For instance, anomalies in PHETA1/2 have been associated with abnormal bone formation resulting in craniofacial defects (Ates et al., 2020), HAGH has been associated with skin, bone and joint infections in Yaws disease (Cheng et al., 2018) and mutations in GFPT1 have been associated with muscle weakness in congenital myasthenic syndrome (Helman et al., 2019). This evidence concerns the gene PHETA1 and congenital myasthenic syndrome.