Within a large sequencing study of 1000 cases from Saudi‐Arabia, a homozygous loss‐of‐function variant in CCDC186 (NM_018017: c.610C>T; p.(Gln204Ter)) was identified in a patient with failure to thrive, global developmental delay, hypotonia, brain atrophy as well as undescended testis, micropenis, and poor vision.13 The gene discussed is CCDC186; the disease is Global developmental delay.