Asplenia, Bowing of the long bones, Cataract, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Depressed nasal ridge, Encephalocele, Epicanthus, Frontal bossing, Full cheeks, Furrowed tongue, Hydrocephalus, Hypertelorism, Hypospadias, Lobar holoprosencephaly, Male pseudohermaphroditism, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Narrow palpebral fissure, obsolete Low-set, posteriorly rotated ears, Occipital encephalocele, Oligohydramnios, Optic atrophy, Pancreatic cysts, Pancreatic fibrosis, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial hand polydactyly, Ptosis, Renal cyst, Sacral dimple, Sclerocornea, Seizure, Situs inversus totalis, Sloping forehead, Talipes equinovarus, True hermaphroditism, Ureteral duplication, Urethral atresia

abnormal eye muscle morphology, abnormal heart position or orientation, abnormal hepatic vein morphology, abnormal hypoglossal nerve topology, abnormal infrahyoid muscle connection, abnormal intestine placement, abnormal intrathoracic topology of vagus nerve, abnormal maxilla morphology, abnormal mitral valve cusp morphology, abnormal Mullerian duct morphology, abnormal nasal septum morphology, abnormal neurohypophysis morphology, abnormal optic chiasm morphology, abnormal optic cup morphology, abnormal optic stalk morphology, abnormal pectinate muscle morphology, abnormal regulatory T cell physiology, abnormal subclavian artery origin, abnormal T cell differentiation, abnormal T-helper 17 cell differentiation, abnormal thymus topology, abnormal tongue epithelium morphology, abnormal umbilical vein topology, abnormal vertebral arch morphology, abnormal vertebral artery topology, abnormal vertebral body morphology, abnormal vitelline vein topology, abnormal Wolffian duct connection, absent adenohypophysis, absent ductus venosus valve, absent intrahepatic inferior vena cava segment, absent oculomotor nerve, absent segment of anterior cerebral artery, absent segment of posterior cerebral artery, absent upper incisors, additional anastomosis between intracranial vertebral arteries, anastomosis between internal carotid artery and basilar artery, aortic arch coarctation, aphakia, blood in lymph vessels, decreased Langerhans cell number, decreased susceptibility to experimental autoimmune encephalomyelitis, decreased T-helper 17 cell number, double ureter, dual inferior vena cava, ductus venosus stenosis, ectopic ovary, embryo cyst, embryo tumor, enlarged lymphatic vessel, fusion of vertebral arches, growth/size/body region phenotype, immune system phenotype, increased regulatory T cell number, increased T-helper 1 cell number, inverse situs of great intrathoracic arteries, left pulmonary isomerism, left sided inferior vena cava, persistent right 6th pharyngeal arch artery, persistent right dorsal aorta, preweaning lethality, complete penetrance, reduced sympathetic cervical ganglion size, short tongue, small pancreas, small spleen, small superior cervical ganglion, small superior vagus ganglion, subcutaneous edema, symmetric azygos veins, thin motoric part of trigeminal nerve, thin oculomotor nerve, thoracoschisis