| Metadata | |
|---|---|
| ID | DOID:0060491 |
| Name | SPOAN 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. https://www.ncbi.nlm.nih.gov/pubmed/15852396, https://www.ncbi.nlm.nih.gov/pubmed/26385635 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
spastic paraplegia, optic atropy, and neuropathy [EXACT] spastic paraplegia, optic atropy, and neuropathy syndrome [EXACT] |
| Parent Relationships |