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neuronal ceroid lipofuscinosis 11
Summary
- Synonym
-
- CLN11
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110732
- 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 |
