FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term SPOAN syndrome ID (Ontology) DOID:0060491 (Human Disease)
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.
Also Known As "spastic paraplegia, optic atropy, and neuropathy" ; "spastic paraplegia, optic atropy, and neuropathy syndrome"
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 Genes
 SPOAN syndrome       1
 for disease ribbon | SPOAN syndrome       1
 model of | SPOAN syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
central nervous system disease   |
 |__neurodegenerative disease____|
                                 SPOAN syndrome  1 rec.
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Is a autosomal recessive disease
neurodegenerative disease
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Synonyms
  • "spastic paraplegia, optic atropy, and neuropathy" EXACT
    "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT
Secondary IDs
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ICD10CM:G11.4
MESH:C563702
MIM:609541
ORDO:320406