LEOPARD syndrome 2
Findings
No curated finding names LEOPARD syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012691), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
18 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 sternum morphologyHPOHP:0000766
- Cafe-au-lait spotHPOHP:0000957
- Cubitus valgusHPOHP:0002967
- Curly hairHPOHP:0002212
- Depressed nasal bridgeHPOHP:0005280
- DolichocephalyHPOHP:0000268
- Downslanted palpebral fissuresHPOHP:0000494
- Dry skinHPOHP:0000958
- EpicanthusHPOHP:0000286
Show the remaining 6
- Mandibular prognathiaHPOHP:0000303
- Multiple lentiginesHPOHP:0001003
- Short neckHPOHP:0000470
- Short statureHPOHP:0004322
- Thick lower lip vermilionHPOHP:0000179
- Webbed neckHPOHP:0000465
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.
- RAF1HGNC:9829
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: LEOPARD syndrome 2
- Also called
- Leopard syndrome type 2