Abnormal sternum morphology, Abnormality of coagulation, Abnormality of neutrophils, Abnormality of the face, Abnormality of the genital system, Abnormality of the lymphatic system, Abnormality of the pulmonary artery, Abnormality of the spleen, Abnormality of the voice, Aplasia of the semicircular canal, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Atrioventricular canal defect, Brachycephaly, Brachydactyly, Bundle branch block, Cafe-au-lait spot, Clinodactyly of the 5th finger, Coarse hair, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Decreased fertility, Delayed skeletal maturation, Depressed nasal bridge, Dilated cardiomyopathy, Dolichocephaly, Downslanted palpebral fissures, Dry skin, Dysarthria, EMG abnormality, Elevated circulating creatine kinase concentration, Enlarged thorax, Epicanthus, Excessive wrinkled skin, Feeding difficulties in infancy, Freckling, Global developmental delay, Growth delay, Hepatomegaly, High forehead, High palate, Hyperextensible skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Hypospadias, Hypotonia, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Lipoatrophy, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Macrocephaly, Mandibular prognathia, Melanocytic nevus, Melanoma, Micrognathia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Multiple lentigines, Muscle weakness, Myelodysplasia, Myocardial infarction, Myopathy, Neuroblastoma, Neurological speech impairment, Nevus, Nystagmus, Palmoplantar keratoderma, Pectus carinatum, Pectus excavatum, Polyhydramnios, Prominent forehead, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radioulnar synostosis, Scapular winging, Scoliosis, Sensorineural hearing impairment, Severe sensorineural hearing impairment, Short neck, Short stature, Spina bifida occulta, Sprengel anomaly, Strabismus, Subcutaneous nodule, Thick lower lip vermilion, Thick vermilion border, Thickened helices, Thickened nuchal skin fold, Triangular face, Vascular dilatation, Ventricular arrhythmia, Webbed neck, Wide intermamillary distance, Wide mouth, Wide nasal bridge, obsolete Joint hyperflexibility

abnormal placental labyrinth vasculature morphology, abnormal pulmonary alveolus morphology, abnormal somite development, abnormal spongiotrophoblast layer morphology, abnormal vasculogenesis, absent vitelline blood vessels, cardiac fibrosis, cardiac hypertrophy, cardiac interstitial fibrosis, cardiovascular system phenotype, decreased body length, decreased body size, decreased cardiac muscle contractility, decreased cell proliferation, decreased cranium height, decreased embryo size, decreased embryo weight, decreased fetal weight, decreased fibroblast proliferation, decreased placenta weight, decreased sensitivity to induced cell death, decreased spongiotrophoblast size, decreased ventricle muscle contractility, dilated heart left ventricle, distended pericardium, embryonic growth arrest, embryonic growth retardation, embryonic lethality during organogenesis, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, enlarged myocardial fiber, eyelids open at birth, flattened snout, hematopoietic system phenotype, hunched posture, increased apoptosis, increased cardiac muscle contractility, increased cardiac output, increased cardiac stroke volume, increased cardiomyocyte apoptosis, increased embryonic tissue cell apoptosis, increased fibroblast apoptosis, increased heart left ventricle size, increased heart ventricle size, increased heart weight, increased hepatoblast apoptosis, increased left ventricle systolic pressure, increased neutrophil cell number, increased response of heart to induced stress, increased sensitivity to induced cell death, increased sensitivity to induced morbidity/mortality, lethality throughout fetal growth and development, complete penetrance, liver hypoplasia, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, pale liver, premature death, prenatal lethality, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, ruffled hair, small hair follicles, small liver, small lung, thick interventricular septum, thick ventricular wall, thin dermal layer, thin epidermis, thin myocardium, underdeveloped hair follicles