has material basis in germline mutation in SLC33A1 hereditary spastic paraplegia 42 https://github.com/monarch-initiative/mondo/issues/6752 https://www.malacards.org/card/spastic_paraplegia_42_autosomal_dominant SCTID:763070001 Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. SPG42 Orphanet:171863 autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1 MONDO:0012928 GARD:0017073 autosomal dominant spastic paraplegia type 42 MESH:C567262 spastic paraplegia 42, autosomal dominant SLC33A1 autosomal dominant pure spastic paraplegia hereditary spastic paraplegia type 42 UMLS:C2675528 OMIM:612539 DOID:0110794 MEDGEN:393407 pure hereditary spastic paraplegia