Noonan syndrome 6
MONDO:0013186Mondo
Findings
No curated finding names Noonan syndrome 6 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 NRAS gene.
Definition from the Mondo Disease Ontology (MONDO:0013186), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
39 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.
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Bilateral ptosisHPOHP:0001488
- 2 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 14 of 14 reported patients
- High foreheadHPOHP:0000348
- 14 of 14 reported patients
- HypertelorismHPOHP:0000316
- 14 of 14 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 3 of 3 reported patients
- Low posterior hairlineHPOHP:0002162
Show the remaining 27
- Abnormal sternum morphologyHPOHP:0000766
- 4 of 5 reported patients
- Motor delayHPOHP:0001270
- 9 of 12 reported patients
- Pectus excavatumHPOHP:0000767
- 9 of 13 reported patients
- CryptorchidismHPOHP:0000028
- 6 of 9 reported patients · Male
- Broad foreheadHPOHP:0000337
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 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.
- NRASHGNC:7989
- 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
4 names
Resolves to: Noonan syndrome 6
- Also called
- Noonan syndrome caused by mutation in NRASNoonan syndrome type 6NRAS Noonan syndromeNS6