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SPOAN syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease neurodegenerative disease
External Links
- Disease Ontology
- DOID:0060491
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
