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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Smith-Magenis Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Smith-Magenis Syndrome
Nervous System Diseases > Chronobiology Disorders > Smith-Magenis Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Smith-Magenis Syndrome

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Smith-Magenis Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

  • Chromosome 17p11.2 Deletion Syndrome

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-XL1NS8KF-X

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RDF/XML TURTLE JSON-LD Creado 25/6/10, última modificación 8/7/13