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ENSmith-Magenis Syndrome (SMS)
Alias:
Sms
17p11.2 Microdeletion Syndrome
Chromosome 17p11.2 Deletion Syndrome
Chromosome 17p Deletion Syndrome
Stiff Person Spectrum Disorder
Moersch-Woltman Syndrome
Stiff Man Syndrome
17p11.2 Monosomy
Sps
Deletion 17p Syndrome
Partial Monosomy 17p
17p- Syndrome
Del(17)
P11.2
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Smith-Magenis Syndrome, also known as sms, is related to potocki-lupski syndrome and autism spectrum disorder, and has symptoms including hoarseness and sleep disturbances. An important gene associated with Smith-Magenis Syndrome is RAI1 (Retinoic Acid Induced 1), and among its related pathways/superpathways is Smith-Magenis and Potocki-Lupski syndrome copy number variation. The drugs Pomalidomide and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include kidney and eye, and related phenotypes are intellectual disability and frontal bossing
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