# mandibulofacial dysostosis-microcephaly syndrome

> autosomal dominant disease characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia,

**Wikidata**: [Q22965506](https://www.wikidata.org/wiki/Q22965506)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Mandibulofacial_dysostosis-microcephaly_syndrome)  
**Source**: https://4ort.xyz/entity/mandibulofacial-dysostosis-microcephaly-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000108883/MONDO_0012516)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)