has material basis in germline mutation in CYP2U1 hereditary spastic paraplegia 56 https://www.malacards.org/card/hereditary_spastic_paraplegia_56 https://www.malacards.org/card/spastic_paraplegia_56_autosomal_recessive_with_or_without_pseudoxanthoma_elasticum OMIM:615030 CYP2U1 hereditary spastic paraplegia hereditary spastic paraplegia type 56 autosomal recessive spastic paraplegia type 56 spastic paraplegia 56, autosomal recessive Orphanet:320411 hereditary spastic paraplegia caused by mutation in CYP2U1 DOID:0110808 MONDO:0014015 SPG56 UMLS:C3539507 MEDGEN:761343 GARD:0017480 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene. hereditary spastic paraplegia