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MIRAGE
neuronal ceroid lipofuscinosis 5
Summary
- Synonym
-
- CLN5
- neuronal ceroid lipofuscinosis 5 variable age of onset
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110728
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75503 | Bis(monoacylglycero)phosphate synthase CLN5 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3UMW8 | Bis(monoacylglycero)phosphate synthase CLN5 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000750 | Delayed speech and language development |
| HP:0000545 | Myopia |
| HP:0001250 | Seizure |
| HP:0000572 | Visual loss |
| HP:0000733 | Motor stereotypy |
| HP:0001272 | Cerebellar atrophy |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0000718 | Aggressive behavior |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
