1p telomere deletion syndrome

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1p telomere deletion syndrome - a rare syndrome caused by the deletion of the distal band on the short arm of chromosome 1. It is characterized by a distinctive facial appearance (microcephaly, deep set eyes, flat nose, and pointed chin), developmental abnormalities, mental retardation, seizures, hypotonia, hearing loss, 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 1p telomere deletion syndrome for any updates.


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