17q21 microdeletion syndrome
17q21 microdeletion syndrome - a genetic syndrome caused by microdeletions in chromosome 17q21. The microdeletions encompass the mapt and crhr1 genes. It is characterized by mental retardation, hypotonia, distinctive facial features (long face, low set ears, and pear shaped nose), friendly behavior, and heart defects.
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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on 17q21 microdeletion syndrome for any updates.