This effort resulted in the identification of at least two more autosomal recessive conditions in this region, namely IMPA1-associated intellectual disability (MRT59) and MED25-associated syndromic intellectual disability, a condition with typical facial dysmorphisms characterized by tall forehead, prognathism, prominent chin and very large and overhanging nose tip [19]. The gene discussed is IMPA1; the disease is intellectual disability, autosomal recessive 59.