Abnormal speech pattern, Abnormal sternum morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia of the semicircular canal, Arrhythmia, Atrial septal defect, Brachydactyly, Clinodactyly of the 5th finger, Coarse hair, Cryptorchidism, Curly hair, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Eczematoid dermatitis, Enlarged thorax, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Hepatomegaly, High forehead, High palate, Hyperextensible skin, Hyperkeratosis, Hyperpigmentation of the skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Hypotonia, Intellectual disability, Left ventricular hypertrophy, Low posterior hairline, Low-set ears, Lymphedema, Melanocytic nevus, Micrognathia, Midface retrusion, Muscle weakness, Nystagmus, obsolete Joint hyperflexibility, obsolete Low-set, posteriorly rotated ears, Palmoplantar cutis laxa, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pleural effusion, Polyhydramnios, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radioulnar synostosis, Relative macrocephaly, Scoliosis, Sensorineural hearing impairment, Short neck, Short stature, Strabismus, Thickened helices, Thickened nuchal skin fold, Thick lower lip vermilion, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance

premature death, prenatal lethality, reduced female fertility, round head, thick ventricular wall