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GTR Home > Conditions/Phenotypes > Fetal akinesia deformation sequence 4

Fetal akinesia deformation sequence 4

Summary

Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder characterized by decreased fetal movements due to impaired neuromuscular function, resulting in significant congenital contractures and death in utero or soon after birth (summary by Bonnin et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FADS4, NUP88
    Summary: nucleoporin 88

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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