Number of the records: 1  

Smithovej-Magenisovej syndróm

  1. Record numberd058496
    Date06.06.2025
    TypeM - MESH
    Topical termSmithovej-Magenisovej syndróm
    See also(Later heading) poruchy chronobiologické
    (Skutočné meno) poruchy chronobiologické
    UDCC10.281.900C16.131.077.879C16.131.260.887C16.320.180.887
    NoteComplex 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.
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Number of the records: 1  

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