OBO ID: DOID:0110722
Term Name: neuronal ceroid lipofuscinosis 7 Search Ontology:
Synonyms:
  • CLN7
Definition: A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. https://www.ncbi.nlm.nih.gov/pubmed/17564970
References:
Ontology: Human Disease   (DOID:0110722)
OTHER neuronal ceroid lipofuscinosis 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MFSD8 Ceroid lipofuscinosis, neuronal, 7 610951
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)