# macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

> human disease

**Wikidata**: [Q55784953](https://www.wikidata.org/wiki/Q55784953)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Smith–Kingsmore_syndrome)  
**Source**: https://4ort.xyz/entity/macrocephaly-intellectual-disability-neurodevelopmental-disorder-small-thorax-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces