noonan syndrome 12
MONDO:0032839Mondo
Findings
No curated finding names noonan syndrome 12 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.
- Feeding difficulties in infancyHPOHP:0008872
- 3 of 6 reported patients
- PolyhydramniosHPOHP:0001561
- 3 of 6 reported patients · Fetal onset
- StrabismusHPOHP:0000486
- 3 of 9 reported patients
- Ventricular septal defectHPOHP:0001629
- 3 of 9 reported patients
- Glabellar hemangiomaHPOHP:0001076
- 2 of 9 reported patients
- Motor delayHPOHP:0001270
- 2 of 9 reported patients
- 11 pairs of ribsHPOHP:0000878
- 1 of 9 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 9 reported patients
- Anteriorly placed anusHPOHP:0001545
- 1 of 9 reported patients
- Atopic dermatitisHPOHP:0001047
- 1 of 9 reported patients
- Chiari malformationHPOHP:0002308
- 1 of 9 reported patients
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 1 of 9 reported patients
Show the remaining 12
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 9 reported patients
- EsotropiaHPOHP:0000565
- 1 of 9 reported patients
- HypermetropiaHPOHP:0000540
- 1 of 9 reported patients
- HypotoniaHPOHP:0001252
- 1 of 9 reported patients
- Mild global developmental delayHPOHP:0011342
- 1 of 9 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 9 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.
- RRAS2HGNC:17271
- Definitive · G2P · Autosomal dominant · 2024
- 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