Ankyloblepharon, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the eyebrow, Arrhythmia, Atrial septal defect, Atypical behavior, Autistic behavior, Broad hallux, Camptodactyly of finger, Capillary malformation, Cardiogenic shock, Cataract, Cerebral atrophy, Chorioretinal coloboma, Clinodactyly of the 5th finger, Coarse facial features, Complete duplication of thumb phalanx, Cryptorchidism, Cutis laxa, Deep philtrum, Delayed cranial suture closure, Delayed eruption of teeth, Delayed gross motor development, Depressed nasal bridge, Downslanted palpebral fissures, Enlarged naris, Epicanthus, Everted upper lip vermilion, Excessive daytime somnolence, Facial wrinkling, Failure to thrive, Fine hair, Finger syndactyly, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, High, narrow palate, High palate, Hydronephrosis, Hydroureter, Hyperlordosis, Hypospadias, Intellectual disability, Iris coloboma, Kyphosis, Lethargy, Long eyelashes, Long thorax, Low-set ears, Macrotia, Microcephaly, Microcornea, Microphthalmia, Microretrognathia, Minimal subcutaneous fat, Motor stereotypy, Narrow forehead, Nystagmus, obsolete External ear malformation, obsolete Low-set, posteriorly rotated ears, obsolete Sparse and thin eyebrow, Optic disc coloboma, Orofacial cleft, Palpebral thickening, Preauricular skin tag, Premature ventricular contraction, Prominent forehead, Proptosis, Pulmonary artery stenosis, Recurrent infections, Redundant skin, Renal hypoplasia/aplasia, Scoliosis, Seizure, Self-injurious behavior, Short columella, Short stature, Shuffling gait, Spasticity, Supraventricular tachycardia, Thick upper lip vermilion, Thin upper lip vermilion, Torsade de pointes, Torticollis, Underdeveloped nasal alae, Ventricular septal defect, Ventricular tachycardia, Ventriculomegaly, Visual impairment, Webbed neck, Wide nasal bridge

increased lean body mass, small seminal vesicle, small spleen