Smith-Magenis Syndrome D058496

Related MeSH Hierarchy (4)

Diseases [C] » Nervous System Diseases [C10] » Chronobiology Disorders » Smith-Magenis Syndrome

Description

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.   MeSH

Other Experimental Indicated Drugs (1)


Organization Involved with Phase 3 Indications (2)

Organization Involved with Phase 1 Indications (2)

Organization Involved with Other Experimental Indications (2)

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