spastic paraplegia, optic atropy, and neuropathy https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_optic_atrophy_and_neuropathy MONDO:0012297 SPOAN syndrome MESH:C563702 OMIM:609541 A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. GARD:0017479 UMLS:C1836010 spastic paraplegia-optic atrophy-neuropathy syndrome DOID:0060491 MEDGEN:324411 Orphanet:320406 SPOAN complex hereditary spastic paraplegia Spastic paraplegia-optic atrophy-neuropathy syndrome