For example, “chr5:77148376-77148723” was linked to TBCA, a causal gene for HRDS (Hypoparathyroidism-Retardation-Dysmorphism Syndrome)56, which will cause facial anomalies; the downstream gene of “chr1:244217544-244217918” was ZBTB18 and it was associated with MRD2257, whose symptom included variable but characteristic facial features. The gene discussed is TBCA; the disease is Sanjad-Sakati syndrome.