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MENTAL RETARDATION WITH OSTEOCARTILAGINOUS ABNORMALITIES
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DeCS
Descriptor
English
:
Coffin-Lowry Syndrome
Descriptor
Spanish
:
Síndrome de Coffin-Lowry
Descriptor
Portuguese
:
Síndrome de Coffin-Lowry
Synonyms
English
:
Coffin Lowry Syndrome
Coffin Syndrome
Mental Retardation with Osteocartilaginous Abnormalities
Syndrome, Coffin
Syndrome, Coffin-Lowry
Tree Number:
C10.597.606.360.455.249
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
DG
diagnostic imaging
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
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology
Record Number:
37283
Unique Identifier:
D038921
Occurrence in VHL
:
Similar:
DeCS