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GENATLAS PHENOTYPE

last update : 14-03-2012

Symbol	AGOTC
Location	1q24.2
Name	agnathia-otocephaly
Other name(s)	holoprosencephaly agnathia
Corresponding gene	PRRX1
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	not applicable
Function/system disorder	neurology
	ear
Type	disease

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