# Weill-Marchesani syndrome

> autosomal genetic disease characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities

**Wikidata**: [Q3961695](https://www.wikidata.org/wiki/Q3961695)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Weill–Marchesani_syndrome)  
**Source**: https://4ort.xyz/entity/weill-marchesani-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. UniProt
5. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
6. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix
7. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature
8. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)