This variant is a heterozygous mutation in the imprinted gene CDKN1C, chromosome 11 g.2905353T>C (hg19), corresponding to NM_000076.2:c.832A>G (p.Lys278Glu), recently reported to cause IMAGe syndrome (the acronym stands for Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) (Arboleda et al. The gene discussed is CDKN1C; the disease is alternating hemiplegia of childhood.