" /> Shprintzen omphalocele syndrome - CISMeF





Preferred Label : Shprintzen omphalocele syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis; Pharynx and larynx hypoplasia with omphalocele;

Inheritance : Autosomal dominant;

Prefixed ID : 182210;

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04/05/2025


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