Feb 21, 2019
The participant was born by emergency cesarean section at 38 weeks. After failing to meet his developmental milestones, he was diagnosed with global developmental delay and low muscle tone (generalized hypotonia). At one-year-old, the participant began to have frequent seizures. Anti-seizure medications have helped reduce the number of seizures. He currently experiences them only a few times a year.
The participant also has narrowing of the esophagus (esophageal stricture), which makes eating solid foods difficult. A gastronomy tube (G-tube) was placed to help with weight gain. Some of his other symptoms include horizontal, repetitive, uncontrolled eye movements (nystagmus), nearsightedness (myopia), and excess curvature of the spine (kyphosis, scoliosis). Of note, the participant also has asthma and experiences recurrent episodes of pneumonia. He is nonverbal, but can communicate through gestures, and can walk with assistance.
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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