ALG6 and Kabuki syndrome: Finally, the search for variants in genes involved in the clinical signs of the patient revealed a known heterozygous ALG6 variant (p.Ser304Phe) and three new heterozygous variants in KMT2D. KMT2D encodes a lysine methyltransferase 2D involved in the Kabuki syndrome, a multisystem autosomal dominant disorder associated to structural cardiopathy and skeletal malformations (Digilio, Marino, Toscano, Giannotti, & Dallapiccola, 2001): ENST00000301067.7: c.10673A>G ENSP00000301067.7: p.(Glu3558Gly).