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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:0011209 | EEG with generalized slow activity grade 4 |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0000529 | Progressive visual loss |
| HP:0001337 | Tremor |
| HP:0001627 | Abnormal heart morphology |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0002312 | Clumsiness |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0010536 | Central sleep apnea |
