Abnormal renal morphology, Abnormal testis morphology, Abnormal thumb morphology, Abnormality of blood and blood-forming tissues, Abnormality of cardiovascular system morphology, 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 radius, Absent testis, Absent thumb, Aganglionic megacolon, Almond-shaped palpebral fissure, Anal atresia, Anemia, Anemic pallor, 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, Bruising susceptibility, Cafe-au-lait spot, Cataract, Choanal atresia, Chromosomal breakage induced by crosslinking agents, Cleft palate, Clinodactyly of the 5th finger, Clubbing of toes, Complete duplication of thumb phalanx, Cranial nerve paralysis, Cryptorchidism, Decreased fertility in males, Deficient excision of UV-induced pyrimidine dimers in DNA, Dolichocephaly, Duodenal stenosis, Duplicated collecting system, Ectopic kidney, Epicanthus, External ear malformation, Facial asymmetry, Finger syndactyly, Frontal bossing, Global developmental delay, Growth delay, Hearing abnormality, Hearing impairment, High palate, Hip dislocation, Horseshoe kidney, Hydrocephalus, Hydroureter, Hypergonadotropic hypogonadism, Hyperreflexia, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadism, Hypopigmented skin patches, Hypoplasia of the ulna, Hypospadias, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Leukemia, Leukopenia, Meckel diverticulum, Microcephaly, Micrognathia, Microphthalmia, Multiple cafe-au-lait spots, Myelodysplasia, Neoplasm, Neutropenia, Nystagmus, Oligohydramnios, Pancytopenia, Patent ductus arteriosus, Pes planus, Prolonged G2 phase of cell cycle, Proptosis, Ptosis, Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Reduced bone mineral density, Renal agenesis, Renal hypoplasia/aplasia, Renal insufficiency, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Sloping forehead, Small for gestational age, Spina bifida, Strabismus, Tetralogy of Fallot, Thrombocytopenia, Toe syndactyly, Tracheoesophageal fistula, Triphalangeal thumb, Umbilical hernia, Upslanted palpebral fissure, Ventriculomegaly, Visual impairment, Weight loss

decreased body size, decreased erythroblast number, decreased erythrocyte cell number, decreased hematopoietic stem cell number, decreased hemoglobin content, decreased mature ovarian follicle number, fetal growth retardation, increased adenoma incidence, increased cellular sensitivity to ionizing radiation, increased erythroblast number, increased physiological sensitivity to xenobiotic, increased sensitivity to induced cell death, perinatal lethality, incomplete penetrance, postnatal lethality, incomplete penetrance, prenatal lethality, incomplete penetrance, small ovary, weakness