Abnormal morphology of female internal genitalia, Abnormal nasolacrimal system morphology, Abnormal nasopharynx morphology, Abnormal palate morphology, Abnormal skull morphology, Abnormality of body height, Abnormality of dental morphology, Abnormality of fibula morphology, Abnormality of the dentition, Abnormality of the face, Abnormality of the hypothalamus-pituitary axis, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aortic valve stenosis, Aphasia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnoid cyst, Ataxia, Atrial septal defect, Autism, Azoospermia, Behavioral abnormality, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Camptodactyly, Capillary hemangioma, Cerebellar hypoplasia, Cerebral atrophy, Cerebral calcification, Cerebral cortical atrophy, Chiari malformation, Choanal atresia, Choanal stenosis, Chordee, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Cloverleaf skull, Coarctation of aorta, Color vision defect, Congenital sensorineural hearing impairment, Constipation, Convex nasal ridge, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased response to growth hormone stimulation test, Decreased serum testosterone concentration, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depression, Diabetes insipidus, Disproportionate short-limb short stature, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysostosis multiplex, Dyspareunia, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epicanthus, Erectile dysfunction, Eruption failure, Esophageal atresia, Eunuchoid habitus, Eyelid coloboma, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Fatigue, Female hypogonadism, Finger syndactyly, Flat face, Frontal bossing, Gait disturbance, Generalized joint hypermobility, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hearing impairment, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, High forehead, High palate, Hip dysplasia, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperlordosis, Hypernatremia, Hypertelorism, Hypogonadotropic hypogonadism, Hypohidrosis, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplasia of the zygomatic bone, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Hypotonia, Ichthyosis, Impotence, Increased female libido, Increased susceptibility to fractures, Intellectual disability, Interrupted aortic arch, Intrauterine growth retardation, Iris coloboma, Limbal dermoid, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Maternal diabetes, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple central nervous system lipomas, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Muscle weakness, Mutism, Nasal congestion, Neonatal hypotonia, Neoplasm of the skeletal system, Neurodevelopmental abnormality, Neurological speech impairment, Nevus flammeus, Non-midline cleft of the upper lip, Non-obstructive azoospermia, Nystagmus, Obesity, Oligodontia, Omphalocele, Open mouth, Optic disc hypoplasia, Optic nerve hypoplasia, Osteochondrosis, Osteolysis, Osteopenia, Osteoporosis, Paralysis, Paraplegia, Pelvic kidney, Peripheral pulmonary artery stenosis, Pes cavus, Pes planus, Phenotypic abnormality, Platyspondyly, Polydactyly, Polydipsia, Porencephalic cyst, Posteriorly rotated ears, Preauricular skin tag, Preaxial foot polydactyly, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Psychomotor retardation, Ptosis, Pulmonary arterial hypertension, Recurrent fractures, Reduced bone mineral density, Renal agenesis, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Scoliosis, Secondary amenorrhea, Seizure, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short finger, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short philtrum, Short stature, Shortening of all middle phalanges of the fingers, Skeletal dysplasia, Sleep disturbance, Sparse body hair, Spasticity, Split foot, Split hand, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Symphalangism affecting the phalanges of the hand, Syndactyly, Synophrys, Synostosis of carpal bones, Telecanthus, Tetraplegia, Toe syndactyly, Tooth agenesis, Tracheal cartilaginous sleeve, Tracheoesophageal fistula, Tremor, Tricuspid valve prolapse, Trigonocephaly, Turricephaly, Underdeveloped supraorbital ridges, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis, obsolete Hypotrichosis

abnormal cerebellum vermis morphology, abnormal cervical axis morphology, abnormal chorion morphology, abnormal cochlea morphology, abnormal cochlear hair cell development, abnormal cochlear hair cell morphology, abnormal cochlear nerve compound action potential, abnormal craniofacial bone morphology, abnormal craniofacial morphology, abnormal developmental patterning, abnormal dorsal telencephalic commissure morphology, abnormal ear position, abnormal egg cylinder morphology, abnormal embryo development, abnormal embryo size, abnormal embryonic autopod plate morphology, abnormal embryonic epiblast morphology, abnormal embryonic growth/weight/body size, abnormal embryonic tissue morphology, abnormal embryonic-extraembryonic boundary morphology, abnormal extraembryonic tissue morphology, abnormal fetal cardiomyocyte proliferation, abnormal forelimb bud morphology, abnormal forelimb morphology, abnormal forelimb stylopod morphology, abnormal forelimb zeugopod morphology, abnormal frontal lobe morphology, abnormal gastrulation, abnormal gastrulation movements, abnormal head fold morphology, abnormal head mesenchyme morphology, abnormal heart development, abnormal heart tube morphology, abnormal hindlimb morphology, abnormal hippocampal commissure morphology, abnormal hyoid bone lesser horn morphology, abnormal hypothalamus secretion, abnormal incudostapedial joint morphology, abnormal incus body morphology, abnormal incus long process morphology, abnormal incus morphology, abnormal incus short process morphology, abnormal lateral plate mesoderm morphology, abnormal limb morphology, abnormal locus ceruleus morphology, abnormal malleus morphology, abnormal maxillary-premaxillary suture morphology, abnormal mesoderm development, abnormal middle ear ossicle morphology, abnormal myocardial fiber morphology, abnormal neural crest cell migration, abnormal neural crest cell morphology, abnormal neural fold formation, abnormal neural fold morphology, abnormal neural plate morphology, abnormal notochordal process morphology, abnormal organ of Corti morphology, abnormal orientation of inner hair cell stereociliary bundles, abnormal outer ear morphology, abnormal palatine bone morphology, abnormal phalanx morphology, abnormal pinna reflex, abnormal posterior primitive streak morphology, abnormal primitive endoderm morphology, abnormal primitive streak morphology, abnormal pterygoid bone morphology, abnormal respiratory quotient, abnormal retrotympanic process morphology, abnormal rostral-caudal axis patterning, abnormal rostral-caudal body axis extension, abnormal second pharyngeal arch morphology, abnormal secondary palate development, abnormal snout morphology, abnormal somite development, abnormal somite size, abnormal stapes posterior crus morphology, abnormal sternocostal joint morphology, abnormal styloid process morphology, abnormal tail development, abnormal tail morphology, abnormal tarsal bone morphology, abnormal temporal bone squamous part morphology, abnormal thoracic vertebrae morphology, abnormal trochlear nerve morphology, abnormal visceral yolk sac endoderm morphology, abnormal visceral yolk sac mesenchyme morphology, abnormal visceral yolk sac morphology, abnormal viscerocranium morphology, absent cochlear outer hair cells, absent gonial bone, absent incus lenticular process, absent inferior colliculus, absent limb buds, absent organ of Corti supporting cells, absent round window, absent second pharyngeal arch, absent somites, absent stapes head, absent tympanic ring, absent visceral yolk sac blood islands, bleb, broad limb buds, caudal body truncation, cervical vertebral transformation, craniofacial phenotype, decreased body size, decreased caudal vertebrae number, decreased cochlear hair cell number, decreased cochlear outer hair cell number, decreased embryo size, decreased endocochlear potential, decreased inferior colliculus size, decreased litter size, decreased lumbar vertebrae number, decreased neuron number, decreased paraxial mesoderm size, decreased somite size, decreased testis weight, decreased thoracic vertebrae number, decreased tympanic ring size, delayed vaginal opening, dilated heart left ventricle, early reproductive senescence, embryonic growth arrest, embryonic growth retardation, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality between implantation and somite formation, incomplete penetrance, embryonic lethality between somite formation and embryo turning, complete penetrance, embryonic lethality between somite formation and embryo turning, incomplete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality prior to tooth bud stage, embryonic lethality, complete penetrance, enlarged allantois, enlarged heart atrium, excessive cerumen, excessive folding of visceral yolk sac, failure of heart looping, failure of palatal shelf elevation, failure of primitive streak formation, failure of somite differentiation, fusion of atlas and occipital bones, growth/size/body region phenotype, hearing/vestibular/ear phenotype, homeostasis/metabolism phenotype, increased axial mesoderm size, increased cochlear inner hair cell number, increased or absent threshold for auditory brainstem response, increased osteoblast cell number, increased osteoblast proliferation, increased respiratory quotient, increased susceptibility to otitis media, increased thoracic vertebrae number, incus hypoplasia, integument phenotype, kinked neural tube, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, long incisors, lumbar vertebral transformation, malleus hypoplasia, middle ear ossicle hypoplasia, neonatal lethality, complete penetrance, no abnormal phenotype detected, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, premature maxillary-premaxillary suture closure, premature metopic suture closure, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, sacral vertebral transformation, second pharyngeal arch hypoplasia, short mandible, short tail, small cranium, small gonial bone, small proamniotic cavity, small round window, small second pharyngeal arch, small visceral yolk sac, stapes hypoplasia, styloid process hypoplasia, thin myocardium, thoracic vertebral transformation, tympanic ring hypoplasia, vertebral transformation, vision/eye phenotype