Term Name: | hereditary spastic paraplegia 88 |
---|---|
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. |
Ontology: | Human Disease [DOID:0070457] ( DOID:0070457 ) |