Variants in MCM3AP were initially linked to intellectual disability in an affected sibling pair with progressive polyneuropathy (Schuurs-Hoeijmakers et al., 2013) and later with a complex phenotype with immunodeficiency, genomic instability, skin changes and myelodysplasia in a child (Gatz et al., 2016). This evidence concerns the gene MCM3AP and Myelodysplasia.