# mental retardation, autosomal dominant 20

> autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of MEF2C on chromosome 5q14.3

**Wikidata**: [Q50349624](https://www.wikidata.org/wiki/Q50349624)  
**Source**: https://4ort.xyz/entity/mental-retardation-autosomal-dominant-20


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)