Abnormal hand bone ossification, Abnormal heart valve morphology, Abnormal nervous system morphology, Abnormal oral frenulum morphology, Abnormal pinna morphology, Abnormal rib morphology, Abnormal vertebral segmentation and fusion, Abnormality of dental morphology, Abnormality of metabolism/homeostasis, Abnormality of neuronal migration, Abnormality of skin pigmentation, Abnormality of the coagulation cascade, Abnormality of the fifth metatarsal bone, Abnormality of the lower limb, Abnormality of the metaphysis, Abnormality of the pubic bone, Abnormality of the tarsal bones, Absent frontal sinuses, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Accessory carpal bones, Anisospondyly, Ankle flexion contracture, Anodontia, Antegonial notching of mandible, Anterior concavity of thoracic vertebrae, Anteriorly placed odontoid process, Aortic aneurysm, Aortic regurgitation, Arachnodactyly, Areflexia, Atrioventricular canal defect, Bicuspid aortic valve, Bipartite calcaneus, Bowing of the long bones, Brachydactyly, Broad distal phalanx of finger, Broad distal phalanx of the thumb, Broad face, Broad forehead, Broad hallux, Broad phalanges of the hand, Broad thumb, Bruising susceptibility, Bulbous tips of toes, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Carpal synostosis, Cataract, Cerebellar hypoplasia, Cleft palate, Coarse facial features, Coarse hair, Coat hanger sign of ribs, Cognitive impairment, Colonic diverticula, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Congenital diaphragmatic hernia, Congenital hip dislocation, Congenital shortened small intestine, Congestive heart failure, Cor pulmonale, Coxa valga, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Cutis laxa, Decreased circulating antibody level, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Dental malocclusion, Depressed nasal bridge, Depressed nasal tip, Developmental glaucoma, Dislocated radial head, Displacement of the urethral meatus, Downslanted palpebral fissures, Dysarthria, Elbow dislocation, Elbow flexion contracture, Encephalocele, Epicanthus, Episodic abdominal pain, Facial asymmetry, Failure to thrive, Feeding difficulties in infancy, Femoral bowing, Fibroma, Fibular aplasia, Flared iliac wing, Flared metaphysis, Flat face, Focal-onset seizure, Frontal bossing, Frontal hirsutism, Full cheeks, Functional intestinal obstruction, Fused cervical vertebrae, Gait ataxia, Gait disturbance, Gastroesophageal reflux, Genu valgum, Global developmental delay, Glossoptosis, Gray matter heterotopia, Hearing impairment, Hernia, High palate, Hip dislocation, Hirsutism, Hoarse voice, Hydrocephalus, Hydronephrosis, Hydroureter, Hyperextensible skin, Hypertelorism, Hypoplasia of the musculature, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic scapulae, Hypospadias, Impaired proprioception, Impaired vibratory sensation, Increased bone mineral density, Increased density of long bone diaphyses, Increased mean platelet volume, Increased size of the mandible, Intellectual disability, Intellectual disability, mild, Intestinal hypoplasia, Intestinal malrotation, Intestinal pseudo-obstruction, Iris coloboma, Irregular metacarpals, Joint hypermobility, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Large fontanelles, Large foramen magnum, Lateral femoral bowing, Limitation of joint mobility, Limited elbow extension, Limited knee flexion, Lipoatrophy, Localized skin lesion, Long foot, Long metacarpals, Long neck, Long phalanx of finger, Low-set ears, Macrotia, Malabsorption, Malar flattening, Mesomelic arm shortening, Mesomelic leg shortening, Micrognathia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Motor delay, Multiple impacted teeth, Multiple joint contractures, Myelomeningocele, Nail dysplasia, Nail dystrophy, Narrow chest, Narrow mouth, Natal tooth, Nonossified fifth metatarsal, Obtuse angle of mandible, Oligodontia, Omphalocele, Osteolytic defects of the phalanges of the hand, Overlapping fingers, Partial fusion of carpals, Partial fusion of tarsals, Patellar dislocation, Patent ductus arteriosus, Pectus excavatum, Periventricular heterotopia, Persistence of primary teeth, Pes planus, Pierre-Robin sequence, Platyspondyly, Pointed chin, Postaxial hand polydactyly, Posterior vertebral hypoplasia, Posteriorly rotated ears, Preaxial polydactyly, Prominent forehead, Prominent occiput, Prominent supraorbital ridges, Proptosis, Proximal placement of thumb, Ptosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Pyloric stenosis, Radial bowing, Radial deviation of the 2nd finger, Recurrent infections, Recurrent otitis media, Recurrent respiratory infections, Respiratory insufficiency, Rocker bottom foot, Rudimentary fibula, Sandal gap, Scapular winging, Sclerosis of skull base, Scoliosis, Seizure, Selective tooth agenesis, Sensorineural hearing impairment, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metacarpal, Short chin, Short chordae tendineae of the mitral valve, Short chordae tendineae of the tricuspid valve, Short clavicles, Short distal phalanx of finger, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short hallux, Short humerus, Short metacarpal, Short metatarsal, Short nose, Short palm, Short ribs, Short stature, Short thorax, Short thumb, Short toe, Shoulder dislocation, Skeletal dysplasia, Skeletal muscle atrophy, Small face, Smooth philtrum, Spastic diplegia, Spondylolysis, Strabismus, Stridor, Stroke, Subglottic stenosis, Syndactyly, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Telecanthus, Thick skull base, Thick vermilion border, Thickened calvaria, Thin skin, Thrombocytopenia, Tibial bowing, Toe clinodactyly, Toe syndactyly, Tooth agenesis, Tooth malposition, Tracheal stenosis, Tricuspid regurgitation, Tricuspid valve prolapse, Ulnar bowing, Ulnar deviation of finger, Umbilical hernia, Undulate clavicles, Ureteral obstruction, Ureteral stenosis, Urethral stenosis, Vertical clivus, Vesicoureteral reflux, Vomiting, Wide anterior fontanel, Wide nasal bridge, Wormian bones, Wrist flexion contracture, obsolete Abnormality of the metacarpal bones, obsolete Hypotrichosis, obsolete Joint hyperflexibility, obsolete Joint laxity

abnormal vascular regression, abnormal xiphoid process morphology, behavior/neurological phenotype, decreased heart right ventricle size, dilated heart, failure of palatal shelf elevation, irregularly shaped pupil, lethality throughout fetal growth and development, complete penetrance, lethality throughout fetal growth and development, incomplete penetrance, neonatal lethality, complete penetrance, no abnormal phenotype detected, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, preweaning lethality, incomplete penetrance, reduced female fertility, thick mitral valve