Weill-Marchesani syndrome 1
Findings
No curated finding names Weill-Marchesani syndrome 1 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 ADAMTS10 gene.
Definition from the Mondo Disease Ontology (MONDO:0010194), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- BrachydactylyHPOHP:0001156
- 6 of 6 reported patients
- Ectopia lentisHPOHP:0001083
- 6 of 6 reported patients
- GlaucomaHPOHP:0000501
- 6 of 6 reported patients
- High myopiaHPOHP:0011003
- 6 of 6 reported patients
- Joint stiffnessHPOHP:0001387
- 6 of 6 reported patients
- MicrospherophakiaHPOHP:0030961
- 6 of 6 reported patients
- Short statureHPOHP:0004322
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.
- ADAMTS10HGNC:13201
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: Weill-Marchesani syndrome 1
- Also called
- ADAMTS10 Weill-Marchesani syndromeWeill-Marchesani syndrome 1, recessiveWeill-Marchesani syndrome caused by mutation in ADAMTS10Weill-Marchesani syndrome type 1