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中英关联术语

史密斯-马吉利综合症

Smith-Magenis Syndrome

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Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.

中文名称索引;定义为 MeSH 英文原文,尚未逐条译审。MESH:D058496 · MeSH 2026。

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