Whilst a lack of adrenal features could be due to underlying mosaicism or a somatic “rescue” event, as recently reported for variants in SAMD9 in the related condition MIRAGE syndrome (Buonocoreet al., 2017;Narumiet al., 2016), the fact that several individuals in a family with the sameCDKN1C SNV were affected provides strong evidence that the primary genomic event is influencing the phenotype rather than a rescue mechanism. The gene discussed is SAMD9; the disease is MIRAGE syndrome.