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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:0000175 | Cleft palate |
| HP:0007199 | Progressive spastic paraparesis |
| HP:0001256 | Intellectual disability, mild |
| HP:0007814 | Retinal pigment epithelial mottling |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0008848 | Moderately short stature |
| HP:0002194 | Delayed gross motor development |
| HP:0007663 | Reduced visual acuity |
| HP:0000252 | Microcephaly |
| HP:0004302 | Functional motor deficit |
