Feb 15, 2018
The participant had growth delay before and after birth, and was referred to genetics by his primary care provider at the age of 3 due to concerns of developmental delay and autism. Currently he is receiving behavioral therapy. He also has distinctive facial features, including full cheeks, downturned corners of the mouth, narrow forehead, and short distance between the nose and lip (philtrum). He also has significant drooling and constipation.
Clinicians and researchers have identified the following genetic change to be causing the patient’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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