Alveolar rhabdomyosarcoma, Aplasia of the vagina, Aplasia/Hypoplasia involving the nose, Atelectasis, Atrial septal defect, Blepharophimosis, Blue irides, Brachydactyly, Camptodactyly of finger, Carpal synostosis, Cleft palate, Cleft upper lip, Clinodactyly, Congenital sensorineural hearing impairment, Cutaneous finger syndactyly, Depressed nasal bridge, Depressed nasal ridge, Downslanted palpebral fissures, Flat face, Hearing impairment, Heterochromia iridis, Hypertelorism, Hypopigmentation of hair, Hypopigmentation of the fundus, Hypopigmented skin patches, Hypoplasia of the maxilla, Hypoplastic iris stroma, Intellectual disability, Joint contracture of the hand, Joint stiffness, Lacrimal duct atresia, Lacrimation abnormality, Malar flattening, Mandibular prognathia, Meningocele, Microcephaly, Myelomeningocele, Narrow face, Narrow mouth, Narrow nasal bridge, Oral cleft, Partial albinism, Premature graying of hair, Prominent nasal bridge, Ptosis, Scapular winging, Scoliosis, Sensorineural hearing impairment, Short nose, Smooth philtrum, Spastic paraplegia, Spina bifida, Sprengel anomaly, Strabismus, Supernumerary ribs, Supernumerary vertebrae, Synophrys, Synostosis of carpal bones, Telecanthus, Tented upper lip vermilion, Thick eyebrow, Tracheomalacia, Ulnar deviation of finger, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Underdeveloped nasal alae, White eyebrow, White eyelashes, White forelock, White hair, Wide nasal bridge

abnormal dorsal root ganglion morphology, abnormal embryo morphology, abnormal endolymphatic duct morphology, abnormal eyelid development, abnormal forelimb morphology, abnormal hind foot hair pigmentation, abnormal hindlimb morphology, abnormal hypoglossal cord morphology, abnormal intercostal muscle morphology, abnormal limb morphology, abnormal mammary line morphology, abnormal mammary placode morphology, abnormal midbrain development, abnormal muscle development, abnormal muscle precursor cell migration, abnormal myocardial fiber physiology, abnormal myogenesis, abnormal myotome development, abnormal myotome morphology, abnormal nasal bone morphology, abnormal neural crest cell migration, abnormal neural fold elevation formation, abnormal osteoblast differentiation, abnormal otic vesicle development, abnormal palate morphology, abnormal pharyngeal arch artery morphology, abnormal pterygoid process morphology, abnormal rib development, abnormal secondary palate development, abnormal sixth pharyngeal arch artery morphology, abnormal skeletal muscle morphology, abnormal somite border morphology, abnormal somite development, abnormal sternum morphology, abnormal tail hair pigmentation, abnormal tail morphology, abnormal thymus morphology, abnormal ventral coat pigmentation, absent alisphenoid bone, absent coat pigmentation, absent dorsal root ganglion, absent frontal bone, absent hypaxial muscle, absent interparietal bone, absent olfactory bulb, absent parietal bone, absent pterygoid process, absent skeletal muscle, absent ultimobranchial body, alisphenoid bone hypoplasia, belly spot, cardiovascular system phenotype, caudal rachischisis, common truncal valve, cranioschisis, curly tail, decreased birth body size, decreased body size, decreased cell proliferation, decreased embryo size, decreased satellite cell number, decreased skeletal muscle fiber diameter, decreased skeletal muscle mass, decreased tail pigmentation, decreased tympanic ring size, decreased ventricle muscle contractility, delayed neural tube closure, dilated heart left ventricle, diluted coat color, disorganized dorsal root ganglion, embryo phenotype, embryonic lethality, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryonic lethality, incomplete penetrance, failure of eyelid fusion, failure of palatal shelf elevation, failure to gastrulate, forebrain hypoplasia, head spot, hearing/vestibular/ear phenotype, hypaxial muscle hypoplasia, incomplete rostral neuropore closure, increased embryonic neuroepithelium apoptosis, increased mitotic index, increased skeletal muscle fiber density, integument phenotype, kinked tail, lacrimal bone hypoplasia, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, limbs/digits/tail phenotype, midbrain hyperplasia, muscle phenotype, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, open neural tube, optic placode degeneration, perinatal lethality, complete penetrance, persistent right dorsal aorta, postnatal lethality, postnatal lethality, complete penetrance, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, retroesophageal right subclavian artery, short endolymphatic duct, small dorsal root ganglion, small embryonic telencephalon, small thyroid gland, spina bifida cystica, thin diaphragm muscle, transverse fur striping, turbinate hypoplasia, vision/eye phenotype, white spotting