Abnormality of the lymphatic system, Abnormality of the spleen, Aplasia of the semicircular canal, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Arthrogryposis multiplex congenita, Brachydactyly, Cardiomyopathy, 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, Leukemia, Low posterior hairline, Low-set, posteriorly rotated ears, Lymphedema, Melanocytic nevus, Micrognathia, Midface retrusion, Mitral stenosis, Muscle weakness, Neurological speech impairment, Nystagmus, Pectus carinatum, Pectus excavatum, Polyhydramnios, Posteriorly rotated ears, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radioulnar synostosis, Scoliosis, Sensorineural hearing impairment, Shield chest, Short neck, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Webbed neck, Wide intermamillary distance, obsolete Joint hyperflexibility, obsolete Sparse and thin eyebrow

increased cell proliferation, increased circulating alkaline phosphatase level, increased red blood cell distribution width, lethality during fetal growth through weaning, premature death, preweaning lethality, complete penetrance, short parietal bone