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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:0000483 | Astigmatism |
| HP:0000545 | Myopia |
| HP:0000546 | Retinal degeneration |
| HP:0000572 | Visual loss |
| HP:0000618 | Blindness |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0000708 | Atypical behavior |
| HP:0000718 | Aggressive behavior |
| HP:0000726 | Dementia |
| HP:0000729 | Autistic behavior |
