To date, more than 70 patients with mutations in this gene have been identified, mostly in the past 2 years.5 It appears that the MED13L gene mutations are one of the most frequent causes of syndromic ID; however, in our in-house database consisting of over 700 patients with various neurodevelopmental disorders, ID and specific dysmorphic features, we found only one that caused mutation.2 In all the cases, the identified single point variants in the MED13L gene predominated the loss-of function mutations (76% of all cases).5 The gene discussed is MED13L; the disease is neurodevelopmental disorder.