Mutations in MLL4 cause Kabuki syndrome, which is a human developmental disorder characterized by distinctive facial features including eversion of lower lateral eyelids and elongated palpebral fissures, postnatal growth retardation, intellectual disability, and skeletal, craniofacial, and dermatoglyphic abnormalities (Boniel et al., 2021). The gene discussed is KMT2D; the disease is Kabuki syndrome.