“…For example, some patients with arthrogryposis multiplex congenita (AMC, OMIM #208100), which is characterized by limb deformities, craniofacial anomalies, genital abnormalities, growth delay, and respiratory issues, have been shown to harbor truncating MAGEL2 mutations . Furthermore, a patient previously thought to have Opitz trigonocephaly C syndrome (OMIM #211750), a rare, high‐mortality genetic syndrome characterized by facial dysmorphism, intellectual and developmental delay, hypotonia, and distal arthrogryposis, was also found to carry a truncating mutation in MAGEL2 …”