Abnormality of the spleen, Aplasia of the semicircular canal, Aplasia/Hypoplasia of the abdominal wall musculature, 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, Low-set, posteriorly rotated ears, Lymphedema, Melanocytic nevus, Micrognathia, Midface retrusion, Muscle weakness, Neurological speech impairment, Nystagmus, 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, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance, obsolete Joint hyperflexibility

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