Dec 19, 2018
The participant began to experience tremors at 4 months and concerns were raised for global developmental delay when she failed to meet developmental milestones. Early in life, she had episodic fevers, frequently requiring hospitalization, and staring spells thought to be seizures (absence seizures). After evaluation by neurology, she had an abnormal EEG and was identified to have low muscle tone in the arms and legs (appendicular hypotonia). At 15 months she was diagnosed with an underdeveloped optic nerve (optic nerve hypoplasia) and has poor depth perception. She also has episodes of hyperventilation, teeth grinding (bruxism), and stereotypical hand wringing.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the patient’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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