Abnormal pulmonary valve morphology, Abnormal speech pattern, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia of the semicircular canal, 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, Lymphedema, Melanocytic nevus, Micrognathia, Midface retrusion, Muscle weakness, Nystagmus, obsolete Hyperkeratosis pilaris, obsolete Joint hyperflexibility, obsolete Low-set, posteriorly rotated ears, obsolete Sparse and thin eyebrow, Pectus carinatum, Pectus excavatum, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radioulnar synostosis, Scoliosis, Sensorineural hearing impairment, Short neck, Short stature, Strabismus, Thickened helices, Thickened nuchal skin fold, Thick lower lip vermilion, Triangular face, Webbed neck, Wide intermamillary distance