# autosomal dominant Robinow syndrome 2

> Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has material basis in heterozygous mutation in the DVL1 gene on chromosome 1p36

**Wikidata**: [Q28065570](https://www.wikidata.org/wiki/Q28065570)  
**Source**: https://4ort.xyz/entity/autosomal-dominant-robinow-syndrome-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)