46,xx sex reversal 5
Your Results
Sign InDescription
SRXX5 is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and congenital diaphragmatic hernia (Bashamboo et al., 2018).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
0