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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:0006986 | Upper limb spasticity |
| HP:0100704 | Cerebral visual impairment |
| HP:0002061 | Lower limb spasticity |
| HP:0000648 | Optic atrophy |
| HP:0001270 | Motor delay |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002540 | Inability to walk |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001260 | Dysarthria |
| HP:0012841 | Retinal vascular tortuosity |
