Human (176 sources):
Abnormal nasal morphology,
Abnormal oral mucosa morphology,
Abnormal renal tubule morphology,
Abnormal thorax morphology,
Abnormality of pelvic girdle bone morphology,
Abnormality of subcutaneous fat tissue,
Abnormality of the gingiva,
Abnormality of the nervous system,
Abnormality of the tongue,
Absent ossification of calvaria,
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,
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,
Eczematoid dermatitis,
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 Beaded ribs,
obsolete Joint hyperflexibility,
obsolete Joint laxity
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