Noonan syndrome 5
MONDO:0012690Mondo
Findings
No curated finding names Noonan syndrome 5 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 RAF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012690), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
37 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.
- HypertelorismHPOHP:0000316
- 22 of 23 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 21 of 23 reported patients
- Short statureHPOHP:0004322
- 30 of 33 reported patients
- Low-set earsHPOHP:0000369
- 20 of 23 reported patients
- PtosisHPOHP:0000508
- 20 of 23 reported patients
- Thickened helicesHPOHP:0000391
- 20 of 23 reported patients
- Prominent foreheadHPOHP:0011220
Show the remaining 25
- EpicanthusHPOHP:0000286
- 13 of 23 reported patients
- DolichocephalyHPOHP:0000268
- 12 of 22 reported patients
- Short neckHPOHP:0000470
- 15 of 32 reported patients
- Webbed neckHPOHP:0000465
- 12 of 31 reported patients
- Cubitus valgusHPOHP:0002967
- 8 of 23 reported patients
- Dry skinHPOHP:0000958
- 8 of 23 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.
- RAF1HGNC:9829
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2015
- 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 5
- Also called
- Noonan syndrome caused by mutation in RAF1Noonan syndrome type 5NS5RAF1 Noonan syndrome