Noonan syndrome 2
MONDO:0011531Mondo
Findings
No curated finding names Noonan syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset · Fetal onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
75 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.
- Hypermelanotic maculeHPOHP:0001034
- 1 of 1 reported patient
- Hyperpigmentation of the skinHPOHP:0000953
- 4 of 4 reported patients
- Melanocytic nevusHPOHP:0000995
- 1 of 1 reported patient
- Mitral valve prolapseHPOHP:0001634
- 1 of 1 reported patient
- Posteriorly rotated earsHPOHP:0000358
- 14 of 14 reported patients
- Pulmonary artery stenosisHPOHP:0004415
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 7 of 8 reported patients
- Low-set earsHPOHP:0000369
- 20 of 23 reported patients
- Redundant neck skinHPOHP:0005989
- 5 of 6 reported patients
- Shield chestHPOHP:0000914
- 12 of 15 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 19 of 25 reported patients
- Sparse eyebrowHPOHP:0045075
- 5 of 7 reported patients
Show the remaining 63
- Underdeveloped supraorbital ridgesHPOHP:0009891
- 5 of 7 reported patients
- Webbed neckHPOHP:0000465
- 7 of 10 reported patients
- MicrognathiaHPOHP:0000347
- 9 of 13 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 6 reported patients
- Midface retrusionHPOHP:0011800
- 9 of 14 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 15 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.
- LZTR1HGNC:6742
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: Noonan syndrome 2
- Also called
- Noonan syndrome type 2NS2