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The groups led by James Lupski (Baylor College of Medicine) and Sarah Elsea (Virginia Commonwealth University) are in the process of studying the exact function of this gene in relation to Smith Magenis Syndrome. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development.

People with Smith–Magenis syndrome most often have no history of the condition in their family.

These facial features become more noticeable as the individual ages.

Disrupted sleep patterns are characteristic of Smith–Magenis syndrome, typically beginning early in life.

Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times each night, due to an inverted circadian rhythm of melatonin.

The mouth curves downwards and the upper lip curves outwards.

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