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Concept information

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

Terme préférentiel

Smith-Magenis Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

  • Chromosome 17p11.2 Deletion Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

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

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RDF/XML TURTLE JSON-LD Date de création 25/06/2010, dernière modification le 08/07/2013