has material basis in germline mutation in SPG7 hereditary spastic paraplegia 7 https://www.malacards.org/card/spastic_paraplegia_7_autosomal_recessive MEDGEN:339552 hereditary spastic paraplegia type 7 MESH:C564599 DOID:0110816 OMIM:607259 SPG7 hereditary spastic paraplegia spastic paraplegia 7, autosomal recessive hereditary spastic paraplegia 7 SCTID:715776003 SPG7 MONDO:0011803 GARD:0004927 spastic paraplegia 7 hereditary spastic paraplegia paraplegin type spastic paraplegia type 7 UMLS:C1846564 Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. Orphanet:99013 hereditary spastic paraplegia caused by mutation in SPG7 mitochondrial oxidative phosphorylation disorder hereditary spastic paraplegia hereditary ataxia