has material basis in germline mutation in NT5C2 hereditary spastic paraplegia 45 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_45_autosomal_recessive autosomal recessive spastic paraplegia type 65 hereditary spastic paraplegia type 45 SCTID:765753004 MONDO:0013165 spastic paraplegia 45, autosomal recessive autosomal recessive spastic paraplegia type 45 MEDGEN:854816 OMIM:613162 Orphanet:320396 SPG45 SPG65 GARD:0017477 UMLS:C3888209 Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. DOID:0110797 NT5C2 autosomal recessive complex spastic paraplegia autosomal recessive complex spastic paraplegia caused by mutation in NT5C2 complex hereditary spastic paraplegia