Term Name: SPOAN syndrome
Synonyms: spastic paraplegia, optic atropy, and neuropathy, spastic paraplegia, optic atropy, and neuropathy 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.
Ontology: Human Disease [DOID:0060491]   ( DOID:0060491 )

Relationships
is a type of: autosomal recessive disease neurodegenerative disease