LEOPARD syndrome 3
Findings
No curated finding names LEOPARD syndrome 3 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 BRAF gene.
Definition from the Mondo Disease Ontology (MONDO:0013380), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
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.
- Cubitus valgusHPOHP:0002967
- 1 of 1 reported patient
- Curly hairHPOHP:0002212
- 2 of 2 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- DolichocephalyHPOHP:0000268
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Dry skinHPOHP:0000958
Show the remaining 18
- Low posterior hairlineHPOHP:0002162
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 1 reported patient
- Multiple lentiginesHPOHP:0001003
- 2 of 2 reported patients
- Narrow foreheadHPOHP:0000341
- 1 of 1 reported patient
- Neonatal hypotoniaHPOHP:0001319
- 1 of 1 reported patient
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.
- BRAFHGNC:1097
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: LEOPARD syndrome 3
- Also called
- BRAF Noonan syndrome with multiple lentiginesLeopard syndrome type 3Noonan syndrome with multiple lentigines caused by mutation in BRAF