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Smithovej-Magenisovej syndróm

Č. záznamu	d058496
Dátum	06.06.2025
Typ	M - MESH
Tematický termín	Smithovej-Magenisovej syndróm
Pozri tiež	(Novšie záhlavie) poruchy chronobiologické (Skutočné meno) poruchy chronobiologické
MDT	C10.281.900C16.131.077.879C16.131.260.887C16.320.180.887
Poznámka	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.

predmetové heslo

Počet záznamov: 1