Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Spastic Paraplegia With Associated Extrapyramidal Signs |
|
Abnormality of extrapyramidal motor function, Spastic paraplegia |
OMIM:182800 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... |
OMIM:113900 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... |
OMIM:613694 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... |
OMIM:613697 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... |
OMIM:601493 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology |
ORPHA:111 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... |
OMIM:613838 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Joubert Syndrome 4 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... |
OMIM:609583 |
Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia |
ORPHA:1055 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... |
OMIM:115195 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular sclerosis, Glomerular sub... |
OMIM:614377 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... |
OMIM:619113 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Spast... |
OMIM:618598 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... |
OMIM:612098 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Thickened gl... |
OMIM:615862 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Exaggerated startle response, Myoclonus, Clonus |
OMIM:618201 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Increased mit... |
ORPHA:263297 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Wolff-Parkinson-White syndrome, Decreas... |
OMIM:618378 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Nephronophthisis, Chronic kidney disease |
ORPHA:3156 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... |
OMIM:224700 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Renal interstitial fibrosis, Hyperechogenic kidneys, Nephronophth... |
OMIM:616217 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
Hyperekplexia 2 |
|
Exaggerated startle response, Myoclonus, Hypertonia |
OMIM:614619 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Atrial Standstill 1 |
|
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... |
OMIM:108770 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis |
OMIM:614464 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... |
OMIM:618052 |
Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis |
OMIM:606995 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Stage ... |
OMIM:603860 |
Hyperekplexia 3 |
|
Exaggerated startle response, Myoclonus, Hypertonia |
OMIM:614618 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Left ventricular systolic dysfunction, Dilated cardiomyopathy |
ORPHA:206559 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG |
OMIM:300376 |
Hyperekplexia 1 |
|
Exaggerated startle response, Frequent falls, Myoclonus, Hypertonia |
OMIM:149400 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block |
OMIM:300695 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Spasticity, Exaggerated startle response |
OMIM:618367 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Dilated cardiomyopathy... |
OMIM:181350 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... |
ORPHA:90065 |
Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
Leukodystrophy, Hypomyelinating, 13 |
|
Spasticity, Exaggerated startle response, Ataxia, Hypertonia, Clonus, Lower limb spasticity |
OMIM:616881 |
Recessive Mitochondrial Ataxia Syndrome |
|
Dysphagia, ST segment elevation |
ORPHA:94125 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... |
ORPHA:309246 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Paralysis, Spastic tetraparesis, H... |
OMIM:272750 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Babinski sign, Exaggerated startle response, Ankle clonus, Spastic paraplegia |
OMIM:609541 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... |
OMIM:255160 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval |
OMIM:619040 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613550 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... |
ORPHA:99103 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... |
OMIM:619902 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613159 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Progressive spastic paraplegia, Abnormality of extrapyramidal motor function, Exaggerated startle... |
ORPHA:320406 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopa... |
OMIM:610198 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa... |
OMIM:608643 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Jeune Syndrome |
|
Nephronophthisis, Nephropathy, Renal insufficiency |
ORPHA:474 |
Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Stiff Person Spectrum Disorder |
|
Rigidity, Exaggerated startle response |
ORPHA:3198 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Cardiomyopathy, Abnormal left ventricular function, Heart block |
ORPHA:98912 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616629 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... |
ORPHA:563 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Myoclonic spasms, Rigidity, Frequent falls, Opisthotonus |
OMIM:184850 |
Timothy Syndrome |
|
Prolonged QT interval, Bradycardia |
OMIM:601005 |
Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT interval, Polydipsia |
ORPHA:251274 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Truncal titubation, Dysmetria, Tremor... |
OMIM:618056 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... |
OMIM:115197 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Abnormal auditory evoked potentials, Aganglionic megacolon, Neona... |
OMIM:600501 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Senior-Loken Syndrome 8 |
|
Stage 5 chronic kidney disease, Glomerular subepithelial immune-complex deposits, Global glomerul... |
OMIM:616307 |
Tay-Sachs Disease |
|
Exaggerated startle response, Hypertonia |
OMIM:272800 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... |
ORPHA:398124 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... |
ORPHA:37553 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... |
OMIM:601214 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:611560 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Hyperactivity, First degree atrioventricular block, Dysphagia |
ORPHA:589821 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... |
ORPHA:99106 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Dysphagia |
ORPHA:254361 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Renal dysplasia |
OMIM:616733 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Spasticity, Exaggerated startle response, Spastic tetraplegia, Hypertonia |
OMIM:617864 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Sandhoff Disease, Infantile Form |
|
Spasticity, Exaggerated startle response, Myoclonus |
ORPHA:309155 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... |
OMIM:261740 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block, Dysphagia |
OMIM:616479 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Restlessness, Agitation, Abnormal mitochondrial morphology |
OMIM:300438 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... |
ORPHA:99104 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Tay-Sachs Disease |
|
Poor fine motor coordination, Exaggerated startle response, Ankle clonus, Progressive spasticity,... |
ORPHA:845 |
Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... |
ORPHA:84085 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Tongue fasciculations, Exaggerated startle response |
OMIM:608800 |
Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Urinary urgency, Bladder trabeculation... |
OMIM:615112 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr... |
ORPHA:1880 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Dysphagia, Cardiomyopathy, Abnormal EKG |
ORPHA:1177 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval |
ORPHA:36913 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Sandhoff Disease |
|
Exaggerated startle response, Spasticity, Upper motor neuron dysfunction, Ataxia, Fasciculations |
OMIM:268800 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Limb hypertonia, Spastic tetraplegia |
OMIM:615574 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... |
OMIM:611705 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
Joubert Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:608629 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir... |
OMIM:310300 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, A... |
ORPHA:26793 |
Rhyns Syndrome |
|
Nephronophthisis, Renal insufficiency, Chronic kidney disease |
OMIM:602152 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Premature ventricular contraction, Oligospermia, Palpitations, Tachyca... |
OMIM:602668 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Noncompaction cardiomyopathy, Congestive heart fail... |
OMIM:604169 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT int... |
ORPHA:71212 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Hypertonia, Clonus |
OMIM:617301 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia, Ataxia |
ORPHA:438216 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Dysphagia, Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG |
ORPHA:268 |
Scorpion Envenomation |
|
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... |
ORPHA:466677 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... |
OMIM:236730 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Angina pect... |
ORPHA:85451 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Chronic kidney disease |
OMIM:615630 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... |
ORPHA:93101 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Joubert Syndrome 6 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Abnormal pyramidal sign, Rigidity, Abnormality of extrapyramidal mo... |
OMIM:617527 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal cortic... |
OMIM:174000 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Dysphagia, Arrhythmia, Prolonged QT interval, Abnormal EKG |
ORPHA:480864 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Limb hypertonia, Rigidity, Abnormality of extrapyramidal motor func... |
ORPHA:521426 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Dysphagia, Mitral regurgitation, Right bundle branch block, Tricuspid regurgitation |
OMIM:619576 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Vesicoureteral reflux, Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage... |
OMIM:191800 |
Juvenile Dermatomyositis |
|
Mucosal telangiectasiae, Bundle branch block, Telangiectasia of the skin, Vasculitis, Angina pect... |
ORPHA:93672 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... |
OMIM:612158 |
Gitelman Syndrome |
|
Hypotension, Prolonged QT interval, Ventricular tachycardia, Palpitations, Salt craving, Polydipsia |
OMIM:263800 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Spasticity, Abnormality of extrapyramidal motor function, Dystonia,... |
ORPHA:79255 |
Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ... |
OMIM:216360 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Dysphagia, Bradycardia, Tachycardia, Atrial fibrillation |
OMIM:613327 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Bidirectional ventricular ectopy,... |
OMIM:170390 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Left bundle branch block, Ventricular bigeminy, Arrhythmia |
OMIM:610131 |
Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... |
OMIM:613674 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... |
ORPHA:90068 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachycardia, Prolong... |
OMIM:616878 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
Ethylene Glycol Poisoning |
|
Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Alcoholism, Ta... |
ORPHA:31826 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormality of medullary pyramid morphology |
ORPHA:79243 |
Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
Friedreich Ataxia |
|
Abnormal EKG, Decreased pyruvate carboxylase activity, Congestive heart failure, Mitochondrial ma... |
OMIM:229300 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Attention deficit hyperactivity disorder |
OMIM:300352 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... |
ORPHA:2041 |
Xanthinuria, Type I |
|
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis |
OMIM:278300 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Heart murmur, Hypertension, Abnormal left ventricular function, Left anterior fascicular block, A... |
ORPHA:437572 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Gitelman Syndrome |
|
Abnormal T-wave, Prominent U wave, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST ... |
ORPHA:358 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:66634 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dysphagia, Decreased mitochondrial number, Dilated cardiomyopathy, Arrhythmia |
ORPHA:352447 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Prolonged QT interval, Attention deficit hyperactivity disorder,... |
OMIM:620029 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Abnormality of the mitochondrion |
ORPHA:91130 |
Barth Syndrome |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:302060 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... |
ORPHA:137675 |
Spastic Paraplegia Type 7 |
|
Dysphagia, Attention deficit hyperactivity disorder, Abnormal mitochondrial morphology |
ORPHA:99013 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation |
OMIM:618541 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Thyrotoxic Periodic Paralysis |
|
Impaired myocardial contractility, Shortened PR interval, Prolonged QT interval, Palpitations, Se... |
ORPHA:79102 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... |
OMIM:610188 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Hypertrophic cardiomyopathy, Myocardial infarction, Arrhythmia, Pulmonic ste... |
ORPHA:500 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency |
OMIM:619322 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Atrioventricular block, Arrhythmia |
ORPHA:85447 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Senior-Boichis Syndrome |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Abnormal renal insterstitial morpho... |
ORPHA:84081 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Dysphagia, Disinhibition, Abnormal mitochondrial morphology |
ORPHA:275872 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Reduced renal corticomedullary diff... |
OMIM:208085 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Right bundle branch block, Blo... |
ORPHA:2299 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Decreased numbers of nephro... |
OMIM:617641 |
Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, ST segment depression, ... |
ORPHA:466650 |
Fabry Disease |
|
Mucosal telangiectasiae, Transient ischemic attack, Bundle branch block, Telangiectasia of the sk... |
ORPHA:324 |
Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... |
ORPHA:2704 |
Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Reduc... |
OMIM:602522 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... |
OMIM:500013 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation |
OMIM:617397 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
Crimean-Congo Hemorrhagic Fever |
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Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, Hemothorax, Hemope... |
ORPHA:99827 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Hypertrophic cardiomyopathy, Palpitations, Decreased activity of mitochondrial complex I, Mitocho... |
OMIM:618250 |
Pseudohypoparathyroidism Type 1B |
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Prolonged QT interval |
ORPHA:94089 |
Atrial Standstill 2 |
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Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
Pseudohypoparathyroidism Type 1C |
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Prolonged QT interval, Polyphagia |
ORPHA:79444 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Hypotension, Reduced left ventricular ejection fraction, Heart block, Capillary leak, Arrhythmia,... |
ORPHA:542323 |
Ventriculomegaly With Cystic Kidney Disease |
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Renal corticomedullary cysts, Renal insufficiency |
OMIM:219730 |
Muscular Dystrophy, Duchenne Type |
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Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:310200 |
Joubert Syndrome 2 |
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Nephronophthisis, Renal insufficiency, Renal cyst |
OMIM:608091 |
Congenital Aortic Valve Stenosis |
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Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... |
ORPHA:3093 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Posterior Urethral Valve |
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Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
Danon Disease |
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Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
Eisenmenger Syndrome |
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Pulmonary arterial hypertension, Supraventricular tachycardia, Right bundle branch block, Heart m... |
ORPHA:97214 |
Pseudohypoparathyroidism Type 1A |
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Prolonged QT interval, Polyphagia, Hypertension |
ORPHA:79443 |
Nestor-Guillermo Progeria Syndrome |
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Pulmonary arterial hypertension, Right bundle branch block, Sinus tachycardia, Hypertension, Mitr... |
OMIM:614008 |
Cranioectodermal Dysplasia 3 |
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Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614099 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Leopard Syndrome 1 |
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Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic stenosis, Bundle branc... |
OMIM:151100 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
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Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Decreased activity of mitochondrial complex I, Increased mitochondrial number |
OMIM:615578 |
17Q24.2 Microdeletion Syndrome |
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Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
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Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block |
OMIM:609438 |
Short Rib-Polydactyly Syndrome |
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Urogenital sinus anomaly, Abnormality of the kidney, Polycystic kidney dysplasia, Multiple glomer... |
ORPHA:1505 |
Refsum Disease |
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Cardiomyopathy, Heart block |
ORPHA:773 |
Congenitally Corrected Transposition Of The Great Arteries |
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Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... |
ORPHA:216694 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Aortic regurgitation, Right bundle branch block, Tricuspid regurgitation |
OMIM:617402 |
Atresia Of Urethra |
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Vesicoureteral reflux, Recurrent urinary tract infections, Renal dysplasia, Hydroureter, Bladder ... |
ORPHA:105 |
Al Amyloidosis |
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Reduced left ventricular ejection fraction, Abnormal EKG, Hypertrophic cardiomyopathy, Jaw claudi... |
ORPHA:85443 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Mitral regurgitation, Right bundle branch block, Pulmonic stenosis, Tricuspid regurgitation |
OMIM:617506 |
Simpson-Golabi-Behmel Syndrome |
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Bundle branch block, Prolonged QT interval, Cardiomyopathy |
ORPHA:373 |
Neuromuscular Oculoauditory Syndrome |
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Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Cln3 Disease |
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T-wave inversion, Bradycardia, Dysphagia |
ORPHA:228346 |
Friedreich Ataxia 2 |
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Concentric hypertrophic cardiomyopathy, Abnormal EKG, Decreased pyruvate carboxylase activity, Co... |
OMIM:601992 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations |
ORPHA:231625 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... |
OMIM:212138 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Prolonged QT interval, Azoospermia, Tachycardia |
ORPHA:1772 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Left ventricular outflow tract obstruction, Abnormality of blood circulation, Cardiac shunt, Hear... |
ORPHA:860 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Renal dysplasia, Acute kidney injury, Stage 5 chronic kidney disease, Renal cyst, Reduced renal c... |
OMIM:266920 |
Dpagt1-Cdg |
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Prolonged QT interval, Intracranial hemorrhage |
ORPHA:86309 |
Chronic Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Myoclonus, Dystonia, Exaggerated startle response, Involuntary movements |
ORPHA:438213 |
Heart Block, Congenital |
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Mitral regurgitation, Atrioventricular block, Absent atrioventricular node, Atrial arrhythmia, Ca... |
OMIM:234700 |
Cutis Laxa, Autosomal Recessive, Type Iid |
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Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure |
OMIM:617403 |
Degcags Syndrome |
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Abnormal renal cortex morphology, Abnormal renal medulla morphology, Recurrent urinary tract infe... |
OMIM:619488 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Decreased plasma free carnitine, Decreased plasma total carnitine, Heart block, Arrhythmia, Cardi... |
ORPHA:228308 |
Dopamine Beta-Hydroxylase Deficiency |
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Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG |
ORPHA:230 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Shortened QT interval, Polydipsia, Dysphagia |
ORPHA:99880 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis |
OMIM:619362 |
Lyme Disease |
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Atrioventricular block, Arrhythmia |
ORPHA:91546 |
Parathyroid Carcinoma |
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Shortened QT interval, Polydipsia, Dysphagia |
ORPHA:143 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Hydroureter, Hydronephrosis, Megacystis |
OMIM:619431 |
Tuberous Sclerosis 2 |
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Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Absence of renal corticomedullary differe... |
OMIM:613254 |
Dextrocardia |
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T-wave inversion, Abnormal EKG |
ORPHA:1666 |
Congenital Sialidosis Type 2 |
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Telangiectasia, Abnormal EKG |
ORPHA:93400 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Myocardial infarction, Prolonged QT interval, Attention deficit hyperactivity disorder, Hypertension |
ORPHA:99413 |
Turner Syndrome |
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Myocardial infarction, Prolonged QT interval, Attention deficit hyperactivity disorder, Hypertension |
ORPHA:881 |
Mosaic Monosomy X |
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Myocardial infarction, Prolonged QT interval, Attention deficit hyperactivity disorder, Hypertension |
ORPHA:99228 |
Monosomy X |
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Myocardial infarction, Prolonged QT interval, Attention deficit hyperactivity disorder, Hypertension |
ORPHA:99226 |
Cornelia De Lange Syndrome 1 |
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Vesicoureteral reflux, Renal cyst, Reduced renal corticomedullary differentiation, Hypospadias, E... |
OMIM:122470 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Atrioventricular septal defect 3 |
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Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs... |
OMIM:600309 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Dysphagia, Mitochondrial swelling |
ORPHA:397744 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
ORPHA:101085 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... |
ORPHA:206436 |
Primary Hyperoxaluria |
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Arterial occlusion, Raynaud phenomenon, Intermittent claudication, Heart block, Cardiomyopathy |
ORPHA:416 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape, Dysphagia |
ORPHA:412217 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy |
OMIM:619518 |
Cardiac Diverticulum |
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Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... |
ORPHA:1686 |
Absence Of The Pulmonary Artery |
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Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... |
ORPHA:980 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape, Dysphagia |
ORPHA:485421 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Abnormal mitochondrial shape, Decreased activity of mitochondrial complex III, Hypertrophic cardi... |
ORPHA:17 |
Autosomal Recessive Polycystic Kidney Disease |
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Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
Alagille Syndrome 1 |
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Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla... |
OMIM:118450 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormal autonomic nervous... |
OMIM:609136 |
Alternating Hemiplegia Of Childhood |
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Abnormal T-wave, Arrhythmia, Impulsivity, Cardiac conduction abnormality, Dysphagia, Oral-pharyng... |
ORPHA:2131 |
Cockayne Syndrome Type 1 |
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Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Mitochondrial swelling |
OMIM:615595 |
Trisomy 10P |
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Macrotia, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked potentials, Abnor... |
ORPHA:171929 |
Glycogen Storage Disease Ii |
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Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, S... |
OMIM:232300 |
Scimitar Syndrome |
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Pulmonary arterial hypertension, Congestive heart failure, Left-to-right shunt, Heart block |
ORPHA:185 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardi... |
ORPHA:255210 |
Meier-Gorlin Syndrome 7 |
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Second degree atrioventricular block, Heart block |
OMIM:617063 |
Multiple Endocrine Neoplasia Type 1 |
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Hematemesis, Shortened QT interval, Hypertension, Melena |
ORPHA:652 |
Cartilage-Hair Hypoplasia |
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Cardiomyopathy, Heart block |
ORPHA:175 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape |
ORPHA:543470 |
Cerebrotendinous Xanthomatosis |
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Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... |
ORPHA:909 |
Hyperoxaluria, Primary, Type I |
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Raynaud phenomenon, Intermittent claudication, Atrioventricular block, Arterial occlusion |
OMIM:259900 |
Cockayne Syndrome B |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Myocarditis, Atrioventricular block, Arrhythmia |
ORPHA:93317 |
Cockayne Syndrome A |
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Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:216400 |
Cerebellar-Facial-Dental Syndrome |
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Abnormal T-wave |
ORPHA:444072 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
African Trypanosomiasis |
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Third degree atrioventricular block, Abnormal EKG, Congestive heart failure, Pericarditis, Arrhyt... |
ORPHA:3385 |
Woodhouse-Sakati Syndrome |
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Abnormal T-wave |
OMIM:241080 |
Sarcoidosis |
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Abnormal cardiac ventricular function, Heart block, Ventricular tachycardia, Arrhythmia, Portal h... |
ORPHA:797 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Woodhouse-Sakati Syndrome |
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Abnormal T-wave |
ORPHA:3464 |