" /> Fetal Akinesia Deformation Sequence - CISMeF





Preferred Label : Fetal Akinesia Deformation Sequence;

NCIt synonyms : Pena-Shokeir syndrome, Type 1; FADS;

NCIt definition : A condition characterized by fetal akinesia and intrauterine growth restriction, that may be associated with mutation(s) in the RAPSN or DOK7 genes, encoding 43 kDa receptor-associated protein of the synapse and protein Dok-7, respectively.;

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31/07/2025


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