Walker-Warburg Syndrome

Walker-Warburgs syndrom

Engelsk definition

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.

Svenska synonymer

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Engelska synonymer

Syndrome, Walker-Warburg Walker Warburg Syndrome Warburg Syndrome Syndrome, Warburg Hydrocephalus, Agyria, And Retinal Dysplasia Chemke Syndrome Syndrome, Chemke COD-MD Syndrome COD MD Syndrome COD-MD Syndromes Syndrome, COD-MD Syndromes, COD-MD HARD Syndrome HARD Syndromes Syndrome, HARD Syndromes, HARD Pagon Syndrome Pagon Syndromes Syndrome, Pagon Syndromes, Pagon Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cerebroocular Dysplasia Muscular Dystrophy Syndrome Muscular Dystrophy, Limb-Girdle, Type 2K Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 LGMD2K Fukuyama Type Congenital Muscular Dystrophy Fukuyama CMD CMD, Fukuyama Muscular Dystrophy, Congenital, Fukuyama Type Fukuyama Muscular Dystrophy Dystrophy, Fukuyama Muscular Muscular Dystrophy, Fukuyama Fukuyama Syndrome Syndrome, Fukuyama Cerebromuscular Dystrophy, Fukuyama Type Fukuyama Congenital Muscular Dystrophy Muscle-Eye-Brain Disease Muscle-Eye-Brain Diseases Muscle Eye Brain Disease MEB (Muscle-Eye-Brain) Syndrome Muscle-Eye-Brain Disease, POMT1-Related Disease, POMT1-Related Muscle-Eye-Brain Diseases, 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 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 MDDGA1 alpha-Dystroglycanopathies alpha Dystroglycanopathies