Mar 11, 2019
The participant was born prematurely at 27 weeks and experienced many complications early in life. He currently has seizures, low muscle tone (generalized hypotonia, facial hypotonia), and severe global developmental delay. These symptoms are not believed to be caused by his premature birth. The participant also has distinct facial features, a small head size (microcephaly), and outbursts of aggressive behavior and abnormal temper tantrums.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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