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MIRAGE
agnathia-otocephaly complex
Summary
- Synonym
-
- agnathia-holoprosencephaly-situs inversus syndrome
- dysgnathia complex agnathia-holoprosencephaly
- holoprosencephaly-agnathia
- otocephaly
- Definition
- A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
- Super Class
- physical disorder
External Links
- Disease Ontology
- DOID:0060341
- MeSH
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3TLI0 | Trafficking protein particle complex subunit 10 |
