About   Help   FAQ
Disease Ontology Browser
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory