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Noonan syndrome

MONDO:0018997

Also known as: Noonan syndrome, Noonan's syndrome, Noonan-Ehmke syndrome, Ullrich-Noonan syndrome, pseudo-Ullrich-Turner syndrome

MONDO:
MONDO:0018997
Orphanet:
648
Rare disease43 associated genes

Description

Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.

Associated genes

+33 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.