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MEDNIK‐like syndrome due to compound heterozygous mutations in AP1B1

In 2019, Alsaif et al. reported a novel MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma)-like syndrome due to mutations in AP1B1, which encodes the large β subunit of the adaptor-related protein complex 1 (AP-1).1 Another group independently reported a novel form of syndromic ichthyosis caused by AP1B1 mutations: "ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss".2.