# KBG syndrome

> syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton

**Wikidata**: [Q1718432](https://www.wikidata.org/wiki/Q1718432)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/KBG_syndrome)  
**Source**: https://4ort.xyz/entity/kbg-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/cf3e887e-8da4-45ea-bec8-9565f8246bc9--2019-11-26T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf3e887e-8da4-45ea-bec8-9565f8246bc9-2019-11-26T170000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000167522/MONDO_0007846)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)