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 Chemke Syndrome Syndrome, Chemke Warburg Syndrome Syndrome, Warburg HARD Syndrome HARD Syndromes Syndrome, HARD Hydrocephalus, Agyria, And Retinal Dysplasia Pagon Syndrome Pagon Syndromes Syndrome, Pagon Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cerebroocular Dysplasia Muscular Dystrophy Syndrome COD-MD Syndrome COD MD Syndrome COD-MD Syndromes Syndrome, COD-MD 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 Fukuyama Congenital Muscular Dystrophy Fukuyama Muscular Dystrophy Dystrophy, Fukuyama Muscular Muscular Dystrophy, Fukuyama 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 Cerebromuscular Dystrophy, Fukuyama Type Fukuyama Syndrome Syndrome, Fukuyama 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 Muscle Eye Brain Disease, POMT1 Related Muscle-Eye-Brain Diseases, POMT1-Related POMT1-Related Muscle-Eye-Brain Disease POMT1-Related Muscle-Eye-Brain Diseases Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1 Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1 MDDGA1 alpha-Dystroglycanopathies alpha Dystroglycanopathies