Search on: COFFIN-LOWRY SYNDROME 
Descriptors Found: 1
Displaying: 1 .. 1  

 1 / 1 DeCS     
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 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. 
See Related English:   Ribosomal Protein S6 Kinases
 
History Note English:   2003 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   37283 
Unique Identifier:   D038921 

Occurrence in VHL: 		 

Similar:
  
DeCS CID-10 SciELO LILACS LIS