| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... |
OMIM:615184 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... |
ORPHA:542306 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:860 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... |
ORPHA:263297 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Decreased corneal t... |
OMIM:229200 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... |
ORPHA:1329 |
| Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Keratoconus, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
| Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276556 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect |
OMIM:613870 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276575 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276580 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Developmental cataract, Left ventricular hypertrophy, Internal hemorrhage, Right ven... |
ORPHA:335 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prematu... |
OMIM:212138 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:616570 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly |
ORPHA:2432 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Growth delay, Pallor |
OMIM:613561 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Developmental cataract, Abnormal left v... |
OMIM:540000 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... |
OMIM:115197 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Pallor |
OMIM:615631 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... |
ORPHA:57777 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
| Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Corneal scarring, Mitral valve prolapse, Keratoglobus, Pulmon... |
ORPHA:90354 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Premature... |
OMIM:602668 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
| Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal heart morphology |
ORPHA:79264 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature |
ORPHA:2528 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616171 |
| Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... |
OMIM:300952 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| 16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Cofs Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1466 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelithiasis, Intrauterine growth ... |
OMIM:266200 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Microphthalmia, Intrauterine growth retard... |
ORPHA:858 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:848 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia |
OMIM:619737 |
| Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Tularemia |
|
Tachycardia, Conjunctivitis, Conjunctival hyperemia |
ORPHA:3392 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Cat-Eye Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Developmental cataract, Episodic hype... |
OMIM:171300 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Growth delay, Microphthalmia |
OMIM:274270 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:278780 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Pallor, Microphthalmia, Intrauterine growth retardation |
OMIM:609053 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Corneal scarring, Hypertension, Brady... |
OMIM:614653 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
| Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:2117 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| 2Q24 Microdeletion Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:1617 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalm... |
ORPHA:290 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Cataract |
OMIM:618321 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
| Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
| Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... |
OMIM:614921 |
| Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:48431 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Keratoglobus, Astigmatism |
OMIM:108145 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia |
OMIM:615524 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Intrauterine gr... |
OMIM:603194 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
| Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Short stature, Delayed puberty |
ORPHA:141333 |
| Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Cardiomyocyte mitochondrial proliferation, Ventricular tach... |
ORPHA:423 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:163596 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor, Hepatosplenomegaly |
OMIM:611590 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Pierpont Syndrome |
|
Microphthalmia, Excessive wrinkling of palmar skin |
ORPHA:487825 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypertension, Recurrent corneal erosions, Corneal ulceration |
OMIM:223900 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature |
OMIM:300915 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... |
OMIM:616878 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature |
OMIM:610023 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia |
OMIM:613885 |
| High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Intrauterine gr... |
OMIM:611134 |
| Dominant Beta-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, Hepatosplenomegaly, Growth ... |
ORPHA:231226 |
| Fanconi Anemia, Complementation Group G |
|
Growth delay, Microphthalmia |
OMIM:614082 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Myocarditis, Congestive heart f... |
ORPHA:466677 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST... |
OMIM:261740 |
| Pierpont Syndrome |
|
Microphthalmia, Short stature |
OMIM:602342 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension, Mydriasis |
ORPHA:43116 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microphthalmia, Hepati... |
OMIM:618805 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Hepatomegaly |
OMIM:613730 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3226 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:600118 |
| Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:75564 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Growth delay, Neonatal death, Microphthalmia, Intrauterine growth retarda... |
ORPHA:85284 |
| Microtriplication 11Q24.1 |
|
Keratoconus |
ORPHA:289522 |
| Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Ventricular septal defect, Corneal dystrophy, Abnormal p... |
ORPHA:52 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Bile duct proliferation, Anencephaly |
OMIM:611561 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Abnormal heart morphology, Mitral... |
ORPHA:505248 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Growth delay, Pallor, Cholelithiasis |
ORPHA:822 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, Growth delay... |
ORPHA:231214 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Premature skin wrinkling |
OMIM:601349 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Costello Syndrome |
|
Keratoconus, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... |
ORPHA:3071 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia |
OMIM:613327 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness |
ORPHA:293967 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Short stature |
OMIM:251270 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microphthalmia, Dry skin, Cutis laxa |
OMIM:612379 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
| American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3386 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Cong... |
ORPHA:3342 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:610756 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
| Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia |
OMIM:308350 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Pallor, Elevated hepatic iron co... |
ORPHA:300298 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short stature |
OMIM:300887 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation |
OMIM:300863 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Biliary tract abnormality, Short stature |
ORPHA:3191 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Abnormal left ventricular function, Conjunctivitis, Ventricular ... |
ORPHA:36913 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
ORPHA:228390 |
| Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Keratoconus, Hypertension, Astigmatism, Ischemic s... |
OMIM:208050 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1438 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Rhizomelia |
ORPHA:93267 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Internal hemorrhage, Per... |
ORPHA:99827 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Car... |
ORPHA:99125 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Pallor |
ORPHA:98870 |
| Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann... |
ORPHA:2470 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Short stature |
OMIM:614583 |
| Porphyria Variegata |
|
Hypertension, Tachycardia |
ORPHA:79473 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Junctional ectopic tachycard... |
OMIM:309801 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... |
ORPHA:94093 |
| Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
| Joubert Syndrome 37 |
|
Microphthalmia, Short stature, Hepatomegaly |
OMIM:619185 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
| Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:3378 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Short stature |
ORPHA:2788 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation |
ORPHA:163966 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
| Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus |
ORPHA:401777 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... |
ORPHA:85194 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
| Seckel Syndrome 2 |
|
Growth delay, Microphthalmia, Short stature |
OMIM:606744 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia |
OMIM:614833 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
| Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:494344 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Short stature, Unilateral microphthalmos |
OMIM:619318 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia... |
ORPHA:404443 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:618804 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta, Short stature |
OMIM:169550 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Redundant neck skin |
OMIM:618652 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly |
ORPHA:2189 |
| Graft Versus Host Disease |
|
Tachycardia |
ORPHA:39812 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Short stature |
ORPHA:2505 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia |
ORPHA:370959 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Short stature, Erythema, Pallor, Microphthalmia |
OMIM:308300 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
| Ogden Syndrome |
|
Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal... |
OMIM:300855 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos, Short stature |
ORPHA:369891 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Short stature |
ORPHA:1791 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Waldenström Macroglobulinemia |
|
Splenomegaly, Hepatomegaly, Pallor, Purpura |
ORPHA:33226 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:98853 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... |
ORPHA:98855 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Premature skin wrinkling |
ORPHA:1942 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Adams-Oliver Syndrome |
|
Encephalocele, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Microphthalmia |
ORPHA:974 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:134 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... |
OMIM:557000 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis |
OMIM:242150 |
| Joubert Syndrome 14 |
|
Encephalocele, Microphthalmia, Meningocele, Growth delay |
OMIM:614424 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1915 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... |
ORPHA:98863 |
| Refsum Disease |
|
Splenomegaly, Microphthalmia, Dry skin |
ORPHA:773 |
| Baraitser-Winter Syndrome 1 |
|
Postnatal growth retardation, Microphthalmia, Short stature |
OMIM:243310 |
| Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Tachycardia, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
| Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
| Monosomy 18P |
|
Microphthalmia, Short stature |
ORPHA:1598 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Unilateral microphthalmos |
OMIM:615085 |
| Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Anemic pallor, Short stature, Intrauterine growth retardation |
OMIM:227645 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Developmental glaucoma |
ORPHA:1772 |
| Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
| Acute Intermittent Porphyria |
|
Hypertension, Tachycardia |
ORPHA:79276 |
| Warburg-Cinotti Syndrome |
|
Limbal stem cell deficiency, Corneal neovascularization, Decreased corneal thickness, Symblepharon |
OMIM:618175 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Marden-Walker Syndrome |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
OMIM:248700 |
| Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Gracile Bone Dysplasia |
|
Short stature, Asplenia, Aniridia, Microphthalmia, Hypoplastic spleen |
OMIM:602361 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Short stature, Skin ulcer |
ORPHA:1806 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Short stature |
OMIM:617883 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Pallor |
ORPHA:29072 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Pallor |
OMIM:606812 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Microphthalmia, Short stature, Scaling skin |
ORPHA:35173 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
| Mosaic Trisomy 9 |
|
Spina bifida, Asplenia, Abnormal liver lobulation, Microphthalmia, Intrauterine growth retardation |
ORPHA:99776 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hepatomegaly |
OMIM:619053 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation |
OMIM:241410 |
| Warburg Micro Syndrome 4 |
|
Severe postnatal growth retardation, Microphthalmia, Short stature |
OMIM:615663 |
| Micro Syndrome |
|
Microphthalmia, Short stature, Delayed puberty, Intrauterine growth retardation |
ORPHA:2510 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation |
ORPHA:2728 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Cataract, Dilated cardiomyopathy, Reduced left ventricular ejection fraction... |
ORPHA:254892 |
| Angelman Syndrome |
|
Keratoconus, Astigmatism, Iris hypopigmentation |
ORPHA:72 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Anemic pallor, Short stature |
OMIM:600901 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
| Microphthalmia With Limb Anomalies |
|
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation |
OMIM:206920 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Short stature |
OMIM:610758 |
| Scalp-Ear-Nipple Syndrome |
|
Cataract, Cardiac myxoma, Congestive heart failure, Developmental cataract, Anisocoria, Hypertens... |
OMIM:181270 |
| Plague |
|
Tachycardia, Mydriasis, Hematemesis, Endocarditis, Hypotension, Arrhythmia, Conjunctival hyperemia |
ORPHA:707 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Cholangitis, Splenomegaly, Chronic hepatitis, Hepatosplenomegaly, ... |
ORPHA:3260 |
| Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
| Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Anemic pallor, Short stature |
OMIM:227650 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
| Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia, Biliary atresia, Short stature |
OMIM:115470 |
| Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
| Degcags Syndrome |
|
Tachycardia, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Pulmonary arteri... |
OMIM:619488 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Spina bifida, Erythema, Hypoplasia of the iris, Umbilical hernia, Micropht... |
ORPHA:2092 |
| Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
| Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Intrauterine growth retardation |
OMIM:613451 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Microcephaly-Micromelia Syndrome |
|
Neonatal death, Microphthalmia, Intrauterine growth retardation |
OMIM:251230 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature |
OMIM:147250 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Incontinentia Pigmenti |
|
Short stature, Erythema, Skin ulcer, Umbilical hernia, Microphthalmia, Spina bifida occulta |
ORPHA:464 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microphthalmia, Anencephaly, Short stature |
OMIM:619148 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Gapo Syndrome |
|
Keratoconus |
ORPHA:2067 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
| Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Heart And Brain Malformation Syndrome |
|
Growth delay, Microphthalmia |
OMIM:616920 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Microphthalmia, Anophthalmia |
ORPHA:77298 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:1352 |
| Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614222 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... |
ORPHA:280365 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation |
ORPHA:2399 |
| Meckel Syndrome |
|
Encephalocele, Accessory spleen, Anophthalmia, Pancreatic fibrosis, Asplenia, Congenital hepatic ... |
ORPHA:564 |
| Meckel Syndrome 14 |
|
Microphthalmia, Occipital encephalocele, Hepatic fibrosis |
OMIM:619879 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| Diamond-Blackfan Anemia 1 |
|
Intrauterine growth retardation, Spina bifida occulta, Short stature, Pallor |
OMIM:105650 |
| Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon... |
ORPHA:2839 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Annular pancreas, Anemic pallor, Short stature |
OMIM:227646 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:244300 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Dry skin, Short stature |
OMIM:601675 |
| Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Short stature |
OMIM:617306 |
| Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar... |
ORPHA:3380 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Short stature |
OMIM:612530 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Sev... |
OMIM:620005 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Short stature, Severe short stature, Bilateral microphthalmos, Multilobulated splee... |
OMIM:601186 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
| Cohen Syndrome |
|
Microphthalmia, Short stature, Delayed puberty, Intrauterine growth retardation |
ORPHA:193 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Gapo Syndrome |
|
Keratoconus, Shallow anterior chamber, Megalocornea |
OMIM:230740 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Keratoconus, Congestive heart failure, Arterial rupture, Microcornea |
OMIM:225400 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Microphthalmia |
OMIM:234050 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele |
OMIM:613150 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Dry skin, Proportionate short stature, Spina bifida |
OMIM:234100 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
| Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia |
OMIM:617244 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Short stature |
OMIM:618571 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, La... |
OMIM:249000 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:617729 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
| Ritscher-Schinzel Syndrome 3 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:619135 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hepatomegaly, Growth delay, Pallor |
ORPHA:667 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
| Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:603467 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia |
OMIM:253800 |
| Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
| Martsolf Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:212720 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Pallor |
OMIM:253280 |
| Esophageal Atresia |
|
Growth delay, Pallor |
ORPHA:1199 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microphthalmia, Stillbirth, Rhizomelia |
OMIM:616300 |
| Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia |
OMIM:608091 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:251300 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia |
OMIM:264480 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Microphthalmia |
OMIM:614225 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
| Cousin Syndrome |
|
Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia |
OMIM:260660 |
| Cockayne Syndrome B |
|
Hepatomegaly, Severe short stature, Postnatal growth retardation, Splenomegaly, Hypoplasia of the... |
OMIM:133540 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:250989 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Postnatal growth retardation, Microphthalmia, Rhizomelia |
OMIM:302960 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Umbilical hernia |
ORPHA:77301 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia, Short stature |
OMIM:257850 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia |
OMIM:236670 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature |
OMIM:257910 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:2714 |
| Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
| Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
| Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, ... |
OMIM:256520 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Abnormality of the spleen, Spinal dysraphism, Branchial anomaly, Mic... |
ORPHA:2162 |
| Trichothiodystrophy |
|
Umbilical hernia, Bilateral microphthalmos, Dry skin, Intrauterine growth retardation |
ORPHA:33364 |
| Jacobsen Syndrome |
|
Microphthalmia, Annular pancreas, Macular hypoplasia, Intrauterine growth retardation |
OMIM:147791 |
| Stromme Syndrome |
|
Accessory spleen, Microphthalmia, Stillbirth, Optic nerve hypoplasia |
OMIM:243605 |
| Mosaic Trisomy 1 |
|
Microphthalmia, Hepatic agenesis |
ORPHA:1692 |
| Pallister-Hall Syndrome |
|
Neonatal death, Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:146510 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
| Fontaine Progeroid Syndrome |
|
Short stature, Redundant skin, Intrauterine growth retardation, Umbilical hernia, Neonatal death,... |
OMIM:612289 |
| Fanconi Anemia |
|
Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Growth delay, Abnormality of the liv... |
ORPHA:84 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microphthalmia, Umbilical hernia |
ORPHA:2166 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts |
ORPHA:892 |
| Dubowitz Syndrome |
|
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine... |
OMIM:223370 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor, Delayed puberty |
ORPHA:91347 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Microphthalmia, Lenz Type |
|
Microphthalmia, Short stature |
ORPHA:568 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
| 22Q11.2 Deletion Syndrome |
|
Short stature, Spina bifida, Splenomegaly, Meningocele, Occipital myelomeningocele, Umbilical her... |
ORPHA:567 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:364577 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Skin ulcer, Scaling skin, Microphthalmia, Dry skin |
ORPHA:2526 |
| Diamond-Blackfan Anemia |
|
Growth delay, Short stature, Pallor |
ORPHA:124 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Pancreatitis |
ORPHA:544482 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Cholelithiasis |
ORPHA:464738 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
| Legius Syndrome |
|
Cataract, Paroxysmal atrial tachycardia, Mitral valve prolapse, Pulmonic stenosis, Lisch nodules |
ORPHA:137605 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Microphthalmia |
OMIM:614230 |
| Sarcoidosis |
|
Abnormal cardiac ventricular function, Cataract, Portal hypertension, Heart block, Ventricular ta... |
ORPHA:797 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short stature, Optic nerve hypoplasia, Spina bifida, Microphthalmia, Exocrine pancreatic insuffic... |
ORPHA:508498 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... |
OMIM:206900 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Short stature |
OMIM:610651 |
| Aicardi Syndrome |
|
Hepatoblastoma, Microphthalmia, Postnatal growth retardation, Spina bifida |
OMIM:304050 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Papillorenal Syndrome |
|
Microphthalmia, Short stature |
OMIM:120330 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Spina bifida |
OMIM:109400 |
| Fanconi Anemia, Complementation Group L |
|
Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:614083 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Annular pancreas, Short stature, Intrauterine growth retardation |
OMIM:616975 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Severe short stature, Rhizomelia |
ORPHA:85167 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Dry skin, Intrauterine growth retardation |
OMIM:263650 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Growth delay, Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1052 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Skin ulcer, Buphthalmos, Umbilical hernia, Delayed puberty, Microphthalmia |
ORPHA:534 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Short stature, Prolonged neonatal jaundice, Microphthalmia, Intrauterine growth r... |
OMIM:620186 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Short stature |
ORPHA:251014 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Anophthalmia, Abnormality of the spleen, Growth delay, Microphthalmia |
ORPHA:2538 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Momo Syndrome |
|
Bilateral microphthalmos, Short stature |
ORPHA:2563 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Chromosome 13Q14 Deletion Syndrome |
|
Growth delay, Microphthalmia, Umbilical hernia |
OMIM:613884 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Severe short stature, Postnatal growth retardation, ... |
ORPHA:191 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia, Short stature |
OMIM:272950 |
| Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
| Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Annular pancreas, Short stature |
OMIM:268400 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Unilateral microphthalmos |
OMIM:618874 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Microphthalmia, Absent gallbladder |
OMIM:617925 |
| Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Mic... |
ORPHA:90324 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Abdominal situs inversus, Proportionate short stature |
ORPHA:2108 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Anencephaly, Stillbirth, Microphthalmia, Intrauterine growth retardation |
OMIM:236680 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,... |
OMIM:602535 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Monosomy 13Q14 |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
ORPHA:1587 |
| Acro-Renal-Ocular Syndrome |
|
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
| Aicardi Syndrome |
|
Hepatoblastoma, Microphthalmia, Delayed puberty |
ORPHA:50 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Short stature, Phthisis bulbi, Umbilical hernia, Microphthalmia |
OMIM:300166 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Myhre Syndrome |
|
Birth length less than 3rd percentile, Microphthalmia, Short stature, Intrauterine growth retarda... |
OMIM:139210 |
| Linear Nevus Sebaceus Syndrome |
|
Growth delay, Microphthalmia |
ORPHA:2612 |
| Roberts Syndrome |
|
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation |
ORPHA:3103 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... |
ORPHA:93325 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Short stature |
OMIM:201180 |
| Atelis Syndrome 2 |
|
Microphthalmia |
OMIM:620185 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Microphthalmia, Stillbirth, Polysplenia |
OMIM:229850 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Arterial rupture, ... |
OMIM:130050 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Severe short stature, Erythema, Growth delay, Microphthalmia |
ORPHA:2556 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Severe short stature, Short stature |
OMIM:127000 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo... |
ORPHA:468631 |
| Steinfeld Syndrome |
|
Microphthalmia, Absent gallbladder |
OMIM:184705 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
| Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
| Focal Dermal Hypoplasia |
|
Anophthalmia, Short stature, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina ... |
OMIM:305600 |
| Charge Syndrome |
|
Anophthalmia, Short stature, Postnatal growth retardation, Delayed puberty, Microphthalmia, Intra... |
ORPHA:138 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... |
OMIM:609049 |
| Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610829 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:608670 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia |
OMIM:619539 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Short stature, True anophthalmia |
ORPHA:1106 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Keratoconjunctivitis sicca, Arrhythmia |
ORPHA:285 |
| Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
| Mend Syndrome |
|
Microphthalmia, Short stature |
ORPHA:401973 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Short stature, Postnatal growth retardation, Bilateral microphthalmos, Micro... |
ORPHA:3472 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi, Short stature |
OMIM:259770 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B... |
ORPHA:508488 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Absent gallbladder |
ORPHA:3186 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal heart valve morphology, Telangiectasia of the skin, Transient ischemic atta... |
ORPHA:286 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Growth delay, Microphthalmia, Intrauterine growth retardation |
OMIM:613406 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Short stature |
OMIM:616734 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Postnatal growth retardation, Frontal encephalocele, Biliary tract abnormality,... |
OMIM:268300 |
| Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
| Charge Syndrome |
|
Anophthalmia, Postnatal growth retardation, Unilateral microphthalmos, Umbilical hernia, Delayed ... |
OMIM:214800 |
| Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation |
ORPHA:672 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt... |
OMIM:113620 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Palmoplantar erythema |
OMIM:612474 |
| Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
| Renpenning Syndrome 1 |
|
Microphthalmia, Short stature |
OMIM:309500 |
| Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia |
OMIM:273395 |
| Lowe Oculocerebrorenal Syndrome |
|
Postnatal growth retardation, Microphthalmia, Short stature |
OMIM:309000 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty |
ORPHA:649 |
| Holoprosencephaly 1 |
|
Microphthalmia, Short stature |
OMIM:236100 |
| Mowat-Wilson Syndrome |
|
Microphthalmia, Short stature |
OMIM:235730 |
| Townes-Brocks Syndrome |
|
Microphthalmia, Short stature, Delayed puberty |
ORPHA:857 |
| Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
| Craniofacial Microsomia 1 |
|
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly |
OMIM:164210 |
| Mowat-Wilson Syndrome |
|
Asplenia, Microphthalmia, Growth delay, Short stature |
ORPHA:2152 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Microphthalmia, Short stature |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Microphthalmia, Short stature |
ORPHA:261552 |
| Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Microphthalmia, Syndromic 1 |
|
Growth delay, Microphthalmia, Anophthalmia |
OMIM:309800 |
