Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0112349 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models