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Brachycephaly, Trichomegaly, and Developmental Delay
A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that is caused by heterozygous mutation in the RPS23 gene on chromosome 5q14.
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
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Overview
A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that is caused by heterozygous mutation in the RPS23 gene on chromosome 5q14.
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.