Abnormality of the vertebral column, Absent eyelashes, Ataxia, Blepharospasm, Brachycephaly, Branchial fistula, CNS hypomyelination, Cataract, Cerebellar atrophy, Choanal atresia, Cleft palate, Cleft upper lip, Coloboma, Conductive hearing impairment, Cryptorchidism, Downslanted palpebral fissures, Dysphasia, Encephalocele, Eyelid coloboma, Failure to thrive, Frontal bossing, Global developmental delay, Glossoptosis, High palate, Hypergonadotropic hypogonadism, Hypertelorism, Hypodontia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplasia of the thymus, Hypoplasia of the zygomatic bone, Intellectual disability, Iris coloboma, Leukodystrophy, Low anterior hairline, Lower eyelid coloboma, Malar flattening, Mandibulofacial dysostosis, Micrognathia, Microphthalmia, Microtia, Midface retrusion, Multiple enchondromatosis, Myopia, Narrow internal auditory canal, Narrow mouth, Open bite, Patent ductus arteriosus, Preauricular skin tag, Rectovaginal fistula, Respiratory insufficiency, Retrognathia, Short face, Skeletal dysplasia, Small scrotum, Spasticity, Strabismus, Tessier cleft, Thyroid hypoplasia, Tooth agenesis, Tracheoesophageal fistula, Tremor, Visual impairment, Wide mouth, Wide nasal bridge