Search Ontology:
Human Disease

SPOAN syndrome

Term ID
DOID:0060491
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 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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