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MIRAGE
hereditary spastic paraplegia 28
Summary
- Synonym
-
- SPG28
- autosomal recessive spastic paraplegia 28
- autosomal recessive spastic paraplegia type 28
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110779
- Mondo Disease Ontology
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NEL9 | Phospholipase DDHD1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002650 | Scoliosis |
| HP:0002063 | Rigidity |
| HP:0007340 | Lower limb muscle weakness |
| HP:0001761 | Pes cavus |
| HP:0006944 | Abolished vibration sense |
| HP:0002172 | Postural instability |
| HP:0001347 | Hyperreflexia |
| HP:0002317 | Unsteady gait |
| HP:0007021 | Pain insensitivity |
| HP:0002061 | Lower limb spasticity |
