Abnormality of retinal pigmentation, Abnormality of the dentition, Abnormality of the ear, Abnormality of the neck, Abnormality of the skin, Abnormality of the tongue, Absence of labia majora, Absent palmar crease, Absent phalangeal crease, Adducted thumb, Antecubital pterygium, Anterior clefting of vertebral bodies, Anteverted nares, Aortic aneurysm, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the skin, Arachnodactyly, Arthralgia, Arthrogryposis multiplex congenita, Axillary pterygium, Barrel-shaped chest, Bilateral camptodactyly, Bilateral single transverse palmar creases, Blepharophimosis, Block vertebrae, Bowed humerus, Brachydactyly, Breech presentation, Broad face, Broad nasal tip, C2-C3 subluxation, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Carpal synostosis, Cataract, Cerebellar atrophy, Chin with H-shaped crease, Cleft palate, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Congenital diaphragmatic hernia, Coxa vara, Craniosynostosis, Cryptorchidism, Decreased fetal movement, Deeply set eye, Delayed skeletal maturation, Dental crowding, Depressed nasal ridge, Diaphragmatic eventration, Dimple chin, Dislocated radial head, Disproportionate short-trunk short stature, Distal arthrogryposis, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Dysplastic patella, Elbow flexion contracture, Enamel hypoplasia, Epicanthus, Epiphyseal dysplasia, Exostosis of the external auditory canal, Facial asymmetry, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties in infancy, Finger syndactyly, Flat face, Flexion contracture, Flexion contracture of finger, Flexion contracture of toe, Frontal bossing, Fused cervical vertebrae, Gait disturbance, Growth delay, Hallux valgus, Hearing abnormality, Hearing impairment, Hemivertebrae, Hernia, High palate, Hip contracture, Hip dislocation, Hyperlordosis, Hypertelorism, Hypogonadism, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the odontoid process, Hypoplastic nipples, Hypospadias, Intellectual disability, Intercrural pterygium, Intrauterine growth retardation, Joint contracture of the hand, Joint dislocation, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Limitation of joint mobility, Limited elbow extension, Long clavicles, Long face, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Malignant hyperthermia, Mandibular prognathia, Mask-like facies, Metatarsus adductus, Microcephaly, Micrognathia, Mixed hearing impairment, Morphological abnormality of the gastrointestinal tract, Motor delay, Multiple pterygia, Muscle weakness, Narrow face, Narrow mouth, Nasal speech, Neck pterygia, Neonatal respiratory distress, Neurological speech impairment, Nevus, Oligohydramnios, Orofacial cleft, Overlapping fingers, Patellar aplasia, Pectus carinatum, Pectus excavatum, Pes planus, Platybasia, Pointed chin, Polyhydramnios, Popliteal pterygium, Preauricular skin tag, Prenatal movement abnormality, Prominent forehead, Prominent nasolabial fold, Protruding ear, Pterygium, Ptosis, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Recurrent respiratory infections, Renal cyst, Restricted neck movement due to contractures, Restrictive ventilatory defect, Rib fusion, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Seizure, Sensorineural hearing impairment, Short metacarpal, Short neck, Short nose, Short stature, Shoulder flexion contracture, Skeletal muscle atrophy, Small for gestational age, Small foramen magnum, Small scrotum, Spina bifida occulta, Spondylolisthesis, Strabismus, Symphalangism affecting the phalanges of the hand, Syndactyly, Talipes calcaneovalgus, Talipes equinovarus, Tarsal synostosis, Telecanthus, Triangular face, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Umbilical hernia, Underdeveloped nasal alae, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Whistling appearance, Wide nasal bridge, Wrist flexion contracture