Male, age 7, with global developmental delay, eye and vision abnormalities, and gastrointestinal dysmotility
Jun 10, 2025
From birth, the participant had difficulties feeding due to aspirations, requiring a G-tube from 3 months old until age 4. During infancy and early childhood, he was noted to have weak cartilage in the bronchial tubes (bronchomalacia) but this has since improved.
The participant experiences frequent ear and sinus infections and has eye abnormalities that impair his depth perception and cause his eyes to turn inward. He also experiences episodes where he does not sweat (anhidrosis) and has a decreased sensitivity to pain. As a result, the participant overheats easily and wears a cooling vest. Additionally, he has severe constipation which has led to fecal vomiting and multiple hospitalizations.
In terms of development, the participant has had language impairment and challenges with coordination. He did not speak until the age of 3 and prefers to toe-walk with an uncoordinated gait. He has average intellectual abilities. The participant also has hypogammaglobulinemia and was recently diagnosed with Avoidant/Restrictive Food Intake Disorder (ARFID).
Top 3-4 symptoms:
Organized head to toe:
Autism spectrum disorder
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!
