Number of the records: 1
Smithovej-Magenisovej syndróm
Record number d058496 Date 06.06.2025 Type M - MESH Topical term Smithovej-Magenisovej syndróm See also (Later heading) poruchy chronobiologické
(Skutočné meno) poruchy chronobiologické
UDC C10.281.900C16.131.077.879C16.131.260.887C16.320.180.887 Note 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. subject heading
Number of the records: 1