has material basis in germline mutation in DDHD1 hereditary spastic paraplegia 28 https://github.com/monarch-initiative/mondo/issues/6752 https://www.malacards.org/card/spastic_paraplegia_28_autosomal_recessive MESH:C563732 OMIM:609340 Orphanet:101008 hereditary spastic paraplegia type 28 UMLS:C1836295 SPG28 SCTID:763376002 DDHD1 autosomal recessive pure spastic paraplegia autosomal recessive pure spastic paraplegia caused by mutation in DDHD1 GARD:0016941 hereditary spastic paraplegia 28 DOID:0110779 MONDO:0012256 autosomal recessive spastic paraplegia type 28 MEDGEN:332174 spastic paraplegia 28, autosomal recessive Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. pure hereditary spastic paraplegia