Abnormal heart morphology, Abnormal lung lobation, Abnormal muscle fiber morphology, Abnormal prolactin level, Abnormal pulmonary valve morphology, Abnormality of calvarial morphology, Abnormality of the pinna, Abnormality of the skeletal system, Absent hallux, Absent radius, Accelerated skeletal maturation, Accessory oral frenulum, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency, Agenesis of corpus callosum, Ambiguous genitalia, Anal atresia, Anteverted nares, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the vagina, Aplasia/hypoplasia of the uterus, Arrhinencephaly, Atresia of the external auditory canal, Atrial septal defect, Atrioventricular canal defect, Auricular tag, Bifid distal phalanx of the thumb, Bifid epiglottis, Bifid uvula, Bilateral postaxial polydactyly, Bilateral renal agenesis, Brachydactyly, Broad forehead, Broad hallux, Broad hallux phalanx, Broad thumb, Broad toe, Camptodactyly of toe, Central adrenal insufficiency, Cerebellar hypoplasia, Choanal atresia, Cleft lip, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Coarctation of aorta, Coloboma, Congenital diaphragmatic hernia, Coxa valga, Craniosynostosis, Cryptorchidism, Cutaneous finger syndactyly, Dandy-Walker malformation, Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Decreased testicular size, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Distal arthrogryposis, Distal shortening of limbs, Distal urethral duplication, Dolichocephaly, Downslanted palpebral fissures, Duplication of phalanx of hallux, Duplication of thumb phalanx, Dysplastic distal thumb phalanges with a central hole, Ectopic kidney, Epicanthus, Facial grimacing, Failure to thrive, Finger syndactyly, Focal emotional seizure with laughing, Foot oligodactyly, Frontal bossing, Generalized hypotonia, Global developmental delay, Gonadotropin deficiency, Growth delay, Hearing impairment, Hemivertebrae, High forehead, High palate, Hip dislocation, Hip dysplasia, Hirsutism, Holoprosencephaly, Hydrocephalus, Hydrometrocolpos, Hydronephrosis, Hydroureter, Hyperglycemia, Hypertelorism, Hypopigmentation of the fundus, Hypopituitarism, Hypoplasia of teeth, Hypoplasia of the epiglottis, Hypospadias, Hypothalamic hamartoma, Hypotonia, Increased laxity of ankles, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Intracranial cystic lesion, Intrauterine growth retardation, Joint contracture of the hand, Knee flexion contracture, Large for gestational age, Laryngeal cleft, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Mesoaxial polydactyly, Mesomelia, Mesomelic leg shortening, Metatarsus adductus, Metopic synostosis, Microglossia, Micropenis, Microphthalmia, Microretrognathia, Microtia, Midline facial capillary hemangioma, Myelomeningocele, Nail dysplasia, Natal tooth, Nystagmus, Oligodactyly, Oligohydramnios, Open mouth, Optic atrophy, Osteochondroma, Overlapping toe, Panhypopituitarism, Paroxysmal bursts of laughter, Partial absence of foot, Patent ductus arteriosus, Pituitary hypothyroidism, Polydactyly, Polydactyly affecting the 3rd finger, Polydactyly affecting the 4th finger, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Preauricular skin tag, Preaxial foot polydactyly, Preaxial hand polydactyly, Preaxial polydactyly, Precocious puberty, Preductal coarctation of the aorta, Primary adrenal insufficiency, Prominent forehead, Prominent occiput, Proximal tibial and fibular fusion, Ptosis, Pulmonary valve defects, Radial bowing, Radial club hand, Radial head subluxation, Rectovaginal fistula, Recurrent upper and lower respiratory tract infections, Renal cyst, Renal dysplasia, Renal hypoplasia, Respiratory insufficiency, Rib fusion, Rudimentary to absent tibiae, Scaphocephaly, Secondary growth hormone deficiency, Seizure, Sensorineural hearing impairment, Short 4th metacarpal, Short nose, Short philtrum, Short stature, Short tibia, Skeletal dysplasia, Sloping forehead, Small scrotum, Smooth philtrum, Split foot, Split hand, Strabismus, Supernumerary metacarpal bones, Syndactyly, Talipes equinovarus, Tall stature, Tapered finger, Tarsal synostosis, Telecanthus, Thin vermilion border, Thyroid dysgenesis, Thyroid hypoplasia, Toe syndactyly, Triangular mouth, Trigonocephaly, Triphalangeal thumb, Umbilical hernia, Unilateral renal agenesis, Ventricular septal defect, Wide anterior fontanel, Wide nasal bridge, Y-shaped metacarpals

abnormal colon morphology, abnormal cranial ganglia morphology, abnormal craniofacial development, abnormal craniofacial morphology, abnormal cranium morphology, abnormal digit development, abnormal ear development, abnormal ear position, abnormal embryonic autopod plate morphology, abnormal embryonic tissue morphology, abnormal endochondral bone ossification, abnormal epidermis stratum basale morphology, abnormal eye development, abnormal folding of telencephalic vesicles, abnormal forehead morphology, abnormal forelimb morphology, abnormal forelimb zeugopod morphology, abnormal hallux morphology, abnormal hindlimb morphology, abnormal hippocampal fornix morphology, abnormal hippocampus development, abnormal hippocampus pyramidal cell layer, abnormal inferior colliculus morphology, abnormal interfrontal bone morphology, abnormal kidney morphology, abnormal lambdoid suture morphology, abnormal laryngeal cartilage morphology, abnormal left lung morphology, abnormal limb bud morphology, abnormal limb morphology, abnormal mammary gland bud morphology, abnormal mammary gland embryonic development, abnormal mammary line morphology, abnormal mammary placode morphology, abnormal maxilla morphology, abnormal medulla oblongata morphology, abnormal melanoblast morphology, abnormal metacarpal bone morphology, abnormal midbrain-hindbrain boundary morphology, abnormal nail morphology, abnormal nasal cavity morphology, abnormal nasal placode morphology, abnormal nasal septum morphology, abnormal neurocranium morphology, abnormal olfactory epithelium morphology, abnormal olfactory nerve morphology, abnormal olfactory tract morphology, abnormal optic chiasm morphology, abnormal optic cup morphology, abnormal optic stalk morphology, abnormal optic vesicle formation, abnormal orbitosphenoid bone morphology, abnormal otic capsule morphology, abnormal otic vesicle development, abnormal palatine bone horizontal plate morphology, abnormal pericardium morphology, abnormal phalanx morphology, abnormal pubis morphology, abnormal radial glial cell morphology, abnormal rhombomere morphology, abnormal right lung accessory lobe morphology, abnormal right lung caudal lobe morphology, abnormal right lung middle lobe morphology, abnormal spine curvature, abnormal sternum morphology, abnormal stratification in cerebral cortex, abnormal superior colliculus morphology, abnormal superior semicircular canal morphology, abnormal tectum morphology, abnormal telencephalon development, abnormal tooth development, abnormal vertebral arch morphology, abnormal vibrissa morphology, abnormal vibrissa number, abnormal xiphoid process morphology, absent adrenal gland, absent anterior commissure, absent hippocampal commissure, absent lateral semicircular canal, absent neurocranium, absent olfactory bulb, absent pineal gland, acoria, basisphenoid bone foramen, belly spot, bleb, bowed fibula, decreased lung weight, decreased nipple number, delayed neural tube closure, digestive/alimentary phenotype, ectopic ovary, embryonic growth retardation, embryonic lethality, embryonic lethality before implantation, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, enlarged cranium, enlarged first pharyngeal arch, enlarged tectum, eyelids fail to open, eyelids open at birth, failure of endochondral bone ossification, fusion of vertebral arches, hemimelia, incomplete rostral neuropore closure, increased diameter of humerus, increased diameter of radius, increased diameter of ulna, increased embryo size, increased forebrain size, increased total retina thickness, interdigital webbing, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, pigmentation phenotype, polyphalangy, polysyndactyly, postnatal lethality, postnatal lethality, complete penetrance, prenatal lethality, prenatal lethality, incomplete penetrance, reduced cerebellar foliation, sacral vertebral fusion, short radius, short scapula, skin edema, small basisphenoid bone, small lung, split sternal manubrium, spongiform encephalopathy, sternebra fusion, synostosis, thick apical ectodermal ridge, thick nasal septum, thin cerebral cortex, wavy neural tube, wide metopic suture, wide sagittal suture