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neuronal ceroid lipofuscinosis 1
Summary
- Synonym
-
- CLN1
- neuronal ceroid lipofuscinosis 1 variable age of onset
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110721
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100543 | Cognitive impairment |
| HP:0000550 | Undetectable electroretinogram |
| HP:0001260 | Dysarthria |
| HP:0001310 | Dysmetria |
| HP:0001332 | Dystonia |
| HP:0002015 | Dysphagia |
| HP:0002072 | Chorea |
| HP:0002074 | Increased neuronal autofluorescent lipopigment |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002197 | Generalized-onset seizure |
