Autosomal recessive mutations in human DPH1 or DPH2 have been linked to developmental delay with short stature, dysmorphic features, and sparse hair (DEDSSH1 and DEDSSH2; OMIM 616901 and 620062, respectively), rare genetic syndromes with characteristic craniofacial disorders, growth retardation, and intellectual disability4–8. This evidence concerns the gene DPH2 and Global developmental delay.