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| Term | neuronal ceroid lipofuscinosis 6A | ID (Ontology) | DOID:0110729 (Human Disease) |
| 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. | ||
| Also Known As | "CLN6" ; "neuronal ceroid lipofuscinosis 6" ; "neuronal ceroid lipofuscinosis 6 variable age of onset" | ||
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autosomal genetic disease |__autosomal recessive disease_____ lipid storage disease | |__neuronal ceroid lipofuscinosis__| neuronal ceroid lipofuscinosis 6A |
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autosomal recessive disease neuronal ceroid lipofuscinosis |
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GARD:1224 ICD10CM:E75.4 MIM:601780 ORDO:228363 |
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