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MIRAGE
hereditary spastic paraplegia 64
Summary
- Synonym
-
- SPG64
- autosomal recessive spastic paraplegia 64
- autosomal recessive spastic paraplegia type 64
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110815
- Mondo Disease Ontology
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P49961 | Ectonucleoside triphosphate diphosphohydrolase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002342 | Intellectual disability, moderate |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001249 | Intellectual disability |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001762 | Talipes equinovarus |
| HP:0000519 | Developmental cataract |
