Abnormality of the neck, Abnormality of the tongue, Absence of labia majora, Akinesia, Amyoplasia, Antecubital pterygium, Anterior clefting of vertebral bodies, Aortic aneurysm, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the skin, Arachnodactyly, Arthrogryposis multiplex congenita, Axillary pterygium, Bilateral camptodactyly, Camptodactyly of finger, Camptodactyly of toe, Cleft palate, Cognitive impairment, Conductive hearing impairment, Congenital diaphragmatic hernia, Cryptorchidism, Cystic hygroma, Decreased fetal movement, Depressed nasal ridge, Diaphragmatic eventration, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Dysplastic patella, Edema, Epicanthus, Exostosis of the external auditory canal, Facial asymmetry, Failure to thrive, Fetal akinesia sequence, Finger syndactyly, Flexion contracture, Fused cervical vertebrae, Gait disturbance, Hearing abnormality, Hearing impairment, High palate, Hip dislocation, Hypertelorism, Hypogonadism, Hypoplasia of penis, Hypoplastic heart, Hypoplastic nipples, Hypospadias, Increased susceptibility to fractures, Intercrural pterygium, Intrauterine growth retardation, Joint dislocation, Kyphosis, Limitation of joint mobility, Long clavicles, Long face, Long philtrum, Low posterior hairline, Low-set ears, Malignant hyperthermia, Microcephaly, Micrognathia, Morphological abnormality of the gastrointestinal tract, Multiple pterygia, Narrow mouth, Neck pterygia, Neonatal respiratory distress, Nevus, Orofacial cleft, Patellar aplasia, Pectus excavatum, Pointed chin, Polyhydramnios, Popliteal pterygium, Pterygium, Ptosis, Pulmonary hypoplasia, Rib fusion, Rocker bottom foot, Scoliosis, Short finger, Short stature, Skeletal muscle atrophy, Small scrotum, Spina bifida occulta, Strabismus, Symphalangism affecting the phalanges of the hand, Syndactyly, Talipes calcaneovalgus, Talipes equinovarus, Telecanthus, Thin ribs, Umbilical hernia, Vertebral fusion, Vertebral segmentation defect, Webbed neck

behavior/neurological phenotype, decreased embryo size, hindlimb paralysis, increased motor neuron number, increased variability of skeletal muscle fiber size, muscle phenotype, neonatal lethality, complete penetrance, no spontaneous movement, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, thin diaphragm muscle, trunk curl