Search Ontology:
Human Disease
neuronal ceroid lipofuscinosis 6A
- Term ID
- DOID:0110729
- Synonyms
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- CLN6
- neuronal ceroid lipofuscinosis 6
- neuronal ceroid lipofuscinosis 6 variable age of onset
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. (2)
- References
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- GARD:1224
- ICD10CM:E75.4
- MIM:601780
- ORDO:228363
- Ontology
- Human Disease ( DOID:0110729 )
- is a type of
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Genes Involved
Zebrafish Models