Abnormality of the hypothalamus-pituitary axis, Abnormality of the liver, Abnormality of the orbital region, Abnormality of the upper limb, Abnormality of the urinary system, Abnormality of the uterus, Abnormality of vision, Abnormal localization of kidney, Abnormal nervous system morphology, Abnormal preputium morphology, Abnormal renal morphology, Abnormal testis morphology, Abnormal thumb morphology, 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, Bone marrow hypocellularity, Cataract, Choanal atresia, Cleft palate, Clinodactyly of the 5th finger, Clubbing of toes, Cranial nerve paralysis, Cryptorchidism, Decreased fertility in males, Decreased total leukocyte count, Dolichocephaly, Duodenal stenosis, Duplication of thumb phalanx, 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, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Meckel diverticulum, Microcephaly, Micrognathia, Microphthalmia, Multiple cafe-au-lait spots, Myelodysplasia, Neoplasm, Nystagmus, obsolete Abnormality of the ulna, obsolete External ear malformation, Oligohydramnios, Pancytopenia, Patent ductus arteriosus, Pes planus, 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, Short thumb, 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