has material basis in germline mutation in FARS2 hereditary spastic paraplegia 77 https://www.malacards.org/card/spastic_paraplegia_77_autosomal_recessive GARD:0017827 SPG77 FARS2 hereditary spastic paraplegia spastic paraplegia 77, autosomal recessive OMIM:617046 UMLS:C5569007 DOID:0110822 MEDGEN:1800430 hereditary spastic paraplegia caused by mutation in FARS2 Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. Orphanet:466722 MONDO:0014882 hereditary spastic paraplegia type 77 mitochondrial oxidative phosphorylation disorder hereditary spastic paraplegia