Search on: COFFIN-LOWRY SYNDROME 
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Descriptor English:   Coffin-Lowry Syndrome 
Descriptor Spanish:   Síndrome de Coffin-Lowry 
Descriptor Portuguese:   Síndrome de Coffin-Lowry 
Tree Number:   C10.597.606.643.455.249
C16.320.322.500.249
C16.320.400.525.249
Definition English:   A rare, X-linked mental retardation 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. 
History Note English:   2003 
Allowable Qualifiers English:  
blood cerebrospinal fluid
chemically induced classification
complications diet therapy
diagnosis drug therapy
economics ethnology
embryology enzymology
epidemiology etiology
genetics history
immunology metabolism
microbiology mortality
nursing pathology
prevention & control physiopathology
parasitology psychology
radiography rehabilitation
radionuclide imaging radiotherapy
surgery therapy
ultrastructure urine
ultrasonography veterinary
virology  
Record Number:   37283 
Unique Identifier:   D038921 

Occurrence in VHL:
 

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