has material basis in germline mutation in C19orf12 hereditary spastic paraplegia 43 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_43_autosomal_recessive MEDGEN:760531 autosomal recessive complex spastic paraplegia caused by mutation in C19orf12 autosomal recessive spastic paraplegia type 43 DOID:0110795 Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. C19orf12 autosomal recessive complex spastic paraplegia GARD:0017473 MONDO:0014024 hereditary spastic paraplegia type 43 UMLS:C2680446 SPG43 OMIM:615043 spastic paraplegia 43, autosomal recessive SCTID:764736001 Orphanet:320370 complex hereditary spastic paraplegia