Aplasia of metacarpal bones, Aplastic clavicle, Arrhythmia, Atrial septal defect, Bladder diverticulum, Broad hallux phalanx, Carpal bone hypoplasia, Carpal synostosis, Cataract, Choanal atresia, Choanal stenosis, Chorioretinal coloboma, Cleft palate, Coloboma, Conductive hearing impairment, Crossed fused renal ectopia, Duane anomaly, Epicanthus, External ophthalmoplegia, Facial asymmetry, Facial palsy, Failure to thrive, Finger syndactyly, Fused cervical vertebrae, Hearing impairment, Horseshoe kidney, Hydronephrosis, Hypertelorism, Hypoplasia of deltoid muscle, Hypoplasia of the radius, Hypoplasia of the ulna, Impaired convergence, Impaired ocular abduction, Impaired ocular adduction, Intestinal malrotation, Iris coloboma, Joint stiffness, Leukocytosis, Limited elbow movement, Limited interphalangeal movement, Limited wrist movement, Microcornea, Microphthalmia, Nystagmus, Optic disc coloboma, Optic disc hypoplasia, Palpebral fissure narrowing on adduction, Pectoralis hypoplasia, Pectoralis major hypoplasia, Pes planus, Preaxial hand polydactyly, Preaxial polydactyly, Ptosis, Radial club hand, Radial deviation of the hand, Radioulnar synostosis, Rectovaginal fistula, Renal agenesis, Renal hypoplasia, Renal hypoplasia/aplasia, Renal malrotation, Retinal coloboma, Sandal gap, Scoliosis, Sensorineural hearing impairment, Severe short stature, Short 1st metacarpal, Short distal phalanx of the thumb, Short hallux, Short humerus, Short palpebral fissure, Short thumb, Slit-like opening of the exterior auditory meatus, Small thenar eminence, Spina bifida occulta, Strabismus, Syndactyly, Synostosis of carpal bones, Talipes equinovarus, Tetralogy of Fallot, Thrombocytopenia, Toe syndactyly, Triphalangeal thumb, Upper limb muscle hypoplasia, Vascular dilatation, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Vesicoureteral reflux, Visual impairment

abnormal mesendoderm development, abnormal nasal bone morphology, abnormal perineum morphology, abnormal phalanx morphology, abnormal pinna reflex, abnormal primitive endoderm morphology, abnormal rostral-caudal body axis extension, absent egg cylinders, absent enteric neurons, absent pinna reflex, absent primitive node, absent triquetrum, absent trophoblast giant cells, anovaginal fistula, conductive hearing loss, decreased cell proliferation, decreased embryo size, decreased inner cell mass proliferation, delayed blastocyst hatching from the zona pellucida, disorganized myocardium, ear inflammation, embryonic growth arrest, embryonic lethality before implantation, complete penetrance, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality during organogenesis, embryonic lethality during organogenesis, incomplete penetrance, hearing/vestibular/ear phenotype, increased susceptibility to otitis media, kinked tail, lethality throughout fetal growth and development, incomplete penetrance, limbs/digits/tail phenotype, megacolon, middle ear effusion, open neural tube, postnatal lethality, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, small embryonic epiblast, thin myocardium, vision/eye phenotype