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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
    Remark(s)