# cardiac anomalies-developmental delay-facial dysmorphism syndrome

> human disease

**Wikidata**: [Q55784994](https://www.wikidata.org/wiki/Q55784994)  
**Source**: https://4ort.xyz/entity/cardiac-anomalies-developmental-delay-facial-dysmorphism-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000123066/MONDO_0014773)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000123066/Orphanet_369891)
6. UMLS 2023