Noonan syndrome 4
MONDO:0012547Mondo
Findings
No curated finding names Noonan syndrome 4 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 SOS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012547), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
40 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.
- Abnormal sternum morphologyHPOHP:0000766
- 16 of 16 reported patients
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Blue iridesHPOHP:0000635
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
Show the remaining 28
- PtosisHPOHP:0000508
- 16 of 16 reported patients
- Reduced factor VIII activityHPOHP:0003125
- 1 of 1 reported patient
- Reduced factor XI activityHPOHP:0001929
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Sparse eyebrowHPOHP:0045075
- 1 of 1 reported patient
- Thickened helicesHPOHP:0000391
- 17 of 17 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.
- SOS1HGNC:11187
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Noonan syndrome 4
- Also called
- Noonan syndrome caused by mutation in SOS1Noonan syndrome type 4NS4SOS1 Noonan syndrome