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An autosomal recessive congenital disorder characterized by intestinal atresia, ocular anomalies, microcephaly, and renal and cardiac abnormalities in some patients. The disease has features of a ciliopathy, and lethality in early childhood is observed in severe cases.




Apple peel syndrome with microcephaly and ocular anomalies
Ciliary dyskinesia, primary, 31
Jejunal atresia with microcephaly and ocular anomalies


Primary ciliary dyskinesia


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