Atrial septal defect, Bicornuate uterus, Bilateral single transverse palmar creases, Biliary tract abnormality, Blue sclerae, Bowing of the long bones, Brachycephaly, Brachydactyly, Cafe-au-lait spot, Cataract, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypertrophy, Coloboma, Complete duplication of thumb phalanx, Cranial nerve paralysis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged labia minora, Eyelid coloboma, Failure to thrive, Fair hair, Finger syndactyly, Frontal encephalocele, Glaucoma, Global developmental delay, High palate, Hip contracture, Horseshoe kidney, Hydrocephalus, Hypertelorism, Hypoplasia of the radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Knee flexion contracture, Long penis, Low-set ears, Malar flattening, Mesomelic arm shortening, Microcephaly, Micrognathia, Microphthalmia, Midface capillary hemangioma, Narrow naris, Nystagmus, Opacification of the corneal stroma, Patellar aplasia, Patent ductus arteriosus, Phocomelia, Polycystic kidney dysplasia, Polyhydramnios, Posteriorly rotated ears, Premature birth, Premature separation of centromeric heterochromatin, Progressive flexion contractures, Proptosis, Proximal placement of thumb, Radial deviation of finger, Radioulnar synostosis, Sandal gap, Seizure, Severe intrauterine growth retardation, Shallow orbits, Short neck, Short stature, Short thumb, Sparse hair, Syndactyly, Synostosis of carpal bones, Talipes equinovalgus, Tetraphocomelia, Thrombocytopenia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide nasal bridge, Wormian bones, Wrist flexion contracture, obsolete Abnormality of the metacarpal bones, obsolete External ear malformation, obsolete Hand oligodactyly

embryonic lethality before implantation, complete penetrance, increased mitotic index, increased neuron apoptosis