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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:0000529 | Progressive visual loss |
| HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0001257 | Spasticity |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0000708 | Atypical behavior |
| HP:0001627 | Abnormal heart morphology |
| HP:0100543 | Cognitive impairment |
| HP:0001336 | Myoclonus |
| HP:0003657 | Vascular granular osmiophilic material deposition |
| HP:0001250 | Seizure |
