Aganglionic megacolon, Agenesis of corpus callosum, Ambiguous genitalia, Anencephaly, Anophthalmia, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the tongue, Apnea, Asplenia, Ataxia, Bile duct proliferation, Biparietal narrowing, Bowing of the long bones, Brainstem dysplasia, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Chronic hepatic failure, Cirrhosis, Cleft palate, Cleft upper lip, Cognitive impairment, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Delayed gross motor development, Depressed nasal ridge, Elevated circulating hepatic transaminase concentration, Elongated superior cerebellar peduncle, Encephalocele, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Full cheeks, Furrowed tongue, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hand polydactyly, Hepatic fibrosis, Hepatomegaly, Highly arched eyebrow, Hydrocephalus, Hyperreflexia, Hypertelorism, Hypertension, Hypometric saccades, Hypoplasia of the brainstem, Hypotonia, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Male pseudohermaphroditism, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Neonatal breathing dysregulation, Neoplasm of the liver, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic disc coloboma, Orofacial cleft, Pancreatic cysts, Pancreatic fibrosis, Polymicrogyria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial hand polydactyly, Prominent nasal bridge, Ptosis, Renal cyst, Renal insufficiency, Retinal dystrophy, Round face, Sclerocornea, Scoliosis, Seizure, Situs inversus totalis, Sloping forehead, Spasticity, Splenomegaly, Strabismus, Tachypnea, Talipes equinovarus, Thickened superior cerebellar peduncle, Tremor, True hermaphroditism, Ureteral duplication, Urethral atresia, Vascular dilatation, Visual impairment, Wide mouth

abnormal carotid artery morphology, abnormal coronary sinus connection, abnormal cranial blood vasculature morphology, abnormal cranium morphology, abnormal ductus venosus valve topology, abnormal eye muscle morphology, abnormal heart position or orientation, abnormal hepatic portal vein formation, abnormal hypoglossal nerve topology, abnormal inferior vena cava topology, abnormal inferior vena cava valve morphology, abnormal internal carotid artery topology, abnormal intestine placement, abnormal intrathoracic topology of vagus nerve, abnormal left-right axis patterning, abnormal limb bud morphology, abnormal mandible morphology, abnormal maxilla morphology, abnormal nasal cavity morphology, abnormal nasal septum morphology, abnormal optic cup morphology, abnormal optic stalk morphology, abnormal palate morphology, abnormal pancreas topology, abnormal placenta morphology, abnormal placental labyrinth vasculature morphology, abnormal proximal convoluted tubule morphology, abnormal right lung morphology, abnormal subclavian artery origin, abnormal umbilical vein topology, abnormal ventral pancreas morphology, abnormal vertebral arch morphology, abnormal vertebral artery origin, abnormal vertebral body morphology, abnormal viscerocranium morphology, abnormal vitelline vein connection, absent Rathke's pouch, absent adenohypophysis, absent brain internal capsule, absent canalicular internal carotid artery segment, absent connection between subcutaneous lymph vessels and lymph sac, absent ductus venosus valve, absent floor plate, absent hypoglossal nerve, absent intracranial segment of vertebral artery, absent intrahepatic inferior vena cava segment, absent oculomotor nerve, absent olfactory bulb, absent optic chiasm, absent parasellar internal carotid artery, absent segment of posterior cerebral artery, absent sublingual gland, absent superior cervical ganglion, absent vertebral body, anastomosis between internal carotid artery and basilar artery, broad limb buds, decreased corpus callosum size, dilated liver sinusoidal spaces, enlarged pericardium, fusion of vertebral arches, heterochrony, inverse situs of great intrathoracic arteries, left pulmonary isomerism, liver hemorrhage, mandible hypoplasia, neonatal lethality, complete penetrance, perinatal lethality, complete penetrance, persistent right 6th pharyngeal arch artery, persistent right dorsal aorta, placenta hemorrhage, placenta necrosis, preweaning lethality, complete penetrance, retro-esophageal left subclavian artery, small Rathke's pouch, small dorsal root ganglion, small olfactory bulb, small superior cervical ganglion, subcutaneous edema, symmetric azygos veins, thin facial nerve, thin hypoglossal nerve, thin motoric part of trigeminal nerve, thoracoschisis