Arachnodactyly, Atrioventricular canal defect, Bicuspid aortic valve, Bifid uvula, Blue sclerae, Bowing of the long bones, Brachydactyly, Broad nasal tip, Camptodactyly, Camptodactyly of finger, Carpal synostosis, Cleft palate, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital sensorineural hearing impairment, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Decreased muscle mass, Decreased testicular size, Deep philtrum, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Dislocated radial head, Downslanted palpebral fissures, Elbow dislocation, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Finger clinodactyly, Freckling, Full cheeks, Fused cervical vertebrae, Gastroesophageal reflux, High palate, High, narrow palate, Hip contracture, Hirsutism, Horseshoe kidney, Hydronephrosis, Hypertelorism, Hypoplasia of the musculature, Intellectual disability, mild, Irregular metacarpals, Joint stiffness, Long metacarpals, Long philtrum, Low anterior hairline, Low-set ears, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Neurogenic bladder, Patent ductus arteriosus, Patent foramen ovale, Pectus excavatum, Pierre-Robin sequence, Pointed chin, Posterior vertebral hypoplasia, Posteriorly rotated ears, Prominent supraorbital ridges, Pseudoepiphyses, Pulmonic stenosis, Pyloric stenosis, Recurrent otitis media, Rib fusion, Scoliosis, Sensorineural hearing impairment, Severe short stature, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short foot, Short metacarpal, Short metatarsal, Short palm, Short philtrum, Short stature, Strabismus, Stridor, Subglottic stenosis, Synostosis of carpal bones, Synostosis of carpals/tarsals, Talipes equinovarus, Tarsal synostosis, Telecanthus, Thick eyebrow, Tooth agenesis, Tooth malposition, Tracheal stenosis, Ulcerative colitis, Ulnar deviation of finger, Ulnar deviation of the hand, Upslanted palpebral fissure, Ureteral stenosis, Urethral stenosis, Vesicoureteral reflux, Webbed neck, Wide nasal bridge, obsolete Joint laxity

abnormal pharyngeal arch artery morphology, abnormal secondary palate development, abnormal vascular development, abnormal vascular regression, abnormal vascular smooth muscle morphology, abnormal ventricle papillary muscle morphology, abnormal vitelline vascular remodeling, abnormal vitelline vasculature morphology, absent fibroblast proliferation, absent regulatory T cells, behavior/neurological phenotype, cardiac hypertrophy, cardiovascular system phenotype, decreased B cell proliferation, decreased B-1 B cell number, decreased CD4-positive, alpha beta T cell number, decreased IgG1 level, decreased IgG3 level, decreased T cell proliferation, decreased angiogenesis, decreased circulating interleukin-10 level, decreased cranium height, decreased embryo size, decreased interleukin-10 secretion, decreased locomotor activity, decreased single-positive T cell number, dilated heart ventricle, embryo tissue necrosis, embryonic lethality during organogenesis, complete penetrance, embryonic lethality prior to tooth bud stage, enlarged lymph nodes, failure of palatal shelf elevation, focal hepatic necrosis, growth/size/body region phenotype, homeostasis/metabolism phenotype, impaired febrile response, increased apoptosis, increased cardiac muscle glycogen level, increased circulating alanine transaminase level, increased circulating alkaline phosphatase level, increased circulating aspartate transaminase level, increased circulating glutamate dehydrogenase level, increased circulating interleukin-1 beta level, increased circulating tumor necrosis factor level, increased hepatocellular carcinoma incidence, increased hepatocyte apoptosis, increased hepatocyte proliferation, increased interleukin-1 beta secretion, increased interleukin-10 secretion, increased interleukin-6 secretion, increased memory T cell number, increased sensitivity to induced morbidity/mortality, increased susceptibility to endotoxin shock, increased thymocyte apoptosis, increased tumor necrosis factor secretion, intestinal ulcer, neonatal lethality, complete penetrance, open neural tube, palatal shelf hypoplasia, pericardial edema, postnatal lethality, complete penetrance, premature death, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, prolonged QRS complex duration, short mandible, short maxilla, short tail, small heart, spleen hyperplasia, thin myocardium compact layer, thin ventricular wall, wavy neural tube