Bilateral lung agenesis, Bilateral microphthalmos, Blepharophimosis, Broad nasal tip, Coarctation of aorta, Congenital diaphragmatic hernia, Cryptorchidism, Diaphragmatic eventration, Duodenal stenosis, Failure to thrive, Generalized hypotonia, Horseshoe kidney, Hydronephrosis, Hypoplasia of the uterus, Hypoplastic left atrium, Hypoplastic spleen, Hypotonia, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Low-set ears, Micrognathia, Microphthalmia, Multilobulated spleen, Patent ductus arteriosus, Pelvic kidney, Pulmonary artery atresia, Pulmonary hypoplasia, Pulmonic stenosis, Renal hypoplasia, Renal malrotation, Respiratory insufficiency, Retrognathia, Right aortic arch with mirror image branching, Short stature, Single ventricle, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Vesicoureteral reflux, Wide nasal bridge

absent metoptic pillar, cervical vertebral transformation, decreased pulmonary endothelial cell surface, fusion of atlas and occipital bones, fusion of atlas and odontoid process, fusion of vertebral arches, impaired lung alveolus development, limbs/digits/tail phenotype, nervous system phenotype, no abnormal phenotype detected, persistence of hyaloid vascular system, reduced long term potentiation, split cervical atlas, split cervical axis, vertebral transformation, vitreous body deposition