Weill-Marchesani syndrome 3
Findings
No curated finding names Weill-Marchesani syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013899), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Short statureHPOHP:0004322
- 10 of 12 reported patients
- BrachydactylyHPOHP:0001156
- 5 of 12 reported patients
- Joint stiffnessHPOHP:0001387
- 5 of 12 reported patients
- Pulmonic stenosisHPOHP:0001642
- 5 of 12 reported patients
- Aortic valve stenosisHPOHP:0001650
- 4 of 12 reported patients
- Ectopia lentisHPOHP:0001083
- 3 of 12 reported patients
- High myopiaHPOHP:0011003
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.
- LTBP2HGNC:6715
- Moderate · Ambry Genetics · Autosomal recessive · 2017
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
Other names
4 names
Resolves to: Weill-Marchesani syndrome 3
- Also called
- LTBP2 Weill-Marchesani syndromeWeill-Marchesani syndrome 3, recessiveWeill-Marchesani syndrome caused by mutation in LTBP2Weill-Marchesani syndrome type 3