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Definition

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.

Acronym

STROMS

Synonyms

Apple peel syndrome with microcephaly and ocular anomalies
CILD31
Ciliary dyskinesia, primary, 31
Jejunal atresia with microcephaly and ocular anomalies

Keywords

Primary ciliary dyskinesia

 
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