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DO Term : SPOAN syndrome [DOID:0060491] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C563702,
  • OMIM:609541,
  • spastic paraplegia, optic atropy, and neuropathy syndrome,
  • 609541,
  • spastic paraplegia, optic atropy, and neuropathy,
  • ORDO:320406,
  • ICD10CM:G11.4
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