In contrast, the two families with DOLK mutations originally described by Kranz et al [9] showed a severe congenital multisystem phenotype including a variable presentation of cardiac failure, severe muscular hypotonia, and ichthyosis, with epilepsy due to hypsarrhythmia, microcephaly and visual impairment, leading to death within 6 months after birth. The gene discussed is DOLK; the disease is ichthyosis.