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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.