Next Generation Sequencing Competence Network

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.

Descriptor ID	D058494
MeSH Number(s)	C10.500.507.450.499.249.500 C11.270.881 C16.131.666.507.450.499.249.500 C16.320.577.750
Concept/Terms	Walker-Warburg Syndrome Walker-Warburg Syndrome Syndrome, Walker-Warburg Walker Warburg 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 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 Pagon Syndrome Pagon Syndromes Syndrome, Pagon Syndromes, Pagon Warburg Syndrome Syndrome, Warburg Hydrocephalus, Agyria, And Retinal Dysplasia MDDGA1 Chemke Syndrome Syndrome, Chemke COD-MD Syndrome COD MD Syndrome COD-MD Syndromes Syndrome, COD-MD Syndromes, COD-MD Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1 Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1 HARD Syndrome HARD Syndromes Syndrome, HARD Syndromes, HARD Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cerebroocular Dysplasia Muscular Dystrophy Syndrome Muscular Dystrophy, Limb-Girdle, Type 2K Muscular Dystrophy, Limb-Girdle, Type 2K Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 LGMD2K Muscle-Eye-Brain Disease Muscle-Eye-Brain Disease Muscle-Eye-Brain Diseases Muscle Eye Brain Disease MEB (Muscle-Eye-Brain) Syndrome alpha-Dystroglycanopathies alpha-Dystroglycanopathies alpha Dystroglycanopathies Fukuyama Type Congenital Muscular Dystrophy 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

Below are MeSH descriptors whose meaning is more general than "Walker-Warburg Syndrome".

Below are MeSH descriptors whose meaning is related to "Walker-Warburg Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Walker-Warburg Syndrome".