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, Absent thumb, 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, Blepharophimosis, Bulbous nose, Cafe-au-lait spot, 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, Facial asymmetry, Finger syndactyly, Frontal bossing, 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, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Leukopenia, Meckel diverticulum, Microcephaly, Micrognathia, Microphthalmia, Multiple cafe-au-lait spots, Myelodysplasia, Neoplasm, Nystagmus, Oligohydramnios, Pancytopenia, Patent ductus arteriosus, Pelvic kidney, 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, Squamous cell carcinoma, Strabismus, Tetralogy of Fallot, Thrombocytopenia, Toe syndactyly, Tracheoesophageal fistula, Triphalangeal thumb, Umbilical hernia, Upslanted palpebral fissure, Ventriculomegaly, Visual impairment, Vitiligo, Weight loss, obsolete External ear malformation

absent corpus luteum, absent mature ovarian follicles, absent oocytes, chromosomal instability, decreased body size, decreased common myeloid progenitor cell number, decreased litter size, domed cranium, early cellular replicative senescence, embryonic lethality, incomplete penetrance, enlarged cranium, increased caudal vertebrae number, increased circulating glucose level, increased erythrocyte cell number, increased physiological sensitivity to xenobiotic, increased sensitivity to induced cell death, induced chromosome breakage, lethality throughout fetal growth and development, incomplete penetrance, nervous system phenotype, obstructive hydrocephaly, perinatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, reduced female fertility, reduced male fertility, thin cerebral cortex