Chylothorax, Conductive hearing impairment, Craniosynostosis, Decreased circulating antibody level, Delayed eruption of teeth, Depressed nasal bridge, Ectopic kidney, Edema, Epicanthus, Erysipelas, Facial edema, Finger syndactyly, Flat face, Gingival overgrowth, Glaucoma, Horseshoe kidney, Hydrocele testis, Hydrops fetalis, Hypertelorism, Hypocalcemia, Intellectual disability, Low-set ears, Lymphadenopathy, Lymphangioma, Lymphedema, Lymphopenia, Malabsorption, Mild postnatal growth retardation, Narrow chest, Narrow mouth, Pachygyria, Pericardial effusion, Polyhydramnios, Protein-losing enteropathy, Pulmonary lymphangiectasia, Pyloric stenosis, Recurrent respiratory infections, Respiratory insufficiency, Retrognathia, Seizure, Short philtrum, Sparse axillary hair, Splenomegaly, Supernumerary tooth, Tooth agenesis, Upslanted palpebral fissure, Wide nasal bridge, obsolete External ear malformation

abnormal lymphangiogenesis, abnormal optic chiasm morphology, abnormal placenta fetal blood space morphology, abnormal placenta labyrinth morphology, abnormal third ventricle morphology, abnormal vitelline vein connection, abnormal vitelline vein topology, absent ductus venosus valve, absent segment of anterior cerebral artery, absent stapedial artery, basisphenoid bone foramen, dilated ureter, dual inferior vena cava, embryo cyst, fusion of vertebral arches, heterochrony, increased hepatocyte apoptosis, increased trigeminal neuroma incidence, lethality throughout fetal growth and development, complete penetrance, multiple persisting craniopharyngeal ducts, persistent dorsal ophthalmic artery, persistent trigeminal artery, preweaning lethality, complete penetrance, retropleural edema, skeleton phenotype, skin edema, small liver, subcutaneous edema, thoracoschisis