" /> Robin sequence with cleft mandible and limb anomalies - CISMeF





Preferred Label : Robin sequence with cleft mandible and limb anomalies;

CISMeF acronym : RCPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RCPS; Richieri-costa-pereira syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the eukaryotic translation initiation factor 4A, isoform 3, gene (EIF4A3, 608546.0001);

Prefixed ID : #268305;

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26/07/2025


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