|
The FBN1 mutations database - List of Phenotypic information |
| You can copy and paste these data into the search module. |
| Symptom | Severity |
|---|---|
| C-Aneurysm asc.aorta | |
| C-Aortic regurgitation (m/-) | moderate surgery |
| C-Aortic root aneurysm (m/-) | surgery |
| C-Aortic root dilation (M/M) | borderline slight surgery |
| C-Aortic root dissection (M/M) | |
| C-Aortic root replacement | |
| C-Aortic valve insufficiency | moderate severe surgery |
| C-Aortic valve prolapse | |
| C-Arhythmia | |
| C-Atrial septal defect | |
| C-Bicuspidy | |
| C-Bradycardy | |
| C-Cardiomegaly | |
| C-Congestive heart failure | |
| C-Coronary artery aneurysm | |
| C-Dilation asc. aorta (M/M) | borderline moderate severe surgery |
| C-Dilation desc. aorta (-/m) | |
| C-Dilation of atria | |
| C-Dilation pulmonary art. (-/m) | mild |
| C-Dissecting aneurysm | surgery |
| C-Dissection abdominal aorta (M/m) | |
| C-Dissection asc. aorta (M/M) | surgery |
| C-Dissection desc. Aorta (M/m) | surgery |
| C-Dysrythmia (m/-) | |
| C-Enlarged heart | |
| C-Incomplete description | |
| C-Mitral endocarditis | |
| C-Mitral regurgitation | borderline mild moderate severe |
| C-Mitral valve insufficiency | moderate severe surgery |
| C-Mitral valve prolapse (m/m) | mild surgery |
| C-Mixomatous mitral valve | |
| C-Multiple aneurysms | |
| C-Myocardial mass | |
| C-Pulmonary emphysema | |
| C-Pulmonary valve insufficiency | |
| C-Thoracic des. aorta neurysm | |
| C-Tricuspid regurgitation | mild |
| C-Tricuspid valve insufficiency | moderate |
| C-Tricuspid valve prolapse | moderate |
| C-Ventricular hypertrophy | |
| CNS-Dural ectasia (M/M) | suspected |
| CNS-Enlarged cisterna magna (m/-) | |
| CNS-Lombosacral meningocele (m/-) | |
| CNS-Mental retardation | |
| CNS-Verbal expression pb (m/-) | |
| CNS-Widening of the lumbosacral canal | |
| L-Apical blebs (m/m) | |
| L-hemidiaphragm eventration | |
| L-Pneumectomy | |
| L-Pulmonary emphysema | |
| L-Spontaneous pneumothorax (m/m) | bilateral |
| no clinical data | |
| O-Adhesion of iris with cornea | |
| O-Amblyopia | |
| O-Aphakia | bilateral |
| O-Asthigmatism | |
| O-Bluish sclerae | |
| O-Cataract | |
| O-Coloboma | |
| O-Congenital miosis | |
| O-Corneal detachment | |
| O-Divergent strabismus | |
| O-Ectopia lentis (M/M) | bilateral surgery |
| O-Flat cornea (<42 dp) (m/m) | bilateral slight |
| O-Glaucoma | |
| O-Incomplete description | |
| O-Increased axial length of globe (m/m) | |
| O-Iridodonesis | |
| O-Iris dilatator hypoplasia (-/m) | |
| O-Lens extraction | bilateral |
| O-Megalocornea | |
| O-Microphthalmus | |
| O-Microspherophakia | |
| O-Miosis | |
| O-Myopia (m/-) | early mild severe |
| O-No implication | |
| O-Not examined | |
| O-Peripheral iris atrophy | |
| O-Retinal ablation | |
| O-Retinal aplasia | bilateral |
| O-Retinal degeneration | bilateral |
| O-Retinal detachment (m/-) | bilateral surgery |
| O-Shallow anterior chambers | |
| O-Spherophakia | |
| O-Strabismus | |
| S-Abnormal ears | |
| S-Abnormal face | |
| S-Arachnodactyly (m/M) | borderline moderate severe |
| S-Arm span/height >1.05 (-/M) | |
| S-Camptodactyly | |
| S-Chest deformity (unspecified) (m/m) | |
| S-Chondromalacia Patellae | |
| S-Craniosynostosis | |
| S-Crumpled ears | |
| S-Cubitus valgus | |
| S-Dental crowding (m/m) | moderate |
| S-Dolichocephalia (-/m) | |
| S-Dolichostenomelia (m/-) | extreme moderate severe |
| S-Downward palpebral fissures (-/m) | |
| S-Enophthalmus (-/m) | |
| S-Flat feet | |
| S-Foot deformity | |
| S-Incomplete description | |
| S-Increased body length (m/-) | |
| S-Infantile hypotonia | |
| S-Joint contractures (m/-) | mild |
| S-Joint dislocation | |
| S-Joint hyper-mobility (m/m) | moderate |
| S-Knees dislocation | |
| S-Kyphosis (m/-) | |
| S-Leg deformity | |
| S-Long bone over growth | moderate |
| S-Lordosis (m/-) | severe |
| S-Malar hypoplasia (-/m) | |
| S-Micrognathia | |
| S-Muscular hypotonia | severe |
| S-Narrow palatal arch (m/m) | moderate surgery |
| S-Patella dislocation | |
| S-Pectus carinatum (m/M) | |
| S-Pectus excavatum moderate (m/m) | |
| S-Pectus excavatum severe (m/M) | surgery |
| S-Pes planovalgus | |
| S-Pes planus (-/M) | bilateral |
| S-Protusio acetabulæ (m/M) | bilateral |
| S-Reduced extension of the elbows (-/M) | |
| S-Repeating twists | |
| S-Retrognathia (-/m) | |
| S-Scoliosis (m/M) | mild severe surgery thoracic |
| S-Short stature | |
| S-US/LS ratio <0.87 (-/M) | |
| S-Valgus elbow | bilateral |
| SI-Bleeding tendency | |
| SI-Inguinal hernia (m/m) | bilateral |
| SI-Loose, redundant skin | |
| SI-Other herniae (m/m) | diaphragmatic Hiatal ombilical vertebral |
| SI-Skin hyperextensibility | |
| SI-Striae distensae (m/m) | |
| SI-Tendency to ecchymosis | |
| SI-Translucent skin | |
| SI-Varicose veins |