Aug 09, 2018
Since birth, the participant has experienced involuntary movements of his arms, legs, and face (choreoathetosis). He also has low muscle tone, underactive reflexes, and abnormal eye movements with episodes of eye rolling. He has brain disease (encephalopathy) and a recent MRI of his brain showed volume loss and abnormal structures. He was previously able to grasp items and bring them to his mouth, but he is no longer able to do this.
Some of his other symptoms include visual and hearing impairment, abnormal facial features, light pigmentation (hypopigmentation), a port-wine stain birthmark (nevus flammeus), and feeding difficulties.
If this participant sounds like you or someone you know, please contact us!
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