Abnormal spermatogenesis, Abnormal testis morphology, Abnormal thumb morphology, Abnormality of blood and blood-forming tissues, Abnormality of chromosome stability, Abnormality of femur morphology, Abnormality of skin pigmentation, Abnormality of the hypothalamus-pituitary axis, Abnormality of the liver, Abnormality of the orbital region, Abnormality of the ulna, Abnormality of the upper limb, Abnormality of the urinary system, Abnormality of the uterus, Abnormality of vision, Absent testis, Aganglionic megacolon, Almond-shaped palpebral fissure, Anal atresia, Anemia, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the uvula, Arteriovenous malformation, Astigmatism, Atrial septal defect, Azoospermia, Bicornuate uterus, Cataract, Choanal atresia, Cleft palate, Clinodactyly of the 5th finger, Clubbing of toes, Cranial nerve paralysis, Cryptorchidism, Decreased fertility in males, Decreased testicular size, Dolichocephaly, Duodenal stenosis, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Epicanthus, Facial asymmetry, Finger syndactyly, Frontal bossing, Global developmental delay, Growth delay, Hearing abnormality, Hearing impairment, High palate, Hip dislocation, Hydrocephalus, Hydroureter, Hyperreflexia, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadism, Hypopigmented skin patches, Hypoplasia of the ulna, Hypospadias, Increased circulating gonadotropin level, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Leukopenia, Meckel diverticulum, Microcephaly, Micrognathia, Microphthalmia, Multiple cafe-au-lait spots, Myelodysplasia, Neoplasm, Non-obstructive azoospermia, Nystagmus, Obstructive azoospermia, Oligohydramnios, Patent ductus arteriosus, Pes planus, Phenotypic abnormality, Proptosis, Ptosis, Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Reduced bone mineral density, Renal hypoplasia/aplasia, Renal insufficiency, Scoliosis, Short palpebral fissure, Short stature, Sloping forehead, Spina bifida, Strabismus, Tetralogy of Fallot, Thrombocytopenia, Toe syndactyly, Tracheoesophageal fistula, Triphalangeal thumb, Umbilical hernia, Upslanted palpebral fissure, Ventriculomegaly, Visual impairment, Weight loss, obsolete External ear malformation