has material basis in germline mutation in MARS1 complex hereditary spastic paraplegia autosomal recessive spastic paraplegia type 70 https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6878 https://github.com/monarch-initiative/mondo/issues/9461 https://www.malacards.org/card/spastic_paraplegia_70_autosomal_recessive MONDO:0018422 Orphanet:401835 GARD:0021700 DOID:0070454 MEDGEN:1655287 spastic paraplegia 70, autosomal recessive OMIM:620323 UMLS:C4749431 SPG70 autosomal recessive spastic paraplegia type 70 A rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.