Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Microphthalmia/Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... |
OMIM:616201 |
Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract |
OMIM:618660 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... |
OMIM:614049 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter |
OMIM:615770 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... |
OMIM:163800 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iri... |
OMIM:106210 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... |
ORPHA:231736 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... |
OMIM:611493 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... |
OMIM:612124 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
Aniridia 2 |
|
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... |
OMIM:607554 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
Tako-Tsubo Cardiomyopathy |
|
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... |
ORPHA:66529 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... |
OMIM:602482 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Bradycardia |
OMIM:620265 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea |
OMIM:615877 |
Coats Disease |
|
Cataract, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... |
OMIM:615745 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... |
OMIM:115000 |
Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... |
OMIM:615373 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... |
OMIM:221900 |
Familial Progressive Cardiac Conduction Defect |
|
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block |
ORPHA:871 |
Coats Disease |
|
Leukocoria, Exudative retinal detachment |
OMIM:300216 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... |
OMIM:180500 |
Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
Microphthalmia/Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma |
OMIM:614497 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... |
OMIM:613838 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
Cataract 21, Multiple Types |
|
Microcornea, Peters anomaly, Cortical pulverulent cataract, Cerulean cataract, Retinal detachment... |
OMIM:610202 |
Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
Norrie Disease |
|
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... |
OMIM:310600 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Abnormality of retinal pigmentation, Retinal atrophy, Coloboma, Corneal opacity... |
ORPHA:85167 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Cataract, Astigmatism, Ectopia pupillae |
OMIM:618727 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... |
OMIM:614954 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval |
ORPHA:542306 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Persistent Hyperplastic Primary Vitreous |
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Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... |
ORPHA:91495 |
Facial Spasm |
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Anisocoria |
OMIM:134300 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
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Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Galactosemia Iv |
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Cataract |
OMIM:618881 |
Wagner Vitreoretinopathy |
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Peripheral tractional retinal detachment, Optic atrophy, Cataract, Chorioretinal atrophy, Retinal... |
OMIM:143200 |
Retinitis Pigmentosa 40 |
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Cataract, Bone spicule pigmentation of the retina |
OMIM:613801 |
Cardiomyopathy, Familial Hypertrophic, 1 |
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Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Distal Deletion 6P |
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Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... |
ORPHA:96125 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Microcoria, Congenital |
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Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
Cardiomyopathy, Familial Hypertrophic, 10 |
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Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Aminoacylase 1 Deficiency |
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Bradycardia |
OMIM:609924 |
Cataract 11, Multiple Types |
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Cataract, Developmental cataract |
OMIM:610623 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
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Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Idiopathic Neonatal Atrial Flutter |
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Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
Deafness, Autosomal Recessive 108 |
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Iris coloboma |
OMIM:617654 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
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Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation |
OMIM:612956 |
Anterior Segment Dysgenesis 7 |
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Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Cardiomyopathy, Dilated, 1Nn |
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Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
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Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia |
OMIM:618235 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Lattice retinal degeneration, Cataract, Lens subluxation, Retinal detachment |
OMIM:614292 |
Woolly Hair |
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Cataract, Abnormal pupil morphology |
ORPHA:170 |
Cataract 47 |
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Cataract, Microcornea |
OMIM:612018 |
Retinitis Pigmentosa 84 |
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Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy |
OMIM:618220 |
Leber Congenital Amaurosis 8 |
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Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... |
OMIM:613835 |
Multifocal Atrial Tachycardia |
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Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... |
ORPHA:1473 |
Uveal Melanoma |
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Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Retinal detachment, Z... |
ORPHA:39044 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
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Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Cardiomyopathy, Dilated, 1Ii |
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Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
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Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
Anterior Segment Dysgenesis 2 |
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Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... |
OMIM:610256 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Optic disc coloboma, Ectopia pupillae, Retinal atrophy, Corneal opacity, Macular atrophy, Lens su... |
OMIM:608940 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
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Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Autosomal Dominant Keratitis |
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Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Cataract 10, Multiple Types |
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Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
Aniridia 3 |
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Cataract, Aniridia |
OMIM:617142 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Chromosome 16Q12 Duplication Syndrome |
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Cataract, Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Sinus Node Disease And Myopia |
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Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Fuchs Heterochromic Iridocyclitis |
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Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... |
ORPHA:263479 |
Retinitis Pigmentosa 9 |
|
Cataract, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:180104 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
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Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
Vitreoretinal Degeneration, Snowflake Type |
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Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Corneal opacity |
ORPHA:90654 |
Cardiomyopathy, Familial Hypertrophic, 11 |
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Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
Cardiomyopathy, Familial Hypertrophic, 8 |
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Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... |
OMIM:608751 |
Brugada Syndrome 5 |
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Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Isolated Aniridia |
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Cataract, Aniridia, Peters anomaly |
ORPHA:250923 |
Cataract 1, Multiple Types |
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Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
Atrial Tachyarrhythmia With Short Pr Interval |
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Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
Leukoencephalopathy With Vanishing White Matter 2 |
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Optic atrophy, Cataract |
OMIM:620312 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
Cataract 14, Multiple Types |
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Zonular cataract |
OMIM:601885 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Morm Syndrome |
|
Cataract, Retinal atrophy |
ORPHA:75858 |
X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism |
ORPHA:54 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... |
OMIM:212138 |
Glycogen Storage Disease Xv |
|
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... |
OMIM:613507 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
Coloboma, Ocular, Autosomal Recessive |
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Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Morning Glory Disc Anomaly |
|
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:613731 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Timothy Syndrome |
|
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... |
OMIM:601005 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Ectopia pupillae, Hypoplasia of the iris, Peripapillary atrophy, Astigmatism, Cornea... |
OMIM:175780 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Phacoanaphylactic Uveitis |
|
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... |
ORPHA:209959 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Syncope, Shortened QT interval |
OMIM:611876 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia, Ectopia pupillae |
OMIM:618223 |
Microphthalmia, Isolated 5 |
|
Cataract, Optic disc drusen, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal ... |
OMIM:611040 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Microphthalmia/Coloboma 12 |
|
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... |
OMIM:120200 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... |
OMIM:613873 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... |
OMIM:212550 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Thrombocytopenia |
ORPHA:67048 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
2Q24 Microdeletion Syndrome |
|
Cataract, Coloboma, Abnormality iris morphology |
ORPHA:1617 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope |
OMIM:192445 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia |
OMIM:610015 |
Cone-Rod Dystrophy 16 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:614500 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... |
OMIM:261740 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Proteus-Like Syndrome |
|
Cataract, Thymus hyperplasia, Abnormal pupil morphology, Splenomegaly, Heterochromia iridis, Reti... |
ORPHA:2969 |
Stickler Syndrome, Type V |
|
Cataract, Retinal detachment |
OMIM:614284 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia |
ORPHA:171844 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Pigmentary retinopathy, Keratoconus, Cataract |
OMIM:204100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
Nephronophthisis 11 |
|
Anemia, Anisocoria, Retinal degeneration |
OMIM:613550 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Retinal detachment |
OMIM:219250 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Cardiomyopathy, Bradycardia |
OMIM:232500 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Short Syndrome |
|
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... |
ORPHA:3163 |
Birdshot Chorioretinopathy |
|
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Abnormal choroid morph... |
ORPHA:179 |
Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dysplasia, Optic... |
OMIM:251270 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... |
ORPHA:216694 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract |
ORPHA:65 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract, Choroideremia |
OMIM:116600 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
Ebstein Anomaly |
|
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... |
OMIM:224700 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... |
OMIM:613195 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Congenital Rubella Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iris, Thro... |
ORPHA:290 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... |
OMIM:609049 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Cataract, Retinal coloboma |
OMIM:601794 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Neonatal death, Bradycardia |
OMIM:620351 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Iris coloboma, Ectopia pupillae |
OMIM:194190 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Nuclear cataract, Tractional retinal detachment, Chorioretinal atrophy, Retinal detachm... |
OMIM:616468 |
Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Persistent fetal circulation, Bradycardia |
OMIM:618775 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Retinal coloboma |
ORPHA:363741 |
Retinitis Pigmentosa 2 |
|
Cataract, Pigmentary retinopathy, Chorioretinal degeneration |
OMIM:312600 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Congenital Primary Aphakia |
|
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... |
ORPHA:83461 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal degeneration, Chorioretinal ... |
ORPHA:414 |
Cataract 20, Multiple Types |
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Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Familial Dysautonomia |
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Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion |
ORPHA:1764 |
Mowat-Wilson Syndrome |
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Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Iris coloboma |
OMIM:235730 |
Coronary Arterial Fistula |
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Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia |
OMIM:613327 |
Cataract 30, Multiple Types |
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Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Peripartum Cardiomyopathy |
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Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
Trisomy 9P |
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Abnormal pupil morphology |
ORPHA:236 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Tachycardia |
OMIM:221400 |
Oculoauricular Syndrome |
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Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... |
OMIM:612109 |
Congenital Disorder Of Glycosylation, Type Im |
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Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Kyrle Disease |
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Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
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Posterior subcapsular cataract |
OMIM:616279 |
Late-Onset Retinal Degeneration |
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Choroidal neovascularization, Macular degeneration, Abnormal anterior eye segment morphology, Per... |
ORPHA:67042 |
Necrotizing Enterocolitis |
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Shock, Hypotension, Bradycardia |
ORPHA:391673 |
Cataract 15, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Malignant Hyperthermia, Susceptibility To, 5 |
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Tachycardia |
OMIM:601887 |
D-Glyceric Aciduria |
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Bradycardia |
OMIM:220120 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Tachycardia, Palpitations |
OMIM:188580 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
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Anisocoria |
ORPHA:289483 |
Dehydrated Hereditary Stomatocytosis |
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Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Bradycardia |
ORPHA:565624 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Revesz Syndrome |
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Aplastic anemia, Megalocornea, Macrocytic anemia, Leukocoria, Neutropenia |
OMIM:268130 |
Duane Retraction Syndrome |
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Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... |
ORPHA:233 |
Alagille Syndrome |
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Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Optic atrophy, Cataract, Microcornea, Retinal coloboma, Ectopia pupillae, Abnormal pupil morpholo... |
ORPHA:261552 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia |
OMIM:614653 |
Retinitis Pigmentosa 97 |
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Macular degeneration, Iris atrophy |
OMIM:620422 |
Congenital Fibrosis Of Extraocular Muscles |
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Cataract, Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia |
ORPHA:45358 |
Cataract 40 |
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Nuclear cataract, Sutural cataract |
OMIM:302200 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Mydriasis |
OMIM:619365 |
Microphthalmia With Brain And Digit Anomalies |
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Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma |
ORPHA:139471 |
Knobloch Syndrome 1 |
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Band keratopathy, Peripapillary atrophy, Chorioretinal atrophy, Retinal detachment, Cortical cata... |
OMIM:267750 |
Sepsis In Premature Infants |
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Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Encephalitis Lethargica |
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Bradycardia |
ORPHA:83600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Cataract, Persistent pupillary membrane, Peters anomaly, Buphthalmos |
OMIM:613150 |
Neuroleptic Malignant Syndrome |
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Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... |
ORPHA:94093 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Cataract, Microcornea, Persistent pupillary membrane |
OMIM:257850 |
Norrie Disease |
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Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin... |
ORPHA:649 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Optic atrophy, Anisocoria |
OMIM:231550 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Iris transillumination defect, Cataract, Microcornea, Coloboma |
OMIM:617306 |
Intestinal Botulism |
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Mydriasis |
ORPHA:178481 |
Juvenile Glaucoma |
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Abnormality iris morphology, Abnormal anterior chamber morphology, Increased cup-to-disc ratio, O... |
ORPHA:98977 |
Toxin-Mediated Infectious Botulism |
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Mydriasis |
ORPHA:230800 |
Cataract 32, Multiple Types |
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Anterior polar cataract |
OMIM:115650 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest |
OMIM:277400 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Bradycardia |
ORPHA:90673 |
Osteopetrosis, Autosomal Recessive 5 |
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Optic atrophy, Mydriasis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocy... |
OMIM:259720 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
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Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
Lujo Hemorrhagic Fever |
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Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage |
ORPHA:319213 |
Retinoblastoma |
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Hypopyon, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Heteroch... |
ORPHA:790 |
Miller Fisher Syndrome |
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Mydriasis, Anisocoria |
ORPHA:98919 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
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Mydriasis |
ORPHA:247815 |
Retinoblastoma |
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Leukemia, Retinal calcification, Leukocoria |
OMIM:180200 |
Complete Atrioventricular Septal Defect |
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Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... |
ORPHA:1329 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Tachycardia, Congestive heart failure |
ORPHA:90037 |
Charcot-Marie-Tooth Disease Type 1E |
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Abnormal pupil morphology, Anisocoria |
ORPHA:90658 |
Proximal Spinal Muscular Atrophy |
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Bradycardia |
ORPHA:70 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
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Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia |
OMIM:261990 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
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Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Iatrogenic Botulism |
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Mydriasis |
ORPHA:254509 |
Crimean-Congo Hemorrhagic Fever |
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Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... |
ORPHA:99827 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Cataract, Decreased proportion of class-switched memory B cells, Corneal erosion |
OMIM:614878 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... |
OMIM:614643 |
Wound Botulism |
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Mydriasis |
ORPHA:178475 |
Sheehan Syndrome |
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Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Alport Syndrome 2, Autosomal Recessive |
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Anterior lenticonus, Corneal erosion, Cataract |
OMIM:203780 |
Cardiomyopathy, Dilated, 1S |
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Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... |
OMIM:613426 |
Trichinellosis |
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Conjunctival hyperemia, Anisocoria, Retinal hemorrhage, Conjunctivitis, Abnormal uvea morphology |
ORPHA:863 |
Inhalational Botulism |
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Mydriasis |
ORPHA:254504 |
Microphthalmia, Syndromic 5 |
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Cataract, Microcornea, Coloboma, Optic nerve hypoplasia |
OMIM:610125 |
Intermediate Uveitis |
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Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Macular scar, Anterior u... |
ORPHA:279914 |
Atelis Syndrome 2 |
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Anemia, Developmental cataract, Thrombocytopenia, Remnants of the hyaloid vascular system |
OMIM:620185 |
Enhanced S-Cone Syndrome |
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Cataract, Pigmentary retinopathy |
OMIM:268100 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Bradycardia |
ORPHA:90674 |
Oculocerebrorenal Syndrome Of Lowe |
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Lentiglobus, Cataract, Abnormal pupil morphology, Thrombocytopenia, Corneal opacity, Anemia, Buph... |
ORPHA:534 |
Botulism |
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Mydriasis |
ORPHA:1267 |
Combined Oxidative Phosphorylation Deficiency 39 |
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Sinus bradycardia |
OMIM:618397 |
Foodborne Botulism |
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Mydriasis |
ORPHA:228371 |
3-Methylglutaconic Aciduria, Type Viii |
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Neonatal death, Bradycardia |
OMIM:617248 |
Scalp-Ear-Nipple Syndrome |
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Cataract, Anisocoria, Iris coloboma, Developmental cataract |
OMIM:181270 |
Infant Botulism |
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Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
Marburg Hemorrhagic Fever |
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Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... |
ORPHA:99826 |
Traboulsi Syndrome |
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Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... |
OMIM:601552 |
Charcot-Marie-Tooth Disease Type 4C |
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Optic atrophy, Anisocoria |
ORPHA:99949 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Anisocoria |
OMIM:615510 |
Yellow Fever |
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Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... |
ORPHA:99829 |
Cutis Marmorata Telangiectatica Congenita |
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Leukocoria, Retinal detachment |
ORPHA:1556 |
Bohring-Opitz Syndrome |
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Bradycardia |
ORPHA:97297 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Tricuspid regurgitation, Neonatal death, Pulmonary arterial hypertension, Bradycardia, Pulmonary ... |
OMIM:614437 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Bradycardia |
OMIM:218700 |
Sympathetic Ophthalmia |
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Posterior uveitis, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber,... |
ORPHA:79098 |
Pituitary Apoplexy |
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Mydriasis, Normochromic anemia |
ORPHA:95613 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Bradycardia |
ORPHA:226307 |
Serotonin Syndrome |
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Mydriasis |
ORPHA:43116 |
Bickerstaff Brainstem Encephalitis |
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Mydriasis, Anisocoria |
ORPHA:79138 |
Superficial Siderosis |
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Anisocoria |
ORPHA:247245 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Anisocoria |
OMIM:618653 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... |
ORPHA:91500 |
Neuroocular Syndrome 1 |
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Cataract, Microcornea, Peters anomaly, Blue irides, Remnants of the hyaloid vascular system, Stel... |
OMIM:619539 |
Smooth Muscle Dysfunction Syndrome |
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Mydriasis |
OMIM:613834 |
Full Nf2-Related Schwannomatosis |
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Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system |
ORPHA:637 |
Craniotubular Dysplasia, Ikegawa Type |
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Optic atrophy, Mydriasis, Optic nerve compression, Optic neuropathy |
OMIM:619727 |
Arachnoid Cyst |
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Mydriasis |
ORPHA:2356 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Sinus bradycardia |
OMIM:619482 |
Alternating Hemiplegia Of Childhood |
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Mydriasis |
ORPHA:2131 |
Witteveen-Kolk Syndrome |
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Cataract, Anisocoria, Iris coloboma |
OMIM:613406 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Mydriasis |
OMIM:619351 |
Microphthalmia, Syndromic 2 |
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Microcornea, Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract,... |
OMIM:300166 |
Sponastrime Dysplasia |
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Cataract, Microcoria, Neutropenia, Congenital aphakia |
ORPHA:93357 |
Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
Holoprosencephaly 2 |
|