Abnormality of the ureter, Abnormality of the uterus, Accessory spleen, Adrenal hypoplasia, Aganglionic megacolon, Agenesis of corpus callosum, Ambiguous genitalia, Ambiguous genitalia, female, Ambiguous genitalia, male, Anal atresia, Anencephaly, Anophthalmia, Anteverted nares, 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, Breech presentation, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral hypoplasia, Chiari malformation, Cleft palate, Cleft upper lip, Clinodactyly, Coarctation of aorta, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Depressed nasal ridge, Dextrocardia, Downslanted palpebral fissures, Elevated amniotic fluid alpha-fetoprotein, Encephalocele, Episodic tachypnea, External genital hypoplasia, Feeding difficulties, Feeding difficulties in infancy, Finger syndactyly, Foot polydactyly, Full cheeks, Furrowed tongue, Gait disturbance, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hand polydactyly, Hearing impairment, Hepatic fibrosis, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the bladder, Hypoplasia of the ovary, Hypotelorism, Hypotonia, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Iris coloboma, Large placenta, Lobar holoprosencephaly, Lobulated tongue, Long face, Low-set ears, Low-set, posteriorly rotated ears, Male pseudohermaphroditism, Medial flaring of the eyebrow, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Natal tooth, Nephrotic syndrome, Neurological speech impairment, Nystagmus, Obesity, Occipital encephalocele, Oculomotor apraxia, Olfactory lobe agenesis, Oligohydramnios, Omphalocele, Optic atrophy, Orofacial cleft, Pancreatic cysts, Pancreatic fibrosis, Patent ductus arteriosus, Pigmentary retinopathy, Polycystic kidney dysplasia, Polydactyly, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial hand polydactyly, Prominent nasal bridge, Ptosis, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Retinal coloboma, Retinal dystrophy, Retinopathy, Rod-cone dystrophy, Sclerocornea, Scoliosis, Seizure, Short neck, Short stature, Single umbilical artery, Situs inversus totalis, Skeletal muscle atrophy, Sloping forehead, Splenomegaly, Strabismus, Syndactyly, Talipes equinovarus, Tremor, True hermaphroditism, Ureteral duplication, Urethral atresia, Vascular dilatation, Visual loss, Webbed neck, Wide mouth

abnormal ear morphology, abnormal embryo turning, abnormal endochondral bone ossification, abnormal ependyma motile cilium morphology, abnormal floor plate morphology, abnormal fontanelle morphology, abnormal forebrain development, abnormal frontal bone morphology, abnormal heart looping, abnormal loop of Henle ascending limb thick segment morphology, abnormal motile primary cilium morphology, abnormal nail morphology, abnormal neocortex morphology, abnormal occipital bone morphology, abnormal orientation of outer hair cell stereociliary bundles, abnormal ovary development, abnormal pollex morphology, abnormal posterior cranial fossa morphology, abnormal renal glomerular capsule morphology, abnormal renal tubule epithelial cell primary cilium morphology, abnormal sternum morphology, abnormal stomach position or orientation, abnormal supraoccipital bone morphology, abnormal urinary system development, absent maxilla, absent nodal flow, decreased embryonic cilium length, decreased embryonic cilium number, decreased kidney epithelial cell primary cilium length, dilated kidney collecting duct, dilated nephron, dilated renal glomerular capsule, domed cranium, duplex kidney, ectopic ovary, embryonic lethality during organogenesis, incomplete penetrance, enlarged fourth ventricle, fused right lung lobes, incomplete rostral neuropore closure, increased cell proliferation, increased kidney cell proliferation, increased neuron apoptosis, left pulmonary isomerism, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, mandible hypoplasia, neonatal lethality, complete penetrance, pointed snout, polyphalangy, presphenoid bone hypoplasia, respiratory system phenotype, situs inversus, small heart, split sternal manubrium