Jul 10, 2019
Shortly after birth, the participant was found to have gastroesophageal (acid) reflux and low muscle tone (hypotonia). His growth was normal except for a large head size (macrocephaly).
At 2 months old, it was noted that he had cataracts and he underwent surgery before 1 year old. He was also found to have global developmental delay, fine motor delays, and communication delays. He started having seizures just before age 6.
The participant has an older sister with a similar medical history. In early infancy, she was noticed to have low muscle tone (hypotonia), global developmental delay, and a larger head size (macrocephaly). She also has communication delays and seizures.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participants’ symptoms:
If this participant sounds like you or someone you know, please contact us!
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