Haploinsufficiency of the Euchromatin histone methyltransferase 1 (EHMT1) gene leads to Kleefstra Syndrome, a rare disease characterised by moderate to severe developmental delay/intellectual disabili
BMI, body mass index; DD, developmental disability; ID, intellectual disability, VUR, vesico-ureteric refluxClinical features of Kleefstra syndrome shared by the three affected brothers of family MRQ1
