Jun 17, 2019
The participant was delayed meeting some of his developmental milestones. He did not walk independently until 17 months and said his first word at 2 years old. Academic testing revealed borderline intellectual disability (IQ of 73). He received speech therapy and was able to speak more clearly around age 6. He has since been diagnosed with a central auditory processing disorder.
At age 4-5, the participant began to experience lower limb pain that became progressively worse over time. After developing severe headaches at age 8, he was referred for brain imaging, which revealed an enlarged space in the back of the brain (prominence of the retrocerebellar space). This difference can be seen in unaffected individuals. The participant also has several eye differences (optic atrophy, myopic astigmatism, strabismus).
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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