Metadata | |
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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 |