The studies published to date show a vast spectrum of extracardiac alterations in patients with ALPK3 variants, including various dysmorphic craniofacial features [29,30,35], skeletal abnormalities [27,30], joint contractures [36], myopathic features [13,37], and developmental delay [14,36], including speech delay [27]. The gene discussed is ALPK3; the disease is Global developmental delay.