Abnormality of the spleen, Aplasia of the semicircular canal, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Brachydactyly, Clinodactyly of the 5th finger, Coarctation of aorta, Coarse hair, Cryptorchidism, Curly hair, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Feeding difficulties in infancy, Global developmental delay, Hepatomegaly, High forehead, High palate, Hypertelorism, Hypogonadotropic hypogonadism, Hypotonia, Low posterior hairline, Low-set, posteriorly rotated ears, Lymphedema, Melanocytic nevus, Micrognathia, Midface retrusion, Muscle weakness, Neurological speech impairment, Nystagmus, Pectus carinatum, Pectus excavatum, 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, Webbed neck, Wide intermamillary distance, obsolete Hyperkeratosis pilaris, obsolete Joint hyperflexibility, obsolete Sparse and thin eyebrow