In two cases (case 5 with KCNQ2-related Developmental and epileptic encephalopathy (MIM#121200) and case 13 with EFTUD2-related Mandibulofacial dysostosis, Guion-Almeida type (MIM#603892)), the diagnoses prompted discussions regarding termination of treatment, including the involvement of the pediatric comfort team due to poor prognosis [25]. Here, EFTUD2 is linked to mandibulofacial dysostosis.