# Opitz-GBBB syndrome

> monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form

**Wikidata**: [Q3508750](https://www.wikidata.org/wiki/Q3508750)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Opitz_G/BBB_syndrome)  
**Source**: https://4ort.xyz/entity/opitz-gbbb-syndrome


## References

1. Disease Ontology
2. The MID1 gene product in physiology and disease
3. Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature
4. MID1 mutations in patients with X-linked Opitz G/BBB syndrome
5. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
6. Monarch Disease Ontology release 2018-06-29
7. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)