has material basis in germline mutation in TFG hereditary spastic paraplegia 57 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_57_autosomal_recessive SPG57 DOID:0110809 spastic paraplegia due to partial TFG deficiency hereditary spastic paraplegia caused by mutation in TFG GARD:0017712 MONDO:0014295 An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. hereditary spastic paraplegia type 57 autosomal recessive spastic paraplegia type 57 SCTID:723826007 Orphanet:431329 spastic paraplegia 57, autosomal recessive UMLS:C3714897 MEDGEN:811490 OMIM:615658 TFG hereditary spastic paraplegia complex hereditary spastic paraplegia hereditary spastic paraplegia