Disease

SPOAN syndrome

Definition
A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2.
Synonyms
  • spastic paraplegia, optic atropy, and neuropathy
  • spastic paraplegia, optic atropy, and neuropathy syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models