Agenesis of corpus callosum, Agoraphobia, Arrhythmia, Atrial septal defect, Autism, Avascular necrosis of the capital femoral epiphysis, Bifid uterus, Bimanual synkinesia, Broad finger, Broad hallux, Broad thumb, Cafe-au-lait spot, Capillary hemangioma, Cataract, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Coloboma, Constipation, Convex nasal ridge, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Deviated nasal septum, Dislocated radial head, Downslanted palpebral fissures, Duane anomaly, Duplication of phalanx of hallux, EEG abnormality, Epicanthus, Facial grimacing, Failure to thrive, Feeding difficulties in infancy, Flared iliac wings, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Glaucoma, Growth delay, Hearing impairment, High axial triradius, High palate, Highly arched eyebrow, Hirsutism, Hyperactivity, Hyperreflexia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplastic iliac wing, Hypospadias, Impulsivity, Intellectual disability, Joint hypermobility, Joint laxity, Keloids, Large foramen magnum, Laryngomalacia, Leukemia, Long eyelashes, Low anterior hairline, Low hanging columella, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Muscular hypotonia, Narrow mouth, Narrow palate, Nasolacrimal duct obstruction, Neoplasm, Obstructive sleep apnea, Papillary cystadenoma of the epididymis, Parietal foramina, Patellar dislocation, Patent ductus arteriosus, Pectus excavatum, Pes planus, Phonophobia, Plantar crease between first and second toes, Polydactyly, Polyhydramnios, Poor coordination, Premature thelarche, Prominent fingertip pads, Proptosis, Ptosis, Radial deviation of thumb terminal phalanx, Recurrent upper respiratory tract infections, Respiratory distress, Retrognathia, Scoliosis, Seizure, Self-mutilation, Shawl scrotum, Short attention span, Short stature, Single transverse palmar crease, Spina bifida occulta, Stereotypy, Strabismus, Syndactyly, Talon cusp, Tethered cord, Thick eyebrow, Truncal obesity, Unsteady gait, Vascular ring, Ventricular septal defect, Wide anterior fontanel, Wide nasal bridge

abnormal lung interstitium morphology, abnormal megakaryocyte morphology, abnormal mitral valve morphology, abnormal nest building behavior, abnormal occipital bone morphology, abnormal pancreatic beta cell morphology, abnormal pulmonary alveolus morphology, abnormal social investigation, abnormal spatial learning, abnormal sternum morphology, abnormal tumor necrosis factor level, abnormal vascular development, abnormal vascular endothelial cell development, abnormal vasculogenesis, absent organized vascular network, absent pre-B cells, absent vitelline blood vessels, behavior/neurological phenotype, cardiovascular system phenotype, decreased CD4-positive, alpha beta T cell number, decreased aggression towards males, decreased angiogenesis, decreased anxiety-related response, decreased body size, decreased circulating free fatty acids level, decreased common myeloid progenitor cell number, decreased double-positive T cell number, decreased embryo size, decreased fat cell size, decreased grip strength, decreased hematopoietic stem cell number, decreased percent body fat/body weight, decreased susceptibility to diet-induced obesity, decreased thymocyte number, decreased triglyceride level, decreased vascular endothelial cell number, decreased vertical activity, decreased white adipose tissue amount, delayed bone ossification, embryonic growth arrest, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality, complete penetrance, failure of vascular branching, flattened snout, hypoactivity, impaired hematopoiesis, improved glucose tolerance, incomplete rostral neuropore closure, increased CD8-positive, alpha-beta T cell number, increased T cell derived lymphoma incidence, increased bone marrow cell number, increased cellular sensitivity to gamma-irradiation, increased circulating adiponectin level, increased circulating glucose level, increased double-positive T cell number, increased granulocyte number, increased grooming behavior, increased hemolymphoid system tumor incidence, increased histiocytic sarcoma incidence, increased insulin sensitivity, increased oxygen consumption, increased post-tetanic potentiation, increased thigmotaxis, increased vertical activity, lethality throughout fetal growth and development, incomplete penetrance, muscle phenotype, nervous system phenotype, no abnormal phenotype detected, open neural tube, pale yolk sac, perinatal lethality, incomplete penetrance, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, prenatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, reduced long term potentiation, short maxilla, short premaxilla, small lung, small thymus, thin myocardium compact layer, wide frontal bone, xiphoid process foramen