Aplasia/Hypoplasia involving the carpal bones, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia involving the pelvis, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of the 5th finger, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/Hypoplasia of the pubic bone, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia of the tarsal bones, Aplasia/Hypoplasia of the ulna, Aplasia/hypoplasia of the extremities, Aplasia/hypoplasia of the femur, Aplastic pubic bones, Barrel-shaped chest, Bowing of the long bones, Broad clavicles, Broad neck, Broad ribs, Calvarial skull defect, Carpal bone aplasia, Cleft palate, Clinodactyly, Congenital hip dislocation, Congenital pseudoarthrosis of the clavicle, Cryptorchidism, Decreased calvarial ossification, Disproportionate short stature, Ectrodactyly, Elbow ankylosis, Elbow flexion contracture, Epicanthus, Femoral bowing, Fibular aplasia, Finger syndactyly, Foot oligodactyly, Hemivertebrae, High palate, High, narrow palate, Hip dislocation, Humeroradial synostosis, Hydrops fetalis, Hypoplasia of penis, Hypoplasia of the radius, Hypoplastic iliac wing, Hypoplastic nipples, Hypoplastic pelvis, Hypospadias, Intrauterine growth retardation, Long ear, Long face, Low-set ears, Meningocele, Micrognathia, Micromelia, Nail dysplasia, Narrow palate, Occipital meningocele, Patellar aplasia, Pectus carinatum, Phocomelia, Pilonidal sinus, Postaxial hand polydactyly, Prominent sternum, Protruding ear, Radial bowing, Short foot, Short neck, Short nose, Short stature, Small scrotum, Split hand, Talipes equinovarus, Toe syndactyly, Tracheoesophageal fistula, Ulnar deviation of finger, Wide nasal bridge, obsolete Hand oligodactyly

abnormal uterus morphology, abnormal vascular endothelial cell morphology, absent endometrial glands, decreased presacral vertebrae number, failure of Mullerian duct regression, fused phalanges, hearing/vestibular/ear phenotype, hemimelia, limb grasping, no abnormal phenotype detected, prenatal lethality, incomplete penetrance, reproductive system phenotype, scapular bone foramen, short oviduct, skeleton phenotype, small uterus, thin myometrium, thin uterus, vision/eye phenotype