OBO ID: DOID:0060491
Term Name: SPOAN syndrome Search Ontology:
Synonyms:
  • 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. (2)
References:
Ontology: Human Disease   (DOID:0060491)
OTHER SPOAN syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KLC2 Spastic paraplegia, optic atrophy, and neuropathy 609541
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)