MeSH 搜索器

Smith-Magenis Syndrome

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.
推出的年份: 2011
副标题
树号: C10.281.900, C16.131.077.879, C16.131.260.887, C16.320.180.887
MeSH 单一 ID: D058496
进入的组:
  • Smith Magenis Syndrome
  • Syndrome, Smith-Magenis
  • Chromosome 17p11.2 Deletion Syndrome
  • 17p11.2 Monosomy

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