Noonan syndrome
MONDO:0018997Mondo
Findings
No curated finding names Noonan syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.
Definition from the Mondo Disease Ontology (MONDO:0018997), read 2026-09-29. CC BY 4.0.
Features
70 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.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormal EKGHPOHP:0003115
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the abdominal wall musculatureHPOHP:0010318
- Very frequent (80% to 99% of cases)
- Cystic hygromaHPOHP:0000476
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- Very frequent (80% to 99% of cases)
- Enlarged thoraxHPOHP:0100625
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
Show the remaining 58
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Pectus carinatumHPOHP:0000768
- Very frequent (80% to 99% of cases)
- Pectus excavatumHPOHP:0000767
- Very frequent (80% to 99% of cases)
Genes
20 genes
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.
- KRASHGNC:6407
- Definitive · ClinGen · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- LZTR1HGNC:6742
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · ClinGen · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- NRASHGNC:7989
- Definitive · ClinGen · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- PTPN11HGNC:9644
- Definitive · ClinGen · Autosomal dominant · 2018
- · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Noonan syndrome
- Also called
- Noonan's syndrome