Variety of symptoms: Check out http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome for basics. 22q11.2 deletion can present differently even within in same family. "Common signs and symptoms include heart abnormalities that are often present from birth, an opening in the roof of the mouth (a cleft palate), and distinctive facial features." Also recurrent infections, autoimmune disorders, kidney, GI & skeletal
Answered 5/24/2015
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