Noonan Syndrome 4

Alternative Names

  • NS4
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number


Mode of Inheritance

Autosomal dominant

Gene Map Locus



Noonan Syndrome is a rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. NS4 is caused by mutations in the SOS1 gene . [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
610733.1Lebanon Intellectual disability; Global develop...NM_005633.3:c.1352C>AHeterozygousAutosomal, DominantNair et al. 2018
610733.2LebanonMaleNM_005633.3:c.1352C>AHeterozygousAutosomal, DominantKruszka et al. 2017
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