Jul 24, 2019
The participant’s parents first became concerned about her development at 18 months when they noticed that she had not started talking or walking independently. The participant continued to be delayed in meeting developmental milestones throughout her childhood. Between 18 months and 3 years, she also developed rigid and obsessive-compulsive behavior and was diagnosed with pervasive developmental disorder, not otherwise specified (PDD-NOS).
At 6 years old, an electroencephalogram (EEG) noted some abnormal brain activity. Unfortunately, her symptoms did not improve with medication. She continues to have moderate intellectual disability and impaired social interactions.
The participant also has some distinctive physical features, such as a broad forehead, skull abnormalities (bitemporal hollowing, dolichocephaly), and increased curvature of the spine (scoliosis, kyphosis). She has some heart abnormalities (aortic regurgitation, aortic aneurysm) as well.
Clinicians and researchers have identified the following de novo genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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