Related MeSH Hierarchy (4)
Diseases [C] » Nervous System Diseases [C10] » Chronobiology Disorders » Smith-Magenis Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Smith-Magenis Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Chromosome Disorders » Smith-Magenis Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Chromosome 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
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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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UMLS Data
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