Jul 08, 2019
The participant was late to achieve early milestones and said her first words at 2.5 years of age. She was identified to have severe intellectual disability and language delay, with receptive language better than expressive language. The participant currently has 10-20 words and has difficulty speaking (speech apraxia). In addition, she has slight dysmorphic features that include a short distance between the nose and upper lip (short philtrum), abnormal eyebrows (thick eyebrow, synophrys), widely spaced teeth (diastema), and inverted nipples. She also experiences sleep disturbance, abnormalities of fingers and toes, generalized joint laxity, anxiety, and obesity.
The participant loves music, singing, dancing, and swimming. She is very emotionally and socially aware and has a great sense of humor.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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