Abdominal distention, Abdominal symptom, Abdominal wall defect, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal bone ossification, Abnormal bone structure, Abnormal diaphysis morphology, Abnormal external genitalia, Abnormal facial shape, Abnormal foot bone ossification, Abnormal form of the vertebral bodies, Abnormal hair quantity, Abnormal internal genitalia, Abnormality involving the diaphyses of the limbs, Abnormality involving the epiphyses of the limbs, Abnormality involving the epiphyses of the upper limbs, Abnormality of blood and blood-forming tissues, Abnormality of body height, Abnormality of body weight, Abnormality of bone mineral density, Abnormality of calvarial morphology, Abnormality of cardiac ventricle, Abnormality of cardiovascular system physiology, Abnormality of central motor function, Abnormality of coagulation, Abnormality of connective tissue, Abnormality of cranial sutures, Abnormality of dental eruption, Abnormality of facial skeleton, Abnormality of finger, Abnormality of fontanelles, Abnormality of globe location, Abnormality of hair texture, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of immune system physiology, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of mouth size, Abnormality of movement, Abnormality of muscle morphology, Abnormality of neuronal migration, Abnormality of pelvic girdle bone morphology, Abnormality of phalanx of finger, Abnormality of primary teeth, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of the 2nd finger, Abnormality of the 5th finger, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the abdominal wall, Abnormality of the anterior fontanelle, Abnormality of the aortic valve, Abnormality of the atrioventricular valves, Abnormality of the calcaneus, Abnormality of the calf, Abnormality of the calvaria, Abnormality of the cardiovascular system, Abnormality of the carpal bones, Abnormality of the central nervous system, Abnormality of the cerebral ventricles, Abnormality of the clavicles, Abnormality of the clivus, Abnormality of the coagulation cascade, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the distal phalanx of finger, Abnormality of the ear, Abnormality of the elbow, Abnormality of the epiphyses, Abnormality of the epiphyses of the hand, Abnormality of the epiphyses of the phalanges of the hand, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the femoral neck, Abnormality of the femoral neck and head region, Abnormality of the femur, Abnormality of the fibula, Abnormality of the fifth metatarsal bone, Abnormality of the fontanelles and cranial sutures, Abnormality of the foot, Abnormality of the foramen magnum, Abnormality of the forearm, Abnormality of the forehead, Abnormality of the frontal sinuses, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the hand, Abnormality of the hard palate, Abnormality of the head, Abnormality of the heart, Abnormality of the heart valves, Abnormality of the hip bone, Abnormality of the hip joint, Abnormality of the humeroradial joint, Abnormality of the ilium, Abnormality of the immune system, Abnormality of the inner ear, Abnormality of the integument, Abnormality of the intestine, Abnormality of the joints of the lower limbs, Abnormality of the joints of the upper limbs, Abnormality of the kidney, Abnormality of the knees, Abnormality of the larynx, Abnormality of the lower limb, Abnormality of the lower urinary tract, Abnormality of the lung, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the metacarpal bones, Abnormality of the metaphyses, Abnormality of the metatarsal bones, Abnormality of the middle ear, Abnormality of the midface, Abnormality of the mitral valve, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the musculature of the limbs, Abnormality of the musculature of the upper limbs, Abnormality of the nail, Abnormality of the nasal bridge, Abnormality of the neck, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the odontoid process, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the palate, Abnormality of the palpebral fissures, Abnormality of the penis, Abnormality of the periorbital region, Abnormality of the philtrum, Abnormality of the pinna, Abnormality of the posterior cranial fossa, Abnormality of the pulmonary artery, Abnormality of the pulmonary vasculature, Abnormality of the pylorus, Abnormality of the radial head, Abnormality of the radius, Abnormality of the renal pelvis, Abnormality of the respiratory system, Abnormality of the ribs, Abnormality of the right ventricle, Abnormality of the scapula, Abnormality of the shoulder girdle musculature, Abnormality of the sinuses, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the skull base, Abnormality of the sternum, Abnormality of the stomach, Abnormality of the supraorbital ridges, Abnormality of the systemic arterial tree, Abnormality of the tarsal bones, Abnormality of the teeth, Abnormality of the testis, Abnormality of the thorax, Abnormality of the thumb, Abnormality of the tibia, Abnormality of the tricuspid valve, Abnormality of the ulna, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the upper urinary tract, Abnormality of the ureter, Abnormality of the urethra, Abnormality of the urinary system, Abnormality of the vasculature, Abnormality of the vertebrae, Abnormality of the vertebral column, Abnormality of the voice, Abnormality of the wrist, Abnormality of the zygomatic arch, Abnormality of thrombocytes, Abnormality of toe, Abnormal joint morphology, Abnormal location of ears, Abnormal metacarpal morphology, Abnormal metatarsal ossification, Abnormal nasal morphology, Abnormal number of teeth, Abnormal platelet count, Abnormal shape of the frontal region, Abnormal shape of the occiput, Absent frontal sinuses, Absent thumb, Accessory carpal bones, Age of onset, All, Amyotrophy, Antegonial notching of mandible, Anterior concavity of thoracic vertebrae, Anteriorly placed odontoid process, Aortic regurgitation, Aplasia/Hypoplasia affecting bones of the axial skeleton, Aplasia/Hypoplasia involving bones of the feet, Aplasia/Hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia involving bones of the skull, Aplasia/Hypoplasia involving bones of the thorax, Aplasia/Hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia involving the sinuses, Aplasia/Hypoplasia involving the skeleton, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the extremities, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the frontal sinuses, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the thumb, Aplasia of the fingers, Arachnodactyly, Bipartite calcaneus, Bowed forearm bones, Bowing of the arm, Bowing of the legs, Bowing of the long bones, Broad distal phalanx of finger, Broad face, Broad finger, Broad phalanges of the hand, Broad phalanx, Bulbous tips of toes, Carpal synostosis, Cleft palate, Coarse facial features, Coarse hair, Coat hanger sign of ribs, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Confusion, Congenital hip dislocation, Congenital malformation of the great arteries, Congestive heart failure, Contractures of the joints of the upper limbs, Cor pulmonale, Coxa valga, Cryptorchidism, Decreased body weight, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Dental malocclusion, Deviation of finger, Deviation of the 2nd finger, Deviation of the hand or of fingers of the hand, Dilatation of the renal pelvis, Dislocated radial head, Displacement of the external urethral meatus, Downslanted palpebral fissures, Duplication of bones involving the upper extremities, Duplication of hand bones, Duplication of phalanx of hand, Elbow dislocation, Elbow flexion contracture, Elevated pulmonary artery pressure, Failure to thrive, Fibular aplasia, Flared metaphyses, Flexion contracture, Frontal bossing, Functional abnormality of the inner ear, Functional abnormality of the middle ear, Functional respiratory abnormality, Fused cervical vertebrae, Gait disturbance, Gastrointestinal dysmotility, Genu valgum, Genu varum, Global developmental delay, Gonosomal inheritance, Growth abnormality, Growth delay, Hearing abnormality, Hearing impairment, Hernia, Hernia of the abdominal wall, Heterotopia, High palate, Hip dislocation, Hirsutism, Hoarse voice, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypertonia, Hypoplastic ilia, Hypospadias, Impacted tooth, Increased bone mineral density, Increased density of long bone diaphyses, Increased density of long bones, Infantile onset, Intellectual disability, Intellectual disability, mild, Intestinal malrotation, Intestinal pseudo-obstruction, Irregular metacarpals, Joint dislocation, Kyphoscoliosis, Kyphosis, Large feet, Large fontanelles, Large foramen magnum, Limb joint contracture, Limitation of joint mobility, Limited elbow extension, Limited elbow movement, Limited knee extension, Limited knee flexion, limited knee flexion/extension, Long fingers, Long neck, Long phalanx of finger, Long toe, Low-set ears, Macrotia, Malar flattening, Malformation of the heart and great vessels, Metaphyseal widening, Midline defect of mandible, Misalignment of teeth, Mitral regurgitation, Mitral valve prolapse, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Multiple impacted teeth, Nail dysplasia, Narrow chest, Narrow mouth, Nausea and vomiting, Nonossified fifth metatarsal, Obtuse angle of mandible, Omphalocele, Onset, Onset and clinical course, Oral cleft, Osteolysis, Osteolytic defects of the hand bones, Osteolytic defects of the phalanges of the hand, Otitis media, Overlapping fingers, Partial fusion of carpals, Partial fusion of tarsals, Patent ductus arteriosus, Pectus excavatum, Persistence of primary teeth, Pes planus, Phenotypic abnormality, Platyspondyly, Polydactyly, Polydactyly (hands), Positional foot deformities, Postaxial polydactyly, Postaxial polydactyly (hands), Posteriorly rotated ears, Prominent occiput, Prominent supraorbital ridges, Proptosis, Pulmonary hypertension, Pyloric stenosis, Radial bowing, Radial deviation of finger, Radial deviation of the 2nd finger, Radial deviation of the hand or of fingers of the hand, Recurrent infections, Recurrent otitis media, Recurrent respiratory infections, Reduced consciousness/confusion, Reduced number of teeth, Respiratory insufficiency, Respiratory tract infection, Rudimentary to absent fibulae, Sandal gap, Scapular winging, Sclerosis of skull base, Scoliosis, Selective tooth agenesis, Sensorineural hearing impairment, Short chordae tendineae of the tricuspid valve, Short clavicles, Short long bones, Short metatarsal bone, Short nose, Short ribs, Short stature, Slanting of the palpebral fissure, Slender finger, Small face, Smooth philtrum, Spastic diplegia, Spasticity, Spondylolysis, Strabismus, Stridor, Syndactyly, Synostosis involving bones of the feet, Synostosis involving bones of the hand, Synostosis involving bones of the lower limbs, Synostosis involving bones of the upper limbs, Synostosis of carpal bones, Synostosis of carpals/tarsals, Synostosis of joints, Talipes, Talipes equinovarus, Tarsal synostosis, Thick skull base, Thoracic hypoplasia, Thoracoabdominal wall defects, Thrombocytopenia, Tibial bowing, Toe syndactyly, Tricuspid regurgitation, Tricuspid valve prolapse, Ulnar bowing, Undulate clavicles, Unerupted tooth, Ureteral stenosis, Vertebral fusion, Vertical clivus, Vomiting, Wide anterior fontanel, Wide nasal bridge, Wormian bones, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance.