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neuronal ceroid lipofuscinosis 13
Summary
- Synonym
-
- CLN13
- neuronal ceroid lipofuscinosis 13 Kufs type
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110727
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001268 | Mental deterioration |
| HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0000726 | Dementia |
| HP:0010536 | Central sleep apnea |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0000572 | Visual loss |
| HP:0002333 | Motor deterioration |
| HP:0001251 | Ataxia |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0001337 | Tremor |
