Abnormality of the middle ear, Abnormality of the vertebral column, Absent eyelashes, Atresia of the external auditory canal, Bilateral microphthalmos, Blepharospasm, Brachycephaly, Branchial fistula, Cataract, Choanal atresia, Cleft palate, Cleft soft palate, Cleft upper lip, Conductive hearing impairment, Cryptorchidism, Downslanted palpebral fissures, Dysphasia, Encephalocele, Eyelid coloboma, Failure to thrive, Frontal bossing, Global developmental delay, Glossoptosis, High palate, Hypertelorism, Hypoplasia of penis, Hypoplasia of the maxilla, Hypoplasia of the pharynx, Hypoplasia of the thymus, Hypoplasia of the zygomatic bone, Intellectual disability, Iris coloboma, Lacrimal duct stenosis, Low anterior hairline, Lower eyelid coloboma, Malar flattening, Micrognathia, Microphthalmia, Microtia, Midface retrusion, Multiple enchondromatosis, Narrow internal auditory canal, Narrow mouth, Open bite, Patent ductus arteriosus, Preauricular skin tag, Ptosis, Rectovaginal fistula, Respiratory insufficiency, Retrognathia, Short face, Skeletal dysplasia, Small scrotum, Sparse lower eyelashes, Strabismus, Tessier cleft, Thyroid hypoplasia, Tooth agenesis, Tracheoesophageal fistula, Upper eyelid coloboma, Visual impairment, Visual loss, Wide mouth, Wide nasal bridge

abnormal lateral nasal prominence morphology, abnormal maxilla morphology, abnormal maxillary prominence morphology, abnormal medial nasal prominence morphology, abnormal midbrain development, abnormal middle ear ossicle morphology, abnormal nasal bone morphology, abnormal nasal capsule morphology, abnormal nasal cavity morphology, abnormal nasal septum morphology, abnormal neural crest cell migration, abnormal neural fold formation, abnormal neural plate morphology, abnormal neurocranium morphology, abnormal outer ear morphology, abnormal palatal shelf fusion at midline, abnormal palatine bone morphology, abnormal temporal bone morphology, abnormal tympanic ring morphology, abnormal upper lip morphology, abnormal viscerocranium morphology, abnormal zygomatic arch morphology, absent frontal bone, absent glossopharyngeal nerve, absent interparietal bone, absent nasal pit, absent optic vesicle, absent parietal bone, absent turbinates, behavior/neurological phenotype, craniofacial phenotype, decreased cranial neural crest cell proliferation, decreased embryonic neuroepithelial cell proliferation, decreased neural crest cell number, delayed embryo turning, delayed endochondral bone ossification, delayed neural tube closure, disorganized dorsal root ganglion, domed cranium, embryo phenotype, embryonic growth retardation, facial bone hypoplasia, failure of palatal shelf elevation, first pharyngeal arch hypoplasia, frontonasal prominence hypoplasia, growth/size/body region phenotype, increased embryonic neuroepithelium apoptosis, increased neural tube apoptosis, limbs/digits/tail phenotype, mandible hypoplasia, middle ear ossicle hypoplasia, neonatal lethality, complete penetrance, nervous system phenotype, open neural tube, palatine bone hypoplasia, reproductive system phenotype, short mandible, short maxilla, short premaxilla, skeleton phenotype, small mandible, small orbits, small otic vesicle, small trigeminal ganglion, temporal bone hypoplasia, tympanic ring hypoplasia, vision/eye phenotype