Phenotype details |
upper urinary tract prenatal hydronephrosis, lower urinary tract bilateral vesicoureteral reflux grade 3, urethral stricture, hydrocele testis; facial dysmorphism (wide interpupillary distance, mild epicanthal folds, long nose with a bulbous tip, farsightedness, low set posteriorly rotated ears with a simple helix and protuberant ears), hyper-extensibility of the joints; speech delay |