Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 12-04-2018
Symbol VCHD
Location 15q26.2
Name virilization and congenital heart disease (CHD)
Corresponding gene NR2F2
Main clinical features
  • genital virilization, congenital heart disease (CHD), and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and congenital diaphragmatic hernia
  • Genetic determination not applicable
    Function/system disorder cardiovascular
    sex-genitalia
    Type disease
    Remark(s) . is caused by protein-truncating mutations in the orphan nuclear receptor NR2F2 (PMID: 29478779))