# split hand-foot malformation 1 with sensorineural hearing loss

> split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has material basis in homozygous mutation in the DLX5 gene on chromosome 7q21

**Wikidata**: [Q30988764](https://www.wikidata.org/wiki/Q30988764)  
**Source**: https://4ort.xyz/entity/split-hand-foot-malformation-1-with-sensorineural-hearing-loss


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)