Noonan syndrome 10
MONDO:0014693Mondo
Findings
No curated finding names Noonan syndrome 10 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 LZTR1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014693), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
39 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-set earsHPOHP:0000369
- 7 of 7 reported patients
- Prolonged partial thromboplastin timeHPOHP:0003645
- 2 of 2 reported patients
- Prominent corneal nerve fibersHPOHP:0010726
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 16 of 17 reported patients
- PtosisHPOHP:0000508
- 14 of 16 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 13 of 16 reported patients
- EpicanthusHPOHP:0000286
Show the remaining 27
- Palmoplantar cutis laxaHPOHP:0007517
- 4 of 7 reported patients
- Relative macrocephalyHPOHP:0004482
- 4 of 7 reported patients
- Webbed neckHPOHP:0000465
- 4 of 7 reported patients
- High palateHPOHP:0000218
- 3 of 6 reported patients
- Short neckHPOHP:0000470
- 4 of 9 reported patients
- Increased nuchal translucencyHPOHP:0010880
- 1 of 3 reported patients · Fetal onset
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
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Noonan syndrome 10
- Also called
- LZTR1 Noonan syndromeNoonan syndrome caused by mutation in LZTR1Noonan syndrome type 10NS10