Noonan syndrome 11
MONDO:0032786Mondo
Findings
No curated finding names Noonan syndrome 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
24 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.
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 2 of 2 reported patients
- Relative macrocephalyHPOHP:0004482
- 1 of 1 reported patient
Show the remaining 12
- Thick vermilion borderHPOHP:0012471
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 2 of 3 reported patients
- Short statureHPOHP:0004322
- 2 of 3 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 2 reported patients
- High foreheadHPOHP:0000348
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 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.
- MRASHGNC:7227
- 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 · 2019
Where it sits
- A kind of