Noonan syndrome 3
MONDO:0012371Mondo
Findings
No curated finding names Noonan syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.
Definition from the Mondo Disease Ontology (MONDO:0012371), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
53 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- HypertelorismHPOHP:0000316
- 9 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Relative macrocephalyHPOHP:0004482
- 6 of 7 reported patients
- Short neckHPOHP:0000470
- 6 of 7 reported patients
- Pectus excavatumHPOHP:0000767
- 7 of 9 reported patients
- Short statureHPOHP:0004322
Show the remaining 41
- Chiari type I malformationHPOHP:0007099
- 1 of 2 reported patients
- Cystic hygromaHPOHP:0000476
- 1 of 2 reported patients
- DolichocephalyHPOHP:0000268
- 1 of 2 reported patients
- EpicanthusHPOHP:0000286
- 1 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 2 reported patients
- High palateHPOHP:0000218
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KRASHGNC:6407
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: Noonan syndrome 3
- Also called
- KRAS gene related Noonan syndromeKRAS Noonan syndromeNoonan syndrome caused by mutation in KRASNoonan syndrome type 3NS3