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Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis
A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that is caused by hemizygous mutation in the AMMECR1 gene on chromosome Xq23.
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 syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that is caused by hemizygous mutation in the AMMECR1 gene on chromosome Xq23.
Resources
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.