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General Information
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| Term |
neuronal ceroid lipofuscinosis 8 |
ID (Ontology) |
DOID:0110723 (Human Disease) |
| 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. |
| Also Known As |
"CLN8" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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neuronal ceroid lipofuscinosis 8 | 1 | for disease ribbon | neuronal ceroid lipofuscinosis 8 | 1 | model of | neuronal ceroid lipofuscinosis 8 | 1 |
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Relationships