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Noonan syndrome 14

Summary

Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. Patients exhibit developmental delay, impaired intellectual development, and short stature, as well as distinctive dysmorphic features including bitemporal narrowing, hypertelorism, low-set posteriorly rotated ears, prominent nasal bridge, low posterior hairline with a short webbed neck, and pectus excavatum (Motta et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NS14, Spred-2, SPRED2
    Summary: sprouty related EVH1 domain containing 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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