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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28799 | Progranulin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001251 | Ataxia |
| HP:0001627 | Abnormal heart morphology |
| HP:0010536 | Central sleep apnea |
| HP:0001250 | Seizure |
| HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0000572 | Visual loss |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
