# Simpson-Golabi-Behmel syndrome type 2

> X-linked recessive disease that has material basis in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems

**Wikidata**: [Q55999497](https://www.wikidata.org/wiki/Q55999497)  
**Source**: https://4ort.xyz/entity/simpson-golabi-behmel-syndrome-type-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000046651/MONDO_0010265)