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hereditary spastic paraplegia 81
Summary
- Synonym
-
- SPG81
- autosomal recessive complex SPG due to Kennedy pathway dysfunction
- autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- spastic paraplegia 81 autosomal recessive
- Definition
- A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0112349
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002395 | Lower limb hyperreflexia |
| HP:0007768 | Central retinal vessel vascular tortuosity |
| HP:0001250 | Seizure |
| HP:0011448 | Ankle clonus |
| HP:0007020 | Progressive spastic paraplegia |
| HP:0000193 | Bifid uvula |
| HP:0007220 | Demyelinating motor neuropathy |
| HP:0002191 | Progressive spasticity |
| HP:0008376 | Nasal dysarthria |
| HP:0003487 | Babinski sign |
