Walker-Warburg Syndrome
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.
Year introduced: 2011
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Tree Number(s): C10.500.507.450.499.249.500, C11.270.881, C16.131.666.507.450.499.249.500, C16.320.577.750
MeSH Unique ID: D058494
Entry Terms:
- Syndrome, Walker-Warburg
- Walker Warburg Syndrome
- Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
- Cerebroocular Dysplasia Muscular Dystrophy Syndrome
- Chemke Syndrome
- Syndrome, Chemke
- COD-MD Syndrome
- COD MD Syndrome
- COD-MD Syndromes
- Syndrome, COD-MD
- HARD Syndrome
- HARD Syndromes
- Syndrome, HARD
- Hydrocephalus, Agyria, And Retinal Dysplasia
- Pagon Syndrome
- Pagon Syndromes
- Syndrome, Pagon
- Warburg Syndrome
- Syndrome, Warburg
- Fukuyama Type Congenital Muscular Dystrophy
- Fukuyama CMD
- CMD, Fukuyama
- Fukuyama Congenital Muscular Dystrophy
- Fukuyama Muscular Dystrophy
- Dystrophy, Fukuyama Muscular
- Muscular Dystrophy, Fukuyama
- Cerebromuscular Dystrophy, Fukuyama Type
- Muscular Dystrophy, Congenital, Fukuyama Type
- Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A
- Walker-Warburg Syndrome, Fktn-Related
- Fktn-Related Walker-Warburg Syndrome
- Fktn-Related Walker-Warburg Syndromes
- Syndrome, Fktn-Related Walker-Warburg
- Walker Warburg Syndrome, Fktn Related
- Fukuyama Syndrome
- Syndrome, Fukuyama
- Muscle-Eye-Brain Disease
- Muscle-Eye-Brain Diseases
- MEB (Muscle-Eye-Brain) Syndrome
- Muscle Eye Brain Disease
- alpha-Dystroglycanopathies
- alpha Dystroglycanopathies
- Muscular Dystrophy, Limb-Girdle, Type 2K
- LGMD2K
- Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation
- Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
- Muscle-Eye-Brain Disease, POMT1-Related
- Disease, POMT1-Related Muscle-Eye-Brain
- Muscle Eye Brain Disease, POMT1 Related
- Muscle-Eye-Brain Diseases, POMT1-Related
- POMT1-Related Muscle-Eye-Brain Disease
- POMT1-Related Muscle-Eye-Brain Diseases
- Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1
- Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1
- MDDGA1
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1
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