Pesquisa sobre: WALKER-WARBURG SYNDROME 
Descritores Encontrados: 1
Mostrando: 1 .. 1  

 1 / 1 DeCS     
Descritor Inglês:   Walker-Warburg Syndrome 
Descritor Espanhol:   Síndrome de Walker-Warburg 
Descritor Português:   Síndrome de Walker-Warburg 
Sinônimos Inglês:   CMD, Fukuyama
COD MD Syndrome
COD-MD Syndrome
COD-MD Syndromes
Cerebromuscular Dystrophy, Fukuyama Type
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
Chemke Syndrome
Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1
Disease, POMT1-Related Muscle-Eye-Brain
Diseases, POMT1-Related Muscle-Eye-Brain
Dystrophy, Fukuyama Muscular
Fukuyama CMD
Fukuyama Congenital Muscular Dystrophy
Fukuyama Muscular Dystrophy
Fukuyama Syndrome
Fukuyama Type Congenital Muscular Dystrophy
HARD Syndrome
HARD Syndromes
Hydrocephalus, Agyria, And Retinal Dysplasia
LGMD2K
MDDGA1
MEB (Muscle-Eye-Brain) Syndrome
Muscle Eye Brain Disease
Muscle Eye Brain Disease, POMT1 Related
Muscle-Eye-Brain Disease
Muscle-Eye-Brain Disease, POMT1-Related
Muscle-Eye-Brain Diseases
Muscle-Eye-Brain Diseases, POMT1-Related
Muscular Dystrophy, Congenital, Fukuyama Type
Muscular Dystrophy, Fukuyama
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation
Muscular Dystrophy, Limb-Girdle, Type 2K
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
POMT1-Related Muscle-Eye-Brain Disease
POMT1-Related Muscle-Eye-Brain Diseases
Pagon Syndrome
Pagon Syndromes
Syndrome, COD-MD
Syndrome, Chemke
Syndrome, Fukuyama
Syndrome, HARD
Syndrome, Pagon
Syndrome, Walker-Warburg
Syndrome, Warburg
Syndromes, COD-MD
Syndromes, HARD
Syndromes, Pagon
Walker Warburg Syndrome
Warburg Syndrome
alpha Dystroglycanopathies
alpha-Dystroglycanopathies  
Categoria:   C10.500.507.450.499.249.500
C11.270.881
C16.131.666.507.450.499.249.500
C16.320.577.750
Definição Inglês:   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 Inglês:   Dystroglycans
 
Nota Histórica Inglês:   2011 
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:   53966 
Identificador Único:   D058494 

Ocorrência na BVS:
 

Similar:

 
DeCS