Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

aligner
annoter
télécharger

Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Mental Retardation, X-Linked > Coffin-Lowry Syndrome
... > Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Coffin-Lowry Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Coffin-Lowry Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Coffin-Lowry Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Mental Retardation, X-Linked > Coffin-Lowry Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Coffin-Lowry Syndrome
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Coffin-Lowry Syndrome

Terme préférentiel

Coffin-Lowry Syndrome  

Type

  • mesh:Descriptor

Définition

  • A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

Concept générique

Concepts associés

Synonyme(s)

  • Coffin Syndrome
  • Mental Retardation with Osteocartilaginous Abnormalities

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-NN00N0FH-C

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 03/07/2002, dernière modification le 30/06/2018