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Disease Coffin-Lowry Syndrome

Name Coffin-Lowry Syndrome
Synonyms CLS | Coffin Lowry Syndrome | Coffin Syndrome | Mental Retardation with Osteocartilaginous Abnormalities | Syndrome, Coffin | Syndrome, Coffin-Lowry
Definition 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.
Categories Genetic disease (inborn) | Nervous system disease
MeSH® ID D038921
OMIM® ID 303600
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Mental Retardation, X-Linked Has associated chemicals Has associated genes Coffin-Lowry Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Coffin-Lowry Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Coffin-Lowry Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

None.