Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 7

Term ID
DOID:0110722
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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