Amblyopia, Anal atresia, Anal stenosis, Aniridia, Aplasia/Hypoplasia of the iris, Conjunctival dermolipoma, Corneal astigmatism, Decreased response to growth hormone stimulation test, Depressed nasal bridge, Everted lower lip vermilion, Glaucoma, Growth delay, Hearing impairment, Hypertelorism, Hypodontia, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplastic iris stroma, Hypospadias, Iris hypopigmentation, Megalocornea, Microcornea, Microdontia, Midface retrusion, Polycoria, Posterior embryotoxon, Prominent forehead, Prominent supraorbital ridges, Redundant skin, Rieger anomaly, Short philtrum, Strabismus, Telecanthus, Thin upper lip vermilion, Wide nasal bridge

abnormal developmental patterning, abnormal digestive system development, abnormal duodenum morphology, abnormal embryo development, abnormal embryo turning, abnormal embryonic tissue morphology, abnormal extraocular muscle morphology, abnormal eye development, abnormal eye distance/ position, abnormal eye electrophysiology, abnormal eye muscle development, abnormal eye muscle morphology, abnormal facial muscle morphology, abnormal fetal atrioventricular canal morphology, abnormal grip strength, abnormal heart and great artery attachment, abnormal heart development, abnormal heart left atrium auricular region morphology, abnormal heart position or orientation, abnormal hepatic portal vein morphology, abnormal left-right axis patterning, abnormal lens development, abnormal mandible morphology, abnormal maxilla morphology, abnormal mesoderm development, abnormal nervous system tract morphology, abnormal neuron differentiation, abnormal optic fissure closure, abnormal periorbital region morphology, abnormal pharyngeal arch artery morphology, abnormal pituitary gland development, abnormal retina layer morphology, abnormal rib development, abnormal rod electrophysiology, abnormal sixth pharyngeal arch artery morphology, abnormal stomach position or orientation, abnormal truncus arteriosus septation, abnormal ventral body wall morphology, absent corneal endothelium, absent eye anterior chamber, absent gonadotrophs, arrest of tooth development, atrioventricular septal defect, axial mesoderm hypoplasia, cardiovascular system phenotype, common atrioventricular valve, craniofacial phenotype, decreased b-wave amplitude, decreased body size, decreased embryo size, decreased follicle stimulating hormone level, decreased luteinizing hormone level, decreased somatotroph cell number, decreased thyrotroph cell number, decreased total retina thickness, delayed optic fissure closure, digestive/alimentary phenotype, double outlet right ventricle with atrioventricular septal defect, embryo phenotype, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality, complete penetrance, endocrine/exocrine gland phenotype, enlarged eye anterior chamber, failure of atrioventricular cushion closure, growth/size/body region phenotype, homeostasis/metabolism phenotype, incomplete embryo turning, increased circulating thyroid-stimulating hormone level, increased corneal epithelium thickness, increased exploration in new environment, increased grip strength, irregularly shaped pupil, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, neonatal lethality, complete penetrance, no abnormal phenotype detected, ocular hypertension, optic nerve cupping, postnatal lethality, incomplete penetrance, prenatal lethality, preweaning lethality, complete penetrance, prolonged QRS complex duration, reproductive system phenotype, right pulmonary isomerism, situs inversus, small Meckel's cartilage, small Rathke's pouch, small spleen, small thyroid gland, splayed ribs, thoracoabdominoschisis, ventricular hypoplasia