Term Name: | SPOAN syndrome |
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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 ) |