DISEASES

Disease-gene associations mined from literature

Human genes for agnathia-otocephaly complex

Agnathia-otocephaly complex [DOID:0060341]

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.

Synonyms:  agnathia-otocephaly complex,  agnathiaotocephaly complex,  agnathia-otocephaly complexes,  DOID:0060341,  agnathia-holoprosencephaly-situs inversus syndrome ...