Noonan syndrome 13
MONDO:0033669Mondo
Findings
No curated finding names Noonan syndrome 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typically de novo
HPO, annotations 2026-09-02
Features
67 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.
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 6 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 7 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 6 of 7 reported patients
- PtosisHPOHP:0000508
- 6 of 7 reported patients
- HypertelorismHPOHP:0000316
- 5 of 7 reported patients
- Generalized hypotoniaHPOHP:0001290
- 4 of 7 reported patients
- Low posterior hairlineHPOHP:0002162
- 4 of 7 reported patients
- Short neckHPOHP:0000470
- 4 of 7 reported patients
- Webbed neckHPOHP:0000465
- 4 of 7 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 7 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 7 reported patients
Show the remaining 55
- Low-set earsHPOHP:0000369
- 3 of 7 reported patients
- Pes planusHPOHP:0001763
- 3 of 7 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 6 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 7 reported patients
- Atrial septal defectHPOHP:0001631
- 2 of 7 reported patients
- Dry skinHPOHP:0000958
- 2 of 7 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.
- MAPK1HGNC:6871
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Noonan syndrome 13
- Also called
- NS13