Abnormality of the small intestine, Abnormality of the thymus, Absent eyebrow, Absent eyelashes, Ambiguous genitalia, Anal atresia, Anal stenosis, Anophthalmia, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb, Atresia of the external auditory canal, Bicornuate uterus, Bifid tongue, Bilateral microphthalmos, Blindness, Calvarial skull defect, Choanal stenosis, Cleft ala nasi, Cleft palate, Cleft upper lip, Clitoral hypertrophy, Conductive hearing impairment, Corneal opacity, Cryptophthalmos, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dental crowding, Dental malocclusion, Depressed nasal bridge, Difficulty in tongue movements, Ectopic anus, Encephalocele, Extension of hair growth on temples to lateral eyebrow, Female pseudohermaphroditism, Finger syndactyly, High palate, Hydrocephalus, Hypertelorism, Hypoplasia of penis, Hypoplastic superior helix, Hypospadias, Intellectual disability, Lacrimal duct aplasia, Laryngeal atresia, Laryngeal stenosis, Laryngeal web, Low-set ears, Low-set, posteriorly rotated ears, Malformed lacrimal duct, Microcephaly, Micropenis, Microphthalmia, Midline nasal groove, Morphological abnormality of the middle ear, Multicystic kidney dysplasia, Myelomeningocele, Omphalocele, Orofacial cleft, Pulmonary hypoplasia, Renal hypoplasia, Renal hypoplasia/aplasia, Severe T-cell immunodeficiency, Small scrotum, Subglottic stenosis, Tessier cleft, Toe syndactyly, Tracheal stenosis, Umbilical hernia, Underdeveloped nasal alae, Upper eyelid coloboma, Urethral atresia, Vaginal atresia, Vertebral segmentation defect, Wide intermamillary distance, Wide nasal bridge, Wide nose, Wide pubic symphysis, obsolete External ear malformation

abnormal palatal shelf fusion at midline, abnormal renal glomerulus morphology, abnormal secondary palate development, abnormal sternebra morphology, abnormal sternum morphology, abnormal ureteric bud morphology, bleb, cortical renal glomerulopathies, craniofacial phenotype, delayed kidney development, eyelids open at birth, fetal bleb, fused right lung lobes, impaired branching involved in ureteric bud morphogenesis, increased metanephric mesenchyme apoptosis, integument phenotype, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, prenatal lethality, incomplete penetrance, renal/urinary system phenotype, small kidney, subcutaneous hemorrhage