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DeCS
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Descriptor Inglés:
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Smith-Magenis Syndrome
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Descriptor Español:
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Síndrome de Smith-Magenis
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Descriptor Portugués:
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Síndrome de Smith-Magenis
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Sinónimos Inglés:
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17p11.2 Monosomy
Chromosome 17p11.2 Deletion Syndrome
Smith Magenis Syndrome
Syndrome, Smith-Magenis
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Categoría:
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C10.281.900
C16.131.077.879
C16.131.260.887
C16.320.180.887
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Definición Inglés:
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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. |
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Relacionados Inglés:
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Chronobiology Disorders
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Nota Histórica Inglés:
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2011
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Calificadores Permitidos Inglés:
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Número del Registro:
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53964
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Identificador Único:
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D058496
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Ocurrencia en la BVS:
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Similar:
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DeCS
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