Abnormal renal morphology, 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 septum pellucidum, Absent testis, Absent thumb, Aganglionic megacolon, Agenesis of corpus callosum, 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, Cafe-au-lait spot, Cataract, Chiari malformation, Choanal atresia, Chromosomal breakage induced by crosslinking agents, Cleft palate, Clinodactyly of the 5th finger, Clubbing of toes, Colpocephaly, Conductive hearing impairment, Cranial nerve paralysis, Cryptorchidism, Decreased body weight, Decreased fertility in males, Decreased response to growth hormone stimulation test, Dolichocephaly, Duodenal stenosis, Epicanthus, Facial asymmetry, Finger syndactyly, Frontal bossing, Fused cervical vertebrae, Global developmental delay, Growth delay, Hearing abnormality, Hearing impairment, High palate, Hip dislocation, Horseshoe kidney, Hydrocephalus, Hydroureter, Hyperreflexia, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadism, Hypopigmented skin patches, Hypoplasia of the radius, Hypoplasia of the ulna, Hypospadias, Hypothyroidism, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Leukopenia, Meckel diverticulum, Microcephaly, Micrognathia, Microphthalmia, Multiple cafe-au-lait spots, Myelodysplasia, Myopia, Neoplasm, Neutropenia, Nystagmus, Oligohydramnios, Optic nerve hypoplasia, Pallor, Patent ductus arteriosus, Patent foramen ovale, Pes planus, Proptosis, Ptosis, Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Reduced bone mineral density, Renal hypoplasia, Renal hypoplasia/aplasia, Renal insufficiency, Scoliosis, Short 1st metacarpal, Short neck, Short palpebral fissure, Short stature, Short thumb, Sloping forehead, Spina bifida, Strabismus, Tetralogy of Fallot, Thrombocytopenia, Toe syndactyly, Tracheoesophageal fistula, Triangular face, Triphalangeal thumb, Umbilical hernia, Upslanted palpebral fissure, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux, Visual impairment, Weight loss, obsolete External ear malformation