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

• ICD10CM:G11.4
• MESH:C563702
• OMIM:609541
• ORDO:320406

Ontology

Human Disease   ( DOID:0060491 )