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Summary Literature (0)
DOID:0060491 - SPOAN syndrome

Disease Ontology 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

Xenbase Genes : flrt1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012297 - spastic paraplegia, optic atropy, and neuropathy


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), neurodegenerative disease (is_a)