Three “key” genes for growth delay map within the deletion: CENPL, centromere protein L (OMIM*611503), involved in kinetochore function and mitotic progression (Burkardt et al., 2011); PAPPA2, pappalysin 2, encoding a protease for IGFBP3 and IGFBP5 involved in IGF-1 availability (Dauber et al., 2016), whose biallelic mutations account for short stature (Dauber et al., 2016); and LHX4, LIM homeobox 4 (OMIM*602146) causative of the dominant pituitary hormone deficiency-4 syndrome (CPHD4; OMIM*262700). The gene discussed is PAPPA2; the disease is short stature-pituitary and cerebellar defects-small sella turcica syndrome.