| Diseases/Conditions |
Developmental delay, intellectual disability, congenital anomalies, DiGeorge Syndrome, 22q11.21 Deletion Syndrome, DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome, Prader Willi/Angelman Syndrome, Disorders of sex development, Kallmann Syndrome, Miller-Dieker Syndrome, Smith-Magenis Syndrome, Microdeletion 22q11.2 Syndrome, Steroid Sulfatase Deficiency, X-Linked Ichthyosis, Steroid Sulfatase Deficiency (SSD), Steroid sulfatase deficiency disease (SSDD), Placental steroid sulfatase deficiency, Williams Syndrome, 7q11.23 Deletion, Wolf-Hirschhorn Syndrome, 4p- Syndrome, Sex Chromosome Determination, Ambiguous Genitalia, AML/SRY |
