Walker–Warburg syndrome

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A congenital condition (HARD ± E syndrome) characterized by hydrocephalus, agyria, retinal dysplasia, with or without encephalocele. It is often associated with several distinct congenital muscular dystrophies. The disorder is caused by mutation in the genes encoding protein O-mannosyltransferase-1 and -2 (POMT1 and -2) but individual patients with WWS have been shown to have homozygous mutations in the fukutin and LARGE genes, respectively.

Subjects: Medicine and Health.

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