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Metadata
ID DOID:0060491
Name SPOAN 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.
https://www.ncbi.nlm.nih.gov/pubmed/15852396, https://www.ncbi.nlm.nih.gov/pubmed/26385635
Xrefs

ICD10CM:G11.4

MESH:C563702

MIM:609541

ORDO:320406

Subsets

DO_rare_slim

Synonyms

spastic paraplegia, optic atropy, and neuropathy [EXACT]

spastic paraplegia, optic atropy, and neuropathy syndrome [EXACT]

Parent Relationships

is_a neurodegenerative disease

is_a autosomal recessive disease

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