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

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.

Symptoms:

Reported cases - Summary of cases reported on this disease WHO - World Health Organization PubMed - A service of the National Library of Medicine and National Institutes of Health MEDLINE - Literature from the National Library of Medicine MeSH - Medical Subject Headings DeCS - Health Sciences Descriptors

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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)