Four autosomal recessive (AR) genetic disorders were firstly described by our group in Northeast Brazilian communities: (1) AR intellectual disability related to a homozygous missense mutation in MED25 (MIM 610197, chr19:50,332,240 GRCh37/hg19)18, (2) AR intellectual disability related to a homozygous duplication of 5-bp in IMPA1 (MIM 602064, chr8: 82,583,247 GRCh37/hg19)19, and (3) a AR fibular and ulnar absence related to a homozygous variant in WNT7A (MIM 613005, chr3:13,860,557 GRCh37/hg19)20. The gene discussed is IMPA1; the disease is Intellectual disability.