Brachycephaly, Brachydactyly, Broad thumb, Camptodactyly, Cerebral atrophy, Clinodactyly of the 5th finger, Cloverleaf skull, Complete duplication of proximal phalanx of the thumb, Conductive hearing impairment, Coronal craniosynostosis, Coxa valga, Craniosynostosis, Cryptorchidism, Depressed nasal bridge, Deviation of finger, Duplication of the proximal phalanx of the hallux, Epicanthus, External genital hypoplasia, Finger syndactyly, Flared iliac wing, Genu valgum, Genu varum, High palate, Hydronephrosis, Hydroureter, Hypoplasia of the maxilla, Intellectual disability, Joint contracture of the hand, Kyphoscoliosis, Lambdoidal craniosynostosis, Large foramen magnum, Lateral displacement of patellae, Low-set ears, Malar flattening, Metatarsus adductus, Microcornea, Micrognathia, Midface retrusion, Obesity, Omphalocele, Opacification of the corneal stroma, Optic atrophy, Oxycephaly, Patent ductus arteriosus, Persistence of primary teeth, Polydactyly, Polysplenia, Postaxial hand polydactyly, Preauricular pit, Preaxial foot polydactyly, Precocious puberty, Pseudoepiphyses of the proximal phalanges of the hand, Pulmonic stenosis, Sacral dimple, Sagittal craniosynostosis, Scoliosis, Sensorineural hearing impairment, Shallow acetabular fossae, Short neck, Short stature, Spina bifida occulta, Syndactyly, Talipes equinovarus, Telecanthus, Tetralogy of Fallot, Toe syndactyly, Transposition of the great arteries, Turricephaly, Umbilical hernia, Underdeveloped supraorbital ridges, Ventricular septal defect

abnormal spinal cord central canal morphology, abnormal tarsal bone morphology, abnormal vertebral arch development, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, incomplete caudal neuropore closure, open neural tube, preweaning lethality, complete penetrance, skin detachment