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| Term | neuronal ceroid lipofuscinosis 5 | ID (Ontology) | DOID:0110728 (Human Disease) |
| Definition | A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. | ||
| Also Known As | "CLN5" ; "neuronal ceroid lipofuscinosis 5 variable age of onset" | ||
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autosomal genetic disease |__autosomal recessive disease_____ lipid storage disease | |__neuronal ceroid lipofuscinosis__| neuronal ceroid lipofuscinosis 5 |
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autosomal recessive disease neuronal ceroid lipofuscinosis |
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GARD:1223 ICD10CM:E75.4 MIM:256731 ORDO:228360 |
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