronal, 6A 601780
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)