clinical features
Last reviewed 01/2018
More than half of patients have associated somatic stigmata, most commonly, nerve deafness, colour blindness, mid-line cranio-facial deformities such as cleft palate or harelip, and renal abnormalities. Most are of normal or above average stature.
Females may present with primary amenorrhoea; males with cryptorchidism.
Deafness is associated.