Anteriorly placed anus, Arteriovenous malformation, Ascites, Ataxia, Atresia of the external auditory canal, Benign neoplasm of the central nervous system, Bifid scrotum, Bilateral choanal atresia/stenosis, Blepharophimosis, Broad forehead, Camptodactyly, Camptodactyly of finger, Caudal appendage, Cerebellar vermis hypoplasia, Chylothorax, Clinodactyly, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Cutaneous finger syndactyly, Decreased circulating antibody level, Delayed eruption of teeth, Dental malocclusion, Depressed nasal bridge, Downturned corners of mouth, Dysplastic corpus callosum, Ectopic kidney, Epicanthus, Erysipelas, Feeding difficulties, Feeding difficulties in infancy, Finger syndactyly, Flat face, Gastrostomy tube feeding in infancy, Generalized hypotonia, Gingival overgrowth, Glaucoma, Global developmental delay, Gray matter heterotopia, Growth delay, Hearing impairment, High palate, Horseshoe kidney, Hydrops fetalis, Hypertelorism, Hypocalcemia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Hypotonia, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Intestinal lymphangiectasia, Irregular dentition, Large fontanelles, Low-set ears, Lymphadenopathy, Lymphangioma, Lymphedema, Lymphopenia, Malabsorption, Malar flattening, Microcephaly, Micrognathia, Micropenis, Microtia, Midface retrusion, Mild postnatal growth retardation, Narrow chest, Narrow forehead, Narrow mouth, Osteopenia, Osteoporosis, Pachygyria, Pericardial effusion, Pericardial lymphangiectasia, Periventricular nodular heterotopia, Ptosis, Pulmonary lymphangiectasia, Pulmonic stenosis, Pyloric stenosis, Recurrent respiratory infections, Renal hypoplasia, Respiratory insufficiency, Retrognathia, Sacral dimple, Scoliosis, Seizure, Self-injurious behavior, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Short philtrum, Short stature, Skeletal dysplasia, Sparse axillary hair, Splenomegaly, Subcortical band heterotopia, Supernumerary tooth, Syndactyly, Talipes equinovarus, Tented upper lip vermilion, Tooth agenesis, Tracheomalacia, Ventriculomegaly, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge, obsolete External ear malformation, obsolete Joint laxity

abnormal vertebrae development, curly tail, decreased birth body size, decreased kidney cell proliferation, impaired branching involved in ureteric bud morphogenesis, increased kidney apoptosis, neonatal lethality, complete penetrance, small kidney, small lung, wide sternum