hereditary spastic paraplegia 50 (DOID:0110802)
Alliance: disease page
Synonyms: adaptor protein complex 4 deficiency; AP-4 deficiency syndrome; AP-4-Associated Hereditary Spastic Paraplegia; autosomal recessive spastic paraplegia 50; SPG50
Alt IDs: OMIM:612936, ORDO:280763
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.