Main clinical features
|
46,XY complete gonadal dysgenesis in association with extragonadal anomalies, including low birth weight, typical facial gestalt, rod and cone dystrophy
also sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay
facial dysmorphy with flat face, flat vertex, unusual hair whorls, unruly scalp hair, frontal upsweep, arched and sparse eyebrows, narrow forehead with metopic ridge, bilateral epicanthal folds, thin lips, narrow mouth opening |