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

• OMIM:620106

Ontology

Human Disease   ( DOID:0070457 )