has material basis in germline mutation in CPT1C hereditary spastic paraplegia 73 https://github.com/monarch-initiative/mondo/issues/6752 https://www.malacards.org/card/spastic_paraplegia_73_autosomal_dominant autosomal dominant pure spastic paraplegia caused by mutation in CPT1C spastic paraplegia 73, autosomal dominant SPG73 hereditary spastic paraplegia type 73 MEDGEN:1800404 Orphanet:444099 MONDO:0014568 Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. UMLS:C5568981 OMIM:616282 autosomal dominant spastic paraplegia type 73 CPT1C autosomal dominant pure spastic paraplegia GARD:0017763 DOID:0110818 pure hereditary spastic paraplegia