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Fetal akinesia deformation sequence 2

Synonyms
RAPSN-Related Fetal Akinesia Deformation Sequence

Summary

The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150. [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS11, CMS4C, FADS, FADS2, RAPSYN, RNF205, RAPSN
    Summary: receptor associated protein of the synapse

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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