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Date: Fri Dec 13 2024
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SPOAN syndrome
DOID:0060491
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
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.
[1]
[2]
Synonyms
spastic paraplegia, optic atropy, and neuropathy
spastic paraplegia, optic atropy, and neuropathy syndrome
Cross References
ICD10CM:G11.4
MESH:C563702
Show All 4
Parent Terms
autosomal recessive disease
neurodegenerative disease
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
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