Term Name: | hereditary spastic paraplegia 81 |
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Synonyms: | autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction, autosomal recessive complex SPG due to Kennedy pathway dysfunction, spastic paraplegia 81 autosomal recessive, SPG81 |
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. |
Ontology: | Human Disease [DOID:0112349] ( DOID:0112349 ) |