Abnormal nervous system morphology, Abnormal preputium morphology, 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 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, Breast carcinoma, 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 genital hypoplasia, Facial asymmetry, Finger syndactyly, Frontal bossing, Global developmental delay, Growth delay, Hearing abnormality, Hearing impairment, High palate, Hip dislocation, Hydrocephalus, Hydronephrosis, 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, Melanoma, Microcephaly, Micrognathia, Microphthalmia, Multiple cafe-au-lait spots, Myelodysplasia, Neoplasm, Neoplasm of the pancreas, Nystagmus, Oligohydramnios, Ovarian carcinoma, Ovarian neoplasm, Patent ductus arteriosus, Pes planus, Primary peritoneal carcinoma, Proptosis, Prostate cancer, Ptosis, Pyridoxine-responsive sideroblastic anemia, Rectal atresia, Recurrent urinary tract infections, Reduced bone mineral density, Renal cyst, Renal hypoplasia/aplasia, Renal insufficiency, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Sloping forehead, Spina bifida, Stage 5 chronic kidney disease, Strabismus, Tetralogy of Fallot, Thrombocytopenia, Toe syndactyly, Tracheoesophageal fistula, Triphalangeal thumb, Umbilical hernia, Upslanted palpebral fissure, Ventriculomegaly, Visual impairment, Weight loss, obsolete External ear malformation

embryonic lethality, complete penetrance, preweaning lethality, complete penetrance