In FAM_2_4, HiPPo identified compound heterozygous variants in INTS1 (7:1480876G:C and 7:1497193:C:G), a disease gene associated with an autosomal recessive disorder (MIM: 618571) presenting with cataracts, poor growth, developmental delay, and dysmorphic facies. Here, INTS1 is linked to Global developmental delay.