Acrocyanosis, Aortic aneurysm, Aortic root aneurysm, Aphasia, Aplasia/Hypoplasia of the abdominal wall musculature, Arachnodactyly, Arterial dissection, Ascending tubular aorta aneurysm, Asthma, Atrial septal defect, Atrophic scars, Atypical scarring of skin, Avascular necrosis of the capital femoral epiphysis, Basilar impression, Beaded ribs, Behavioral abnormality, Biconcave flattened vertebrae, Biconcave vertebral bodies, Blue sclerae, Bowel diverticulosis, Bowing of limbs due to multiple fractures, Bowing of the legs, Breech presentation, Broad long bones, Bruising susceptibility, Cachexia, Calvarial hyperostosis, Cellulitis, Cigarette-paper scars, Cognitive impairment, Congenital bilateral hip dislocation, Congestive heart failure, Convex nasal ridge, Corneal dystrophy, Cortical irregularity, Cortical thickening of long bone diaphyses, Coxa valga, Coxa vara, Crumpled long bones, Decreased calvarial ossification, Delayed gross motor development, Dental malocclusion, Dentinogenesis imperfecta, Depressed nasal bridge, Disproportionate short-limb short stature, Dysphasia, Echolalia, Ectopia lentis, Eczema, Emphysema, Epicanthus, Erythema, Facial asymmetry, Fatigue, Feeding difficulties in infancy, Femoral bowing, Femoral bowing present at birth, straightening with time, Femoral hernia, Fever, Fragile skin, Frontal bossing, Generalized hypotonia, Genital hernia, Glaucoma, Growth abnormality, Hearing impairment, Hiatus hernia, High, narrow palate, Hip dislocation, Hip dysplasia, Hyperesthesia, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypoplasia of the ear cartilage, Hypotension, Hypotonia, Immunologic hypersensitivity, Increased circulating antibody level, Increased susceptibility to fractures, Infantile muscular hypotonia, Irregularly spaced teeth, Joint dislocation, Joint hypermobility, Joint stiffness, Joint subluxation, Keratoglobus, Kyphosis, Large fontanelles, Long thorax, Lop ear, Malar flattening, Malar prominence, Microcornea, Microdontia, Micrognathia, Midface retrusion, Migraine, Mild short stature, Mitral valve prolapse, Molluscoid pseudotumors, Multiple prenatal fractures, Muscle flaccidity, Muscle weakness, Mutism, Myalgia, Myopia, Narrow face, Narrow maxilla, Neonatal short-limb short stature, Nonimmune hydrops fetalis, Open bite, Osteoarthritis, Osteopenia, Otosclerosis, Papule, Pectus carinatum, Periosteal thickening of long tubular bones, Pes planus, Petechiae, Platybasia, Platyspondyly, Pneumothorax, Poor wound healing, Premature birth, Premature birth following premature rupture of fetal membranes, Premature osteoarthritis, Proptosis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary insufficiency, Recurrent fractures, Reduced bone mineral density, Reduced consciousness/confusion, Respiratory insufficiency, Retinal detachment, Retrognathia, Scarring, Scoliosis, Severe generalized osteoporosis, Severe short stature, Shagreen patch, Short stature, Slender long bone, Small for gestational age, Soft skin, Spina bifida occulta, Striae distensae, Subcutaneous spheroids, Thin skin, Tibial bowing, Tooth agenesis, Triangular face, Tricuspid valve prolapse, Umbilical hernia, Urticaria, Venous insufficiency, Wide anterior fontanel, Wide nasal bridge, Wormian bones, obsolete Joint hyperflexibility, obsolete Joint laxity

abnormal cutaneous collagen fibril morphology, abnormal dental pulp cavity morphology, abnormal dentin mineralization, abnormal dermal layer morphology, abnormal endoplasmic reticulum morphology, abnormal enzyme/coenzyme level, abnormal extracellular matrix morphology, abnormal fertility/fecundity, abnormal hormone level, abnormal ischium morphology, abnormal limb morphology, abnormal locomotor behavior, abnormal maxilla morphology, abnormal mechanical nociception, abnormal mitosis, abnormal mitotic spindle morphology, abnormal myocardium layer morphology, abnormal myometrium morphology, abnormal neurocranium morphology, abnormal olecranon morphology, abnormal osteoblast differentiation, abnormal osteoblast morphology, abnormal osteoblast physiology, abnormal osteoclast physiology, abnormal osteocyte lacuna morphology, abnormal osteocyte morphology, abnormal pubis morphology, abnormal tail movements, abnormal tendon collagen fibril morphology, abnormal thoracic cage shape, abnormal turbinate morphology, abnormal uterus morphology, abnormal vertebral body morphology, abnormal vertebral column morphology, aneuploidy, atlanto-occipital joint dislocation, cellular phenotype, chromosomal instability, decreased body length, decreased body size, decreased bone mass, decreased bone mineral content, decreased bone mineralization, decreased bone ossification, decreased bone strength, decreased bone trabecula number, decreased bone trabecular spacing, decreased bone volume, decreased circulating alkaline phosphatase level, decreased collagen level, decreased diameter of femur, decreased hydroxyproline level, decreased litter size, decreased locomotor activity, decreased percent body fat/body weight, decreased skin tensile strength, decreased susceptibility to injury, decreased tendon stiffness, decreased thermal nociceptive threshold, decreased trabecular bone thickness, decreased trabecular bone volume, decreased ventricle muscle contractility, decreased vertical activity, delayed bone ossification, digestive/alimentary phenotype, embryonic growth arrest, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, failure of bone resorption, focal hair loss, hearing/vestibular/ear phenotype, hindlimb paralysis, homeostasis/metabolism phenotype, increased QRS amplitude, increased bone trabecular spacing, increased circulating parathyroid hormone level, increased lung tumor incidence, increased osteoblast apoptosis, increased osteoblast cell number, increased osteocyte apoptosis, increased susceptibility to age-related hearing loss, increased tumor incidence, integument phenotype, joint contracture, lung hemorrhage, myocardium hypertrophy, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, ocular hypertension, osteophytes, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, preweaning lethality, incomplete penetrance, pulmonary alveolar hemorrhage, rib fractures, short vertebral body, skeleton phenotype, spinal hemorrhage, thick dermal layer, thick neurocranium, thin body, thin neurocranium, thin tail, vision/eye phenotype, weakness