The 7SK snRNP complex has been recently linked to rare Mendelian disorders by the identification of homozygous loss-of-function mutations in LARP7 in several members of a consanguineous family with facial dysmorphism, severe intellectual disability, and primordial dwarfism and in another consanguineous family with two individuals affected by intellectual disability9,10. The gene discussed is LARP7; the disease is isolated growth hormone deficiency type IA.