OBO ID: DOID:0110723 |
Term Name: | neuronal ceroid lipofuscinosis 8 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0110723 ) |
OTHER neuronal ceroid lipofuscinosis 8 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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