Noonan syndrome 9
MONDO:0014691Mondo
Findings
No curated finding names Noonan syndrome 9 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 SOS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014691), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
17 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.
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Prolonged prothrombin timeHPOHP:0008151
- 2 of 2 reported patients
- Short neckHPOHP:0000470
- 5 of 5 reported patients
- Webbed neckHPOHP:0000465
- 5 of 5 reported patients
- Curly hairHPOHP:0002212
- 4 of 5 reported patients
- Sparse eyebrowHPOHP:0045075
- 4 of 5 reported patients
- Keratosis pilarisHPOHP:0032152
Show the remaining 5
- Pulmonic stenosisHPOHP:0001642
- 1 of 5 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 5 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- HypertelorismHPOHP:0000316
- PtosisHPOHP:0000508
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.
- SOS2HGNC:11188
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Noonan syndrome 9
- Also called
- Noonan syndrome caused by mutation in SOS2Noonan syndrome type 9NS9SOS2 Noonan syndrome