Anophthalmia, Aplasia of the bladder, Atresia of the external auditory canal, Bicornuate uterus, Bifid tongue, Blindness, Calvarial skull defect, Cleft ala nasi, Cleft upper lip, Conductive hearing impairment, Cryptophthalmos, Cryptorchidism, Cutaneous syndactyly, Dental crowding, Dental malocclusion, Depressed nasal bridge, Ectopic anus, Encephalocele, External ear malformation, Female pseudohermaphroditism, Finger syndactyly, Glaucoma, High palate, Hypertelorism, Hypoplasia of penis, Hypospadias, Intellectual disability, Lacrimal duct aplasia, Laryngeal stenosis, Low-set, posteriorly rotated ears, Malformed lacrimal duct, Microcephaly, Microphthalmia, Midline nasal groove, Multicystic kidney dysplasia, Myelomeningocele, Narrow mouth, Omphalocele, Oral cleft, Pulmonary hypoplasia, Renal agenesis, Renal hypoplasia, Short thorax, Small scrotum, Subglottic stenosis, Toe syndactyly, Tracheal stenosis, Umbilical hernia, Underdeveloped nasal alae, Urethral atresia, Vaginal atresia, Vertebral segmentation defect, Wide intermamillary distance, Wide nasal bridge, Wide pubic symphysis

eye bleb, fetal bleb, fused phalanges, increased total retina thickness, iris synechia, irregular coat pigmentation, limbs/digits/tail phenotype, meroanencephaly, neonatal lethality, incomplete penetrance, open neural tube, perinatal lethality, incomplete penetrance, prenatal lethality, incomplete penetrance, renal/urinary system phenotype