Aplasia of the semicircular canal, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Blue irides, Brachydactyly, Clinodactyly of the 5th finger, Coarse hair, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Delayed skeletal maturation, Dental malocclusion, Depressed nasal bridge, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Feeding difficulties in infancy, Gingival fibromatosis, Gingival overgrowth, Hepatomegaly, High anterior hairline, High forehead, High palate, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Hypotonia, Keratosis pilaris, Low posterior hairline, Low-set, posteriorly rotated ears, Lymphedema, Macrocephaly, Melanocytic nevus, Micrognathia, Midface retrusion, Muscle weakness, Neurological speech impairment, Nystagmus, Pectus carinatum, Pectus excavatum, Pectus excavatum of inferior sternum, Prolonged bleeding time, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radioulnar synostosis, Scoliosis, Sensorineural hearing impairment, Short neck, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance, obsolete Joint hyperflexibility, obsolete Sparse and thin eyebrow

cardiac interstitial fibrosis, cardiovascular system phenotype, decreased CD4-positive, alpha beta T cell number, decreased DN4 thymocyte number, decreased T cell proliferation, decreased body length, decreased body size, decreased cranium height, decreased double-negative T cell number, decreased double-positive T cell number, decreased embryo size, decreased gamma-delta T cell number, decreased thymocyte number, distended pericardium, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, enlarged myocardial fiber, enlarged pericardium, increased cardiomyocyte apoptosis, increased neutrophil cell number, increased spleen red pulp amount, lethality throughout fetal growth and development, incomplete penetrance, myocardial fiber degeneration, pale yolk sac, premature death, prenatal lethality, complete penetrance, skin edema, thick aortic valve cusps, thick interventricular septum