Noonan syndrome 14
MONDO:0030679Mondo
Findings
No curated finding names Noonan syndrome 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
47 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.
- Low posterior hairlineHPOHP:0002162
- 4 of 4 reported patients
- Low-set earsHPOHP:0000369
- 4 of 4 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 4 reported patients
- Narrow foreheadHPOHP:0000341
- 4 of 4 reported patients
- Pectus excavatumHPOHP:0000767
- 4 of 4 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 4 of 4 reported patients
- Prominent nasal bridgeHPOHP:0000426
- 4 of 4 reported patients
- Short neckHPOHP:0000470
- 4 of 4 reported patients
- Webbed neckHPOHP:0000465
- 4 of 4 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 4 reported patients
- HypertelorismHPOHP:0000316
- 3 of 4 reported patients
Show the remaining 35
- Hypertrophic cardiomyopathyHPOHP:0001639
- 3 of 4 reported patients
- HypotoniaHPOHP:0001252
- 3 of 4 reported patients
- Coarse facial featuresHPOHP:0000280
- 2 of 4 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 2 reported patients
- Cubitus valgusHPOHP:0002967
- 2 of 4 reported patients
- Deep palmar creaseHPOHP:0006191
- 2 of 4 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.
- SPRED2HGNC:17722
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: Noonan syndrome 14
- Also called
- NS14