Cataract, Cholestasis, Chorioretinal atrophy, Cirrhosis, Clinodactyly of the 5th finger, Coarctation of aorta, Cryptorchidism, Deeply set eye, Depressed nasal bridge, Dolichocephaly, Duplicated collecting system, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Failure to thrive, Focal segmental glomerulosclerosis, Hemivertebrae, Hepatic failure, Hepatocellular carcinoma, Hypercholesterolemia, Hypertelorism, Hypertriglyceridemia, Hypoplasia of the ulna, Intellectual disability, mild, Intrauterine growth retardation, Long nose, Macrotia, Microcornea, Multiple small medullary renal cysts, Myopia, Papillary thyroid carcinoma, Peripheral pulmonary artery stenosis, Pigmentary retinopathy, Posterior embryotoxon, Preauricular pit, Prolonged neonatal jaundice, Proptosis, Reduced number of intrahepatic bile ducts, Renal artery stenosis, Renal dysplasia, Renal hypoplasia, Renal tubular acidosis, Short distal phalanx of finger, Specific learning disability, Stage 5 chronic kidney disease, Strabismus, Stroke, Tetralogy of Fallot, Thin vermilion border, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux

abnormal coronary vessel morphology, abnormal crista ampullaris morphology, abnormal feces composition, abnormal liver vasculature morphology, abnormal neuron differentiation, abnormal organ of Corti morphology, abnormal palate morphology, abnormal primary palate development, abnormal pulmonary trunk morphology, abnormal retina vasculature morphology, abnormal semicircular canal ampulla morphology, abnormal superior semicircular canal morphology, abnormal utricular macula morphology, abnormal vascular branching morphogenesis, abnormal vascular development, abnormal vascular smooth muscle morphology, abnormal vitelline vascular remodeling, abnormal vitelline vasculature morphology, absent cochlear hair cells, absent cochlear outer hair cells, absent tunnel of Corti, absent vestibular hair cells, cardiovascular system phenotype, circling, decreased angiogenesis, decreased body size, decreased cochlear outer hair cell number, decreased embryo size, decreased neuronal precursor cell number, dilated bile duct, dilated heart, distended pericardium, embryo tissue necrosis, embryonic growth retardation, embryonic lethality during organogenesis, embryonic lethality during organogenesis, complete penetrance, enlarged pericardium, fetal growth retardation, head bobbing, head shaking, head tossing, hearing/vestibular/ear phenotype, hematopoietic system phenotype, impaired balance, increased circulating alanine transaminase level, increased circulating alkaline phosphatase level, increased circulating aspartate transaminase level, increased circulating gamma-glutamyl transferase level, increased circulating lactate dehydrogenase level, increased cochlear inner hair cell number, increased heart right ventricle size, increased neuron number, increased systemic arterial systolic blood pressure, irregularly shaped pupil, kinked neural tube, lethality throughout fetal growth and development, incomplete penetrance, lethality, incomplete penetrance, liver hemorrhage, liver/biliary system phenotype, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, pale yolk sac, pericardial edema, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, positive geotaxis, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, renal/urinary system phenotype, retroesophageal right subclavian artery, short maxilla, slow postnatal weight gain, small utricle, thick heart valve cusps, thick ventricular wall