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Faundes-Banka syndrome

Summary

Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EIF-5A, EIF5A1, FABAS, eIF-4D, eIF5AI, EIF5A
    Summary: eukaryotic translation initiation factor 5A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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