New Orphanet summary reviewed by ITHACA : 22q11.2 deletion syndrome

22q11.2 deletion syndrome is a  rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22q11.2 deletion syndrome has just been updated on Orphanet (ORPHA:567) – september 2020 – and  the summary revised by Dr Tiffany BUSA  and Pr Nicole PHILIP for ERN ITHACA.

Follow the link to read the summary