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Ohdo Syndrome, SBBYS Variant
A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that is caused by heterozygous mutation in the KAT6B gene on chromosome 10q22.
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
If you are experiencing a medical emergency, contact your local emergency services immediately.
Overview
A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that is caused by heterozygous mutation in the KAT6B gene on chromosome 10q22.
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.