A member asked:

Please tell me what does 22q11.2 deletion syndrome do to you?

A doctor has provided 1 answer
Dr. Alvin Lin answered

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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