Abnormality of the elbow, Abnormality of the genital system, Abnormality of the lymphatic system, Abnormality of the spleen, Anteverted nares, Aplasia of the semicircular canal, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the eyebrow, Arrhythmia, Atrial septal defect, Brachydactyly, Carious teeth, Clinodactyly of the 5th finger, Coarse hair, Cryptorchidism, Cystic hygroma, Deep palmar crease, Deep philtrum, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Eczematoid dermatitis, Enlarged thorax, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Hearing impairment, Hepatomegaly, High forehead, High palate, Hydrocephalus, Hyperactivity, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Hypoplasia of the corpus callosum, Hypoplastic toenails, Hypotonia, Ichthyosis, Intellectual disability, Keratosis pilaris, Long eyelashes, Loose anagen hair, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Macrocephaly, Macrotia, Melanocytic nevus, Micrognathia, Midface retrusion, Muscle weakness, Nasal speech, Neurological speech impairment, Nystagmus, Pectus carinatum, Pectus excavatum, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radioulnar synostosis, Scoliosis, Sensorineural hearing impairment, Short neck, Short nose, Short stature, Sparse scalp hair, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Thin vermilion border, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance, obsolete Joint hyperflexibility, obsolete Joint laxity

lethality throughout fetal growth and development, complete penetrance, no abnormal phenotype detected, pulmonary vascular congestion, skin edema