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GENATLAS PHENOTYPE
last update : 03/12/2008
Symbol HPE16
Location 8q24
Name holoprosencephaly 16
Corresponding gene FOXH1
Main clinical features
  • complex brain malformation resulting from incomplete cleavage of the prosencephalon
  • expression is variable, ranging from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial cases
  • developmental delay and feeding difficulties, epilepsy, instability of temperature, heart rate and respiration
  • facial anomalies, like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitary median maxillary central incisor in minor forms
  • Genetic determination not applicable
    Function/system disorder neurology
    Type malformation
    Remark(s)