Autistic behavior, Azoospermia, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Clitoral hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased serum testosterone concentration, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Dolichocephaly, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Fused labia minora, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hypergonadotropic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypospadias, Increased circulating gonadotropin level, Intrauterine growth retardation, Male infertility, Micropenis, Nephroblastoma, Nephrotic syndrome, Osteoporosis, Ovarian gonadoblastoma, Preauricular pit, Primary amenorrhea, Primary gonadal insufficiency, Proptosis, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Testicular gonadoblastoma, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges, Urogenital sinus anomaly, Vanishing testis

abnormal heart echocardiography feature, abnormal heart shape, abnormal heart ventricle outflow tract morphology, abnormal involution of the mammary gland, abnormal lung development, abnormal mammary gland morphology, abnormal myocardial fiber physiology, abnormal primary sex determination, abnormal right lung middle lobe morphology, absent coronary vessels, absent right lung accessory lobe, cardiac fibrosis, cardiovascular system phenotype, common atrioventricular valve, decreased cardiac muscle contractility, decreased ventricle muscle contractility, dilated heart, dilated heart atrium, dilated heart ventricle, embryonic lethality during organogenesis, complete penetrance, enlarged heart atrium, heart right ventricle outflow tract stenosis, increased atrioventricular cushion size, increased cardiomyocyte apoptosis, lethality throughout fetal growth and development, complete penetrance, no abnormal phenotype detected, pericardial edema, perinatal lethality, complete penetrance, postnatal lethality, complete penetrance, premature death, prenatal lethality, incomplete penetrance, primary sex reversal, reproductive system phenotype, skin edema, small liver, supravalvar pulmonary trunk stenosis, thick pulmonary valve, thin diaphragm muscle, thin myocardium, thin myocardium compact layer, thin ventricle myocardium compact layer, thin ventricular wall, tricuspid valve atresia, ventricular myocardium compact layer hypoplasia