OBO ID: DOID:0110722 |
Term Name: | neuronal ceroid lipofuscinosis 7 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0110722 ) |
OTHER neuronal ceroid lipofuscinosis 7 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
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