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| Term | neuronal ceroid lipofuscinosis 11 | ID (Ontology) | DOID:0110732 (Human Disease) |
| Definition | A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. | ||
| Also Known As | "CLN11" | ||
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autosomal genetic disease |__autosomal recessive disease_____ lipid storage disease | |__neuronal ceroid lipofuscinosis__| neuronal ceroid lipofuscinosis 11 |
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autosomal recessive disease neuronal ceroid lipofuscinosis |
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ICD10CM:E75.4 MIM:614706 ORDO:314629 |
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