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, Dolichocephaly, Duodenal stenosis, Epicanthus, External ear malformation, 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, Leukopenia, Meckel diverticulum, Microcephaly, Micrognathia, Microphthalmia, Multiple cafe-au-lait spots, Myelodysplasia, Neoplasm, Nystagmus, Oligohydramnios, 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, 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

absent primordial germ cells, arrest of spermatogenesis, cellular phenotype, decreased birth body size, decreased body size, decreased cell proliferation, decreased embryo size, decreased enterocyte cell number, decreased fetal size, decreased male germ cell number, decreased oocyte number, decreased primordial germ cell number, decreased testis weight, ectopic Sertoli cells, embryonic lethality, incomplete penetrance, increased enterocyte apoptosis, increased forebrain apoptosis, increased mean corpuscular hemoglobin, increased primordial germ cell apoptosis, lethality during fetal growth through weaning, incomplete penetrance, nervous system phenotype, ovary atrophy, reproductive system phenotype, seminiferous tubule degeneration, slow postnatal weight gain, small ovary, weakness