Noonan syndrome 8
MONDO:0014143Mondo
Findings
No curated finding names Noonan syndrome 8 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 RIT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014143), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
30 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.
- Hypertrophic cardiomyopathyHPOHP:0001639
- 6 of 6 reported patients
- HypertelorismHPOHP:0000316
- 5 of 6 reported patients
- Low-set earsHPOHP:0000369
- 4 of 5 reported patients
- Relative macrocephalyHPOHP:0004482
- 25 of 33 reported patients
- Atrial septal defectHPOHP:0001631
- 11 of 16 reported patients
- Webbed neckHPOHP:0000465
- 17 of 25 reported patients
- CryptorchidismHPOHP:0000028
Show the remaining 18
- Large for gestational ageHPOHP:0001520
- 3 of 5 reported patients · Congenital onset
- Palmoplantar cutis laxaHPOHP:0007517
- 10 of 19 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 4 reported patients
- PtosisHPOHP:0000508
- 3 of 6 reported patients
- Pulmonic stenosisHPOHP:0001642
- 3 of 6 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.
- RIT1HGNC:10023
- 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
Where it sits
- A kind of
Other names
4 names
Resolves to: Noonan syndrome 8
- Also called
- Noonan syndrome caused by mutation in RIT1Noonan syndrome type 8NS8RIT1 Noonan syndrome