Noonan syndrome 7
MONDO:0013379Mondo
Findings
No curated finding names Noonan syndrome 7 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 BRAF gene.
Definition from the Mondo Disease Ontology (MONDO:0013379), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
41 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.
- Growth delayHPOHP:0001510
- 5 of 5 reported patients · Neonatal onset
- HypertelorismHPOHP:0000316
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- MacrocephalyHPOHP:0000256
- 5 of 5 reported patients
- ScoliosisHPOHP:0002650
- 5 of 5 reported patients
- Short statureHPOHP:0004322
- 5 of 5 reported patients
- Generalized hypotoniaHPOHP:0001290
Show the remaining 29
- Cubitus valgusHPOHP:0002967
- 3 of 5 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 3 of 5 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 5 reported patients
- Joint hypermobilityHPOHP:0001382
- 3 of 5 reported patients
- Lentigo maligna melanomaHPOHP:0012059
- 3 of 5 reported patients
- Narrow foreheadHPOHP:0000341
- 3 of 5 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.
- BRAFHGNC:1097
- 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
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: Noonan syndrome 7
- Also called
- BRAF Noonan syndromeNoonan syndrome caused by mutation in BRAFNoonan syndrome type 7NS7