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hereditary spastic paraplegia 75
Summary
- Synonym
-
- SPG75
- autosomal recessive spastic paraplegia 75
- autosomal recessive spastic paraplegia type 75
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110820
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001257 | Spasticity |
| HP:0012511 | Temporal optic disc pallor |
| HP:0001263 | Global developmental delay |
| HP:0000639 | Nystagmus |
| HP:0002495 | Impaired vibratory sensation |
| HP:0002119 | Ventriculomegaly |
| HP:0100543 | Cognitive impairment |
| HP:0003677 | Slowly progressive |
| HP:0002522 | Areflexia of lower limbs |
| HP:0007663 | Reduced visual acuity |
