The ARRE Foundation cataloged a list of all the symptoms reported in the medical literature about individuals with Bohring-Opitz Syndrome (ASXL1) as of October 2023. This chart of symptoms across health domains is available in a downloadable PDF and may be a helpful document to share with your loved one’s doctors and other healthcare providers.
It’s important to note that all the symptoms listed here are not present in every individual. This is a wide range of symptoms reported across multiple individuals who have varying severity of their condition. The intent of this document is to help you and your loved one’s doctors know what signs and symptoms to watch for.
This chart summarizing symptoms and clinical features from 63 individuals with Bohring-Opitz Syndrome reported in research papers as of October 2023. Symptoms are grouped into the following categories:
- Communication
- Behavior/Emotional
- Sleep
- Neurological
- Visual
- Gastrointestinal and feeding
- Cognition
- Cardio-pulmonary
- Musculoskeletal
- Motor
- Skin/Hair
- Other, including growth, infections, and cancer
Published: October 2023
