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Metadata
ID DOID:0060341
Name agnathia-otocephaly complex
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.
https://www.ncbi.nlm.nih.gov/pubmed/17438667
Xrefs

ICD10CM:Q18.2

MESH:C562503

MIM:202650

ORDO:990

Subsets

DO_rare_slim

Synonyms

agnathia-holoprosencephaly-situs inversus syndrome [EXACT]

dysgnathia complex agnathia-holoprosencephaly [EXACT]

holoprosencephaly-agnathia [EXACT]

otocephaly [EXACT]

Parent Relationships

is_a physical disorder

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