In support of an important role in development, heterozygous loss-of-function variants in HDAC4 have been reported to cause brachydactyly-mental retardation syndrome (BDMR [MIM: 600430]),13, 14, 15, 16 common features of which are brachydactyly type E, mild to moderate intellectual disability (ID), seizures, autism spectrum disorder, short stature, obesity, and facial dysmorphism. Here, HDAC4 is linked to brachydactyly.