SPOAN syndrome (DOID:0060491)
Alliance: disease page
Synonyms: spastic paraplegia, optic atropy, and neuropathy; spastic paraplegia, optic atropy, and neuropathy syndrome
Alt IDs: OMIM:609541, ICD10CM:G11.4, MESH:C563702, ORDO:320406
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.