Pesquisa sobre:
COFFIN-LOWRY SYNDROME
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DeCS
Descritor
Inglês
:
Coffin-Lowry Syndrome
Descritor
Espanhol
:
Síndrome de Coffin-Lowry
Descritor
Português
:
Síndrome de Coffin-Lowry
Sinônimos
Inglês
:
Coffin Lowry Syndrome
Coffin Syndrome
Mental Retardation with Osteocartilaginous Abnormalities
Syndrome, Coffin
Syndrome, Coffin-Lowry
Categoria:
C10.597.606.360.455.249
C16.320.322.500.249
C16.320.400.525.249
Definição
Inglês
:
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.
Relacionados
Inglês
:
Ribosomal Protein S6 Kinases
Nota Histórica
Inglês
:
2003
Qualificadores Permitidos
Inglês
:
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
Número do Registro:
37283
Identificador Único:
D038921
Ocorrência na BVS
:
Similar:
DeCS