has material basis in germline mutation in NIPA1 hereditary spastic paraplegia 6 https://www.malacards.org/card/spastic_paraplegia_6_autosomal_dominant autosomal dominant spastic paraplegia type 6 OMIM:600363 Orphanet:100988 spastic paraplegia 6 GARD:0004928 hereditary spastic paraplegia type 6 DOID:0110811 MONDO:0010878 spastic paraplegia 6, autosomal dominant NIPA1 hereditary spastic paraplegia MESH:C536866 MEDGEN:324965 hereditary spastic paraplegia caused by mutation in NIPA1 SPG6 Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. familial spastic paraplegia autosomal dominant 3 SCTID:732949006 UMLS:C1838192 FSP3 hereditary spastic paraplegia