Abnormal skull morphology, Abnormal thorax morphology, Abnormality of metabolism/homeostasis, Abnormality of the dentition, Abnormality of the ear, Abnormality of the hand, Abnormality of the middle ear, Abnormality of the pharynx, Abnormality of the pulmonary artery, Abnormality of the thymus, Abnormality of the tonsils, Abnormality of the uterus, Abnormality of thrombocytes, Accommodative esotropia, Acne, Aganglionic megacolon, Aggressive behavior, Amblyopia, Anal atresia, Anorectal anomaly, Anxiety, Arachnodactyly, Arrhinencephaly, Arthritis, Asthma, Atelectasis, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autoimmunity, Behavioral abnormality, Bifid uvula, Bipolar affective disorder, Blepharophimosis, Bowel incontinence, Brachydactyly, Broad forehead, Broad hallux, Bulbous nose, Carious teeth, Cataract, Choanal atresia, Cholelithiasis, Chronic otitis media, Chronic pulmonary obstruction, Cleft palate, Clinodactyly of the 5th finger, Coarctation of aorta, Complete atrioventricular canal defect, Conductive hearing impairment, Constipation, Corneal neovascularization, Cryptorchidism, Decreased circulating parathyroid hormone level, Delayed speech and language development, Depression, Dolichocephaly, Double aortic arch, Double outlet right ventricle, Downslanted palpebral fissures, Dysphasia, Epicanthus, Esophoria, Esotropia, Exotropia, Failure to thrive, Feeding difficulties in infancy, Femoral hernia, Foot polydactyly, Gastroesophageal reflux, Gastrointestinal hemorrhage, Glaucoma, Global developmental delay, Hand polydactyly, Hearing impairment, High palate, High, narrow palate, Hydrocephalus, Hydronephrosis, Hypertelorism, Hypertensive crisis, Hyperthyroidism, Hypocalcemia, Hypoparathyroidism, Hypopigmented skin patches, Hypoplasia of the thymus, Hypospadias, Hypothyroidism, Hypotonia, Immunodeficiency, Impaired T cell function, Intellectual disability, Intellectual disability, mild, Interrupted aortic arch, Intestinal malrotation, Intrauterine growth retardation, Laryngomalacia, Long face, Long philtrum, Low-set ears, Malar flattening, Meningocele, Microcephaly, Micrognathia, Microphthalmia, Mood swings, Multiple renal cysts, Multiple suture craniosynostosis, Myalgia, Narrow mouth, Narrow palpebral fissure, Nasal speech, Obesity, Occipital myelomeningocele, Open mouth, Optic atrophy, Overfolded helix, Paranoia, Parathyroid agenesis, Parathyroid hypoplasia, Patellar dislocation, Patent ductus arteriosus, Pierre-Robin sequence, Platybasia, Polycystic kidney dysplasia, Polyhydramnios, Postaxial polydactyly, Posterior embryotoxon, Preauricular pit, Prominent nasal bridge, Proptosis, Ptosis, Pulmonary artery atresia, Purpura, Recurrent infections, Renal dysplasia, Renal hypoplasia, Retinal arteriolar tortuosity, Retinal vascular tortuosity, Retrognathia, Right aortic arch with mirror image branching, Schizophrenia, Sclerocornea, Scoliosis, Seborrheic dermatitis, Seizure, Short neck, Short palpebral fissure, Short philtrum, Short stature, Small earlobe, Specific learning disability, Spina bifida, Splenomegaly, Strabismus, Submucous cleft hard palate, Talipes equinovarus, Telecanthus, Tetany, Tetralogy of Fallot, Thin vermilion border, Thrombocytopenia, Transposition of the great arteries, Tricuspid atresia, Truncus arteriosus, Turricephaly, Umbilical hernia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Unilateral primary pulmonary dysgenesis, Unilateral renal agenesis, Upslanted palpebral fissure, Varicose veins, Velopharyngeal insufficiency, Ventricular septal defect, Vesicoureteral reflux, Wide nasal bridge, obsolete Joint hyperflexibility

abnormal cochlea morphology, abnormal cochlear ganglion morphology, abnormal common crus morphology, abnormal conotruncus morphology, abnormal conotruncus septation, abnormal cranial neural crest cell migration, abnormal craniofacial bone morphology, abnormal craniofacial development, abnormal cranium morphology, abnormal dorsal aorta morphology, abnormal ear morphology, abnormal endolymphatic duct morphology, abnormal external auditory canal morphology, abnormal fetal atrioventricular canal morphology, abnormal fourth pharyngeal arch artery morphology, abnormal fourth pharyngeal arch morphology, abnormal fourth pharyngeal pouch morphology, abnormal frontonasal prominence morphology, abnormal geniculate ganglion morphology, abnormal glossopharyngeal ganglion morphology, abnormal heart development, abnormal hypoglossal cord morphology, abnormal incus morphology, abnormal laryngeal muscle morphology, abnormal lymphangiogenesis, abnormal malleus morphology, abnormal mandibular nerve branching, abnormal mesenchyme morphology, abnormal middle ear ossicle morphology, abnormal motor capabilities/coordination/movement, abnormal myogenesis, abnormal nasal placode morphology, abnormal neural crest cell migration, abnormal neuron differentiation, abnormal optic vesicle formation, abnormal organ of Corti supporting cell differentiation, abnormal organ of Corti supporting cell morphology, abnormal otic capsule morphology, abnormal outer ear morphology, abnormal palatal shelf fusion at midline, abnormal palate morphology, abnormal pharyngeal arch artery morphology, abnormal pharyngeal muscle morphology, abnormal pharyngeal pouch morphology, abnormal response to novel object, abnormal semicircular canal ampulla morphology, abnormal semilunar valve morphology, abnormal sixth pharyngeal arch morphology, abnormal spatial working memory, abnormal stria vascularis morphology, abnormal strial marginal cell morphology, abnormal temporal bone morphology, abnormal third pharyngeal arch morphology, abnormal thymus development, abnormal thyroid cartilage morphology, abnormal trigeminal ganglion morphology, abnormal truncus arteriosus septation, abnormal tympanic ring morphology, abnormal upper incisor morphology, abnormal vagus ganglion morphology, abnormal vagus nerve morphology, abnormal vascular smooth muscle physiology, abnormal vertebral arch morphology, abnormal vestibulocochlear ganglion morphology, abnormal zygomatic arch morphology, absent arcus anterior, absent facial muscle, absent fourth pharyngeal arch, absent fourth pharyngeal arch artery, absent lateral semicircular canal, absent mandibular coronoid process, absent masseter muscle, absent parathyroid glands, absent pharyngeal arch arteries, absent pharyngeal arches, absent pterygoid muscle, absent second pharyngeal arch, absent sixth pharyngeal arch, absent sixth pharyngeal arch artery, absent strial marginal cells, absent third pharyngeal arch, absent third pharyngeal arch artery, absent tubotympanic recess, absent tympanic ring, absent ultimobranchial body, absent upper incisors, absent utricle, absent vertebral body, absent vestibular saccule, absent zygomatic arch, bidirectional circling, cardiovascular system phenotype, circling, cochlear ganglion degeneration, collapsed Reissner membrane, craniofacial phenotype, curly tail, deafness, decreased embryo size, decreased mitotic index, decreased prepulse inhibition, decreased tympanic ring size, decreased vocalization, dilated endolymphatic duct, embryo phenotype, fourth pharyngeal arch artery hypoplasia, fourth pharyngeal arch hypoplasia, fusion of basioccipital and basisphenoid bone, fusion of glossopharyngeal and vagus nerve, fusion of vertebral bodies, glossopharyngeal nerve hypoplasia, head bobbing, head tilt, hearing/vestibular/ear phenotype, hyoid bone hypoplasia, increased apoptosis, increased or absent threshold for auditory brainstem response, increased susceptibility to otitis media, increased thigmotaxis, inner ear hypoplasia, kinked tail, malleus hypoplasia, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, organ of Corti degeneration, otic capsule hypoplasia, otic vesicle hypoplasia, palatal shelves fail to meet at midline, perinatal lethality, complete penetrance, pharynx stenosis, postnatal lethality, postnatal lethality, complete penetrance, retroesophageal right subclavian artery, second pharyngeal arch hypoplasia, sensorineural hearing loss, short mandible, skin edema, small cricoid cartilage, small otic vesicle, small pharyngeal arch, small scala media, small second pharyngeal arch, small thymus, small thyroid cartilage, small thyroid gland, temporal bone hypoplasia, thin malleus neck, vascular smooth muscle hypoplasia, vestibular ganglion degeneration