hereditary spastic paraplegia 4

Term ID

DOID:0110792

Synonyms

• autosomal dominant spastic paraplegia 4
• autosomal dominant spastic paraplegia type 4
• SPG4

Definition

A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. https://www.ncbi.nlm.nih.gov/pubmed/9302257

References

• ICD10CM:G11.4
• OMIM:182601
• ORDO:100985

Ontology

Human Disease   ( DOID:0110792 )