OBO ID: DOID:0112349
Term Name: hereditary spastic paraplegia 81 Search Ontology:
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 SELENOI on chromosome 2p23.3. (2)
References:
Ontology: Human Disease   (DOID:0112349)
OTHER hereditary spastic paraplegia 81 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SELENOI Spastic paraplegia 81, autosomal recessive 618768
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None