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WALKER-WARBURG SYNDROME
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DeCS
Descriptor
Inglés
:
Walker-Warburg Syndrome
Descriptor
Español
:
Síndrome de Walker-Warburg
Descriptor
Portugués
:
Síndrome de Walker-Warburg
Sinónimos
Inglés
:
alpha-Dystroglycanopathies
Cerebromuscular Dystrophy, Fukuyama Type
Chemke Syndrome
Fukuyama Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy
Muscle-Eye-Brain Disease
Muscular Dystrophy, Congenital, Fukuyama Type
Warburg Syndrome
Categoría:
C10.500.507.450.499.249.500
C11.270.881
C16.131.666.507.450.499.249.500
C16.320.577.750
Definición
Inglés
:
Rare autosomal recessive
lissencephaly
type 2 associated with congenital
MUSCULAR DYSTROPHY
and eye anomalies (e.g.,
RETINAL DETACHMENT
;
CATARACT
;
MICROPHTHALMOS
). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common
congenital abnormalities
in the brain, eye and
muscle development.
Relacionados
Inglés
:
Dystroglycans
Nota Histórica
Inglés
:
2011
Calificadores Permitidos
Inglés
:
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
Número del Registro:
53966
Identificador Único:
D058494
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS