hereditary spastic paraplegia 81

Term ID

DOID:0112349

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. (2)

References

• OMIM:618768
• ORDO:506353

Ontology

Human Disease   ( DOID:0112349 )