OBO ID: DOID:0060491 |
Term Name: | SPOAN syndrome | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0060491 ) |
OTHER SPOAN syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
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