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Human Disease

hereditary spastic paraplegia 88

Term ID
DOID:0070457
Synonyms
  • autosomal dominant spastic paraplegia 88
  • SPG88
Definition
A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. (3)
References
Ontology
Human Disease   ( DOID:0070457 )
Relationships
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Genes Involved
Zebrafish Models