hereditary spastic paraplegia 51

Term ID

DOID:0110803

Synonyms

• autosomal dominant spastic paraplegia 51
• CPSQ4
• spastic quadriplegic cerebral palsy 4
• SPG51

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. (2)

References

• GARD:10999
• MIM:613744
• ORDO:280763

Ontology

Human Disease   ( DOID:0110803 )