Term Name: | hereditary spastic paraplegia 50 |
---|---|
Synonyms: | adaptor protein complex 4 deficiency, AP-4 deficiency syndrome, AP-4-Associated Hereditary Spastic Paraplegia, autosomal recessive spastic paraplegia 50, CPSQ3, SPG50 |
Definition: | A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. |
Ontology: | Human Disease [DOID:0110802] ( DOID:0110802 ) |