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Distal monosomy 6p
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Smooth philtrum
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
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PMID (PMCID)