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GENATLAS PHENOTYPE

last update : 26-08-2012

Symbol	AGOTC2
Location	14q22.3
Name	agnathia-otocephaly 2
Corresponding gene	OTX2
Main clinical features	mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia associated with holoprosencephaly, skeletal, genitourinary, and cardiovascular anomalies, and situs inversus
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
	multisystem/generalized
Type	disease

Remark(s)