OBO ID: DOID:0110723
Term Name: neuronal ceroid lipofuscinosis 8 Search Ontology:
Synonyms:
  • CLN8
Definition: A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. (3)
References:
Ontology: Human Disease   (DOID:0110723)
OTHER neuronal ceroid lipofuscinosis 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLN8 Ceroid lipofuscinosis, neuronal, 8 600143
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None