Abnormality of bone mineral density, Abnormality of immune system physiology, Abnormality of the adrenal glands, Abnormality of the dentition, Abnormality of the inner ear, Abnormality of the metaphysis, Abnormality of the orbital region, Abnormality of the voice, Abnormality of tibia morphology, Abnormality of vision, Absence of pubertal development, Absence of secondary sex characteristics, Absent radius, Anal atresia, Anal stenosis, Anemia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aortic arch aneurysm, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Aqueductal stenosis, Arrhinencephaly, Ataxia, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autoimmunity, Azoospermia, B lymphocytopenia, Bifid femur, Bifid scrotum, Bimanual synkinesia, Brachydactyly, Breast hypoplasia, Camptodactyly, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Coloboma, Color vision defect, Compulsive behaviors, Congenital sensorineural hearing impairment, Cranial nerve paralysis, Cryptorchidism, Cupped ear, Dandy-Walker malformation, Decreased fertility, Decreased response to growth hormone stimulation test, Decreased serum testosterone concentration, Decreased testicular size, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depression, Desquamation of skin soon after birth, Diarrhea, Dimple chin, Double outlet right ventricle, Down-sloping shoulders, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysarthria, Dyspareunia, Dysphagia, Edema, Eosinophilia, Epicanthus, Erectile dysfunction, Erythroderma, Esophageal atresia, Eunuchoid habitus, Eyelid coloboma, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Female hypogonadism, Fever, Gait disturbance, Gastroesophageal reflux, Generalized joint hypermobility, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hand monodactyly, Hand polydactyly, Hearing impairment, Hemivertebrae, Hepatomegaly, Highly arched eyebrow, Holoprosencephaly, Horseshoe kidney, Hydronephrosis, Hypertelorism, Hypocalcemia, Hypogonadotropic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the semicircular canal, Hypoplasia of the thymus, Hypoplasia of the ulna, Hypoplasia of the uterus, Hypoplasia of the zygomatic bone, Hypoplastic male external genitalia, Hypoproteinemia, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Hypotonia, Ichthyosis, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Intrauterine growth retardation, Iris coloboma, Labial hypoplasia, Lacrimation abnormality, Laryngomalacia, Leukocytosis, Lop ear, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphoma, Lymphopenia, Malar flattening, Male hypogonadism, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Microtia, Mixed hearing impairment, Muscle weakness, Narrow face, Narrow mouth, Nephrotic syndrome, Non-obstructive azoospermia, Nystagmus, Obesity, Omphalocele, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Paraplegia, Parathyroid hypoplasia, Patent ductus arteriosus, Pes cavus, Pes planus, Phenotypic abnormality, Pneumonia, Polyhydramnios, Preauricular skin tag, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Recurrent bacterial infections, Recurrent fractures, Recurrent fungal infections, Recurrent viral infections, Reduced bone mineral density, Renal agenesis, Renal hypoplasia, Respiratory insufficiency, Retinal coloboma, Scoliosis, Secondary amenorrhea, Seizure, Sensorineural hearing impairment, Sepsis, Severe B lymphocytopenia, Severe combined immunodeficiency, Short stature, Short thumb, Short toe, Skeletal dysplasia, Sparse body hair, Splenomegaly, Square face, Strabismus, Talipes equinovarus, Tetralogy of Fallot, Thickened skin, Thrombocytopenia, Thyroiditis, Tooth agenesis, Tracheoesophageal fistula, Tremor, Umbilical hernia, Ventricular septal defect, Vesicoureteral reflux, Visual impairment, Webbed neck, Wide intermamillary distance, obsolete External ear malformation, obsolete Hypotrichosis, obsolete Posterior choanal atresia

abnormal ear development, abnormal embryonic neuroepithelium morphology, abnormal epigenetic regulation of gene expression, abnormal external female genitalia morphology, abnormal eye development, abnormal fourth pharyngeal arch artery morphology, abnormal frontal lobe morphology, abnormal glenoid fossa morphology, abnormal hindlimb morphology, abnormal incudomalleolar joint morphology, abnormal incus long process morphology, abnormal incus morphology, abnormal incus short process morphology, abnormal inner ear canal fusion, abnormal internal nares morphology, abnormal lens development, abnormal malleus manubrium morphology, abnormal malleus morphology, abnormal maternal nurturing, abnormal middle ear epithelium morphology, abnormal middle ear ossicle morphology, abnormal motor capabilities/coordination/movement, abnormal nasal pit morphology, abnormal neocortex morphology, abnormal neural crest cell migration, abnormal neuronal precursor cell number, abnormal neuronal precursor proliferation, abnormal optic cup morphology, abnormal optic eminence morphology, abnormal otic vesicle development, abnormal outer ear morphology, abnormal parietal lobe morphology, abnormal pharyngeal arch artery morphology, abnormal placing response, abnormal pulmonary trunk morphology, abnormal round window morphology, abnormal secondary palate development, abnormal sensory neuron innervation pattern, abnormal sixth pharyngeal arch artery morphology, abnormal stapes crus morpholgy, abnormal stapes footplate morphology, abnormal stapes head morphology, abnormal subclavian artery morphology, abnormal suckling behavior, abnormal superior semicircular canal morphology, abnormal telencephalon development, abnormal telencephalon morphology, abnormal trigeminal ganglion morphology, abnormal vagus nerve morphology, abnormal vestibular nerve morphology, abnormal vestibulocochlear ganglion morphology, absent cochlear microphonics, absent hippocampus, absent lateral semicircular canal, absent olfactory bulb, absent optic cup, absent posterior semicircular canal, absent utricle, absent vestibular saccule, aortic arch coarctation, atrioventricular cushion hypoplasia, bidirectional circling, cardiovascular system phenotype, circling, decreased body length, decreased body size, decreased circulating alanine transaminase level, decreased circulating aspartate transaminase level, decreased cochlear nerve compound action potential, decreased embryonic neuroepithelium thickness, decreased fetal cardiomyocyte proliferation, decreased lateral semicircular canal size, decreased lean body mass, decreased lumbar vertebrae number, decreased palatal rugae number, decreased posterior semicircular canal size, decreased startle reflex, decreased superior semicircular canal size, delayed embryo turning, dry eyes, ectopic thymus, embryo phenotype, embryonic growth arrest, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality, complete penetrance, endocrine/exocrine gland phenotype, fusion of glossopharyngeal and vagus nerve, head bobbing, head shaking, head tossing, hearing/vestibular/ear phenotype, impaired righting response, impaired swimming, increased cardiomyocyte apoptosis, increased cochlear inner hair cell number, increased cochlear outer hair cell number, increased cranium height, increased middle ear goblet cell number, increased or absent threshold for auditory brainstem response, increased periosteum thickness, increased susceptibility to otitis media, lethality throughout fetal growth and development, incomplete penetrance, neonatal lethality, complete penetrance, postnatal lethality, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, incomplete penetrance, reduced female fertility, reduced fertility, reduced male fertility, small endolymphatic duct, small hippocampus, small olfactory bulb, small otic vesicle, small stapes obturator foramen, small thymus, thin myocardium