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ZIRC
OBO ID: DOID:0110730
Term Name: neuronal ceroid lipofuscinosis 4A Search Ontology:
Synonyms:
  • autosomal recessive neuronal ceroid lipofuscinosis 4A
  • CLN4A
Definition: A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. (2)
References:
Ontology: Human Disease   (DOID:0110730)
OTHER neuronal ceroid lipofuscinosis 4A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLN6 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None