has material basis in germline mutation in IBA57 hereditary spastic paraplegia 74 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/spastic_paraplegia_74_autosomal_recessive DOID:0110819 hereditary spastic paraplegia caused by mutation in IBA57 MEDGEN:1800260 MONDO:0014644 GARD:0017842 IBA57 hereditary spastic paraplegia spastic paraplegia 74, autosomal recessive Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. SPG74 OMIM:616451 hereditary spastic paraplegia type 74 UMLS:C5568837 Orphanet:468661 complex hereditary spastic paraplegia hereditary spastic paraplegia