Arrhythmia, Atrial septal defect, Birth length greater than 97th percentile, Broad foot, Broad palm, Broad secondary alveolar ridge, Broad thumb, Broad toe, Bundle branch block, Camptodactyly of finger, Cardiomyopathy, Cerebellar vermis hypoplasia, Cervical ribs, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Congenital hip dislocation, Cryptorchidism, Dandy-Walker malformation, Dental malocclusion, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Duplication of renal pelvis, Embryonal neoplasm, Enlarged kidney, Epicanthus, Finger syndactyly, Flared iliac wing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatoblastoma, Hepatomegaly, High, narrow palate, Hoarse voice, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoglycemia, Hypoplasia of penis, Hypospadias, Hypotonia, Increased circulating IgE level, Intellectual disability, Intestinal malrotation, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Mandibular prognathia, Meckel diverticulum, Multicystic kidney dysplasia, Nail dysplasia, Neoplasm, Nephroblastoma, Neuroblastoma, Neurological speech impairment, Omphalocele, Pancreatic islet-cell hyperplasia, Patent ductus arteriosus, Pectus excavatum, Polyhydramnios, Polysplenia, Postaxial hand polydactyly, Postaxial polydactyly, Posterior helix pit, Preauricular pit, Preauricular skin tag, Prolonged QT interval, Pulmonic stenosis, Renal cyst, Scoliosis, Seizure, Short 2nd finger, Short distal phalanx of finger, Short foot, Short greater sciatic notch, Short neck, Short nose, Short palm, Short toe, Six lumbar vertebrae, Small nail, Splenomegaly, Submucous cleft lip, Supernumerary nipple, Talipes equinovarus, Tall stature, Toe syndactyly, Transposition of the great arteries, Two carpal ossification centers present at birth, Umbilical hernia, Ureteral duplication, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Wide mouth, Wide nasal bridge

abnormal perineum morphology, abnormal spleen B cell follicle morphology, abnormal ureteric bud morphology, abnormal ventral body wall morphology, absent mandible, asymmetric sternocostal joints, belly spot, common atrioventricular valve, decreased hematopoietic stem cell number, decreased spleen weight, dilated renal tubules, dilated uterus, homeostasis/metabolism phenotype, impaired branching involved in ureteric bud morphogenesis, increased body size, increased embryo size, increased lung weight, increased placenta weight, increased placental labyrinth size, kidney medulla cyst, mandible hypoplasia, neonatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, respiratory system phenotype, small spleen, white spotting