Descriptors Found: 1
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Descriptor English:   Walker-Warburg Syndrome 
Descriptor Spanish:   Síndrome de Walker-Warburg 
Descriptor Portuguese:   Síndrome de Walker-Warburg 
Synonyms English:   COD-MD Syndrome
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1
Fukuyama CMD
Fukuyama Muscular Dystrophy
Fukuyama Syndrome
HARD Syndrome
Hydrocephalus, Agyria, And Retinal Dysplasia
MEB (Muscle-Eye-Brain) Syndrome
Muscle Eye Brain Disease
Muscle-Eye-Brain Disease, POMT1-Related
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
Pagon Syndrome
CMD, Fukuyama
COD MD Syndrome
COD-MD Syndromes
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
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
HARD Syndromes
Muscle Eye Brain Disease, POMT1 Related
Muscle-Eye-Brain Diseases
Muscle-Eye-Brain Diseases, POMT1-Related
Muscular Dystrophy, Fukuyama
POMT1-Related Muscle-Eye-Brain Disease
POMT1-Related Muscle-Eye-Brain Diseases
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
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  
Tree Number:   C10.500.507.450.499.249.500
Definition English:   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. 
See Related English:   Dystroglycans
History Note English:   2011 
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:   53966 
Unique Identifier:   D058494 

Occurrence in VHL: