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 |
Progressive Familial Heart Block, Type Ia |
|
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... |
OMIM:113900 |
Nephronophthisis 20 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:617271 |
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 |
Hyperekplexia 3 |
|
Hypertonia, Exaggerated startle response |
OMIM:614618 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal speech discrimina... |
OMIM:609129 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia |
OMIM:192605 |
Deafness, Autosomal Recessive 9 |
|
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Nephronophthisis 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts |
OMIM:613824 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
Familial Progressive Cardiac Conduction Defect |
|
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block |
ORPHA:871 |
Developmental And Epileptic Encephalopathy 8 |
|
Hypertonia, Exaggerated startle response |
OMIM:300607 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Bundle branch block, Ventricular tachycardia |
OMIM:615616 |
Brugada Syndrome |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... |
ORPHA:130 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... |
ORPHA:45453 |
Brugada Syndrome 2 |
|
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... |
OMIM:611777 |
Brugada Syndrome 5 |
|
ST segment elevation, Ventricular fibrillation, Bundle branch block |
OMIM:612838 |
Progressive Familial Heart Block, Type Ib |
|
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... |
OMIM:604559 |
Brugada Syndrome 1 |
|
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... |
OMIM:601144 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... |
OMIM:601154 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QT interval |
OMIM:611820 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes |
OMIM:220400 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... |
OMIM:611819 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria |
OMIM:266900 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... |
OMIM:618598 |
Brugada Syndrome 9 |
|
Palpitations, ST segment elevation, Presyncope |
OMIM:616399 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... |
OMIM:613485 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes |
OMIM:612347 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... |
OMIM:614954 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... |
OMIM:616117 |
Long Qt Syndrome 1 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... |
OMIM:192500 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... |
OMIM:613838 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... |
OMIM:618920 |
Hyperekplexia 2 |
|
Hypertonia, Myoclonus, Exaggerated startle response |
OMIM:614619 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology |
ORPHA:111 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... |
OMIM:600858 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication |
OMIM:613643 |
Long Qt Syndrome 3 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope |
OMIM:613695 |
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, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor |
OMIM:610297 |
Parkinsonism With Spasticity, X-Linked |
|
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign |
OMIM:300911 |
Long Qt Syndrome 14 |
|
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... |
OMIM:616247 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... |
OMIM:615862 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... |
OMIM:615441 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... |
OMIM:614021 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Senior-Loken Syndrome 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria |
OMIM:606996 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... |
ORPHA:263297 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... |
OMIM:608567 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Long Qt Syndrome 15 |
|
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval |
OMIM:616249 |
Coach Syndrome 3 |
|
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... |
OMIM:619113 |
Long Qt Syndrome 16 |
|
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval |
OMIM:618782 |
Nephronophthisis 4 |
|
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... |
OMIM:606966 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Stage 5 chron... |
OMIM:614817 |
Joubert Syndrome 4 |
|
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency |
OMIM:609583 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope |
OMIM:600919 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Atrial Standstill |
|
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... |
ORPHA:1344 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... |
OMIM:608758 |
Hyperekplexia-Epilepsy Syndrome |
|
Hypertonia, Exaggerated startle response |
ORPHA:163985 |
Nephronophthisis 3 |
|
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... |
OMIM:604387 |
Long Qt Syndrome 12 |
|
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval |
OMIM:612955 |
Brugada Syndrome 7 |
|
ST segment elevation, Atrial flutter |
OMIM:613120 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... |
OMIM:611555 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Clonus, Myoclonus, Exaggerated startle response |
OMIM:618201 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... |
ORPHA:99105 |
Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... |
ORPHA:217607 |
Nephronophthisis 1 |
|
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... |
OMIM:256100 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... |
ORPHA:2838 |
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria |
|
Mitochondrial lysine transport defect |
OMIM:238710 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension |
OMIM:615378 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Tako-Tsubo Cardiomyopathy |
|
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... |
ORPHA:66529 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... |
OMIM:615344 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Romano-Ward Syndrome |
|
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... |
ORPHA:101016 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia |
OMIM:615382 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... |
OMIM:619464 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Nephronophthisis 13 |
|
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria |
OMIM:614377 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
Ebstein Anomaly |
|
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... |
OMIM:224700 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... |
OMIM:617805 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval |
OMIM:618052 |
Senior-Loken Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease |
ORPHA:3156 |
Long Qt Syndrome 8 |
|
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... |
OMIM:618447 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Progressive Familial Heart Block, Type Ii |
|
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... |
OMIM:140400 |
Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... |
OMIM:108770 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst |
OMIM:618270 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations |
OMIM:612240 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor |
OMIM:168100 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... |
ORPHA:168796 |
Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Decreased activity of mitochondri... |
OMIM:618378 |
Nephronophthisis 19 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616217 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Renal tubular atrop... |
OMIM:603860 |
Gm2-Gangliosidosis, Ab Variant |
|
Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Dystonia, Chorea, Exaggerated startle r... |
OMIM:272750 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Cardiomyopathy, Arrhythmia |
OMIM:300376 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... |
OMIM:611875 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity |
OMIM:601382 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... |
OMIM:604772 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... |
OMIM:604145 |
Urofacial Syndrome 2 |
|
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... |
OMIM:615112 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... |
OMIM:609620 |
Hyperekplexia 1 |
|
Hypertonia, Frequent falls, Myoclonus, Exaggerated startle response |
OMIM:149400 |
Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... |
ORPHA:45452 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Prolonged QT interval, No... |
OMIM:610198 |
Jervell And Lange-Nielsen Syndrome |
|
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval |
ORPHA:90647 |
Familial Short Qt Syndrome |
|
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... |
ORPHA:51083 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... |
OMIM:260300 |
Nephronophthisis 2 |
|
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... |
OMIM:602088 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block |
ORPHA:206559 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Dysphagia, Right bundle branch block |
OMIM:616479 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... |
OMIM:611528 |
Cardiogenic Shock |
|
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... |
ORPHA:97292 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Spasticity, Exaggerated startle response |
OMIM:618367 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal pyramidal sign, Dystonia, Chorea, Exaggerated startle response, Progressive spastic quad... |
ORPHA:309246 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... |
OMIM:115197 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... |
ORPHA:617 |
Atrial Septal Defect, Ostium Secundum Type |
|
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... |
ORPHA:99103 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation, Dysphagia |
ORPHA:94125 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Increased circulating troponin I concentration, Prolonged QTc interval |
OMIM:619040 |
Tropical Endomyocardial Fibrosis |
|
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... |
ORPHA:75565 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestive heart failur... |
ORPHA:75566 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Babinski sign, Spastic paraplegia, Exaggerated startle response |
OMIM:609541 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Choreoathetosis, Oculogyric crisis, Blepharospasm, Limb hypertonia, Athetosis, Limb dystonia, Ton... |
OMIM:608643 |
Nephronophthisis 11 |
|
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... |
OMIM:613550 |
Congenital Megacalycosis |
|
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... |
ORPHA:93109 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Short Qt Syndrome 2 |
|
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... |
OMIM:609621 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... |
ORPHA:90065 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis |
OMIM:616629 |
Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Renal corticom... |
OMIM:613159 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Progressive spastic paraplegia, Abnormality of extrapyramidal motor function, Exaggerated startle... |
ORPHA:320406 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... |
OMIM:143400 |
Jeune Syndrome |
|
Nephronophthisis, Nephropathy, Renal insufficiency |
ORPHA:474 |
Vesicoureteral Reflux 3 |
|
Hydronephrosis, Vesicoureteral reflux, Hydroureter |
OMIM:613674 |
Peripartum Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... |
ORPHA:563 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Polydipsia, Intracranial hemorrhage, Epistaxis |
ORPHA:251274 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... |
OMIM:604400 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617182 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Cardiomyopathy, Abnormal left ventricular function |
ORPHA:98912 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:300751 |
Brugada Syndrome 4 |
|
Syncope, Atrial fibrillation, Shortened QT interval |
OMIM:611876 |
Naxos Disease |
|
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... |
OMIM:601214 |
Senior-Loken Syndrome 8 |
|
Nephronophthisis |
OMIM:616307 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... |
OMIM:194200 |
Stiff Person Spectrum Disorder |
|
Rigidity, Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
|
Hypertonia, Exaggerated startle response |
OMIM:272800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Cirrhotic Cardiomyopathy |
|
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... |
ORPHA:57777 |
Stiff-Person Syndrome |
|
Frequent falls, Opisthotonus, Myoclonic spasms, Rigidity, Exaggerated startle response |
OMIM:184850 |
Timothy Syndrome |
|
Bradycardia, Prolonged QT interval |
OMIM:601005 |
Parkinson Disease 17 |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor |
OMIM:614203 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Arrhythmia, Prolonged QT interval, Atrioventricular block, Abnormal elect... |
ORPHA:398124 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Dysphagia, Right bundle branch block |
ORPHA:254361 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... |
OMIM:115200 |
Atrial Septal Defect, Ostium Primum Type |
|
Prolonged PR interval, Atrial flutter, Systolic heart murmur, Congestive heart failure, Abnormall... |
ORPHA:99106 |
Barth Syndrome |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... |
OMIM:302060 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Non-Syndromic Genetic Deafness |
|
High-frequency hearing impairment, Low-frequency sensorineural hearing impairment, Abnormal speec... |
ORPHA:87884 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Oligomeganephronia |
|
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... |
ORPHA:2260 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... |
ORPHA:320401 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
Sinus Node Disease And Myopia |
|
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome |
OMIM:182190 |
Andersen-Tawil Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... |
ORPHA:37553 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal cyst, Stage 5 chronic kidney disease, Renal dysplasia, Nephropathy, Nephronophthisis |
OMIM:266920 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst |
OMIM:611560 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... |
ORPHA:1329 |
Rhyns Syndrome |
|
Nephronophthisis, Chronic kidney disease, Renal insufficiency |
OMIM:602152 |
Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Congestive heart failure, Abnormal atrioventricular conduction, Right bund... |
ORPHA:439 |
Atrial Septal Defect, Coronary Sinus Type |
|
Systolic heart murmur, Arrhythmia, Abnormally loud pulmonic component of the second heart sound, ... |
ORPHA:99104 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Arrhythmia, Sick sinus syndrome |
OMIM:617173 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... |
ORPHA:439232 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Tay-Sachs Disease |
|
Incoordination, Dysmetria, Dystonia, Frequent falls, Decerebrate rigidity, Fasciculations, Tremor... |
ORPHA:845 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... |
OMIM:606324 |
Hinman Syndrome |
|
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... |
ORPHA:84085 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Dysphagia |
ORPHA:1177 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... |
OMIM:608751 |
Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Prolonged QT interval, Abnormal left ventricular function |
ORPHA:36913 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity |
OMIM:601455 |
Tricarboxylic Acid Cycle, Defect Of |
|
Decreased activity of the pyruvate dehydrogenase complex |
OMIM:275370 |
Ebstein Malformation Of The Tricuspid Valve |
|
Arrhythmia, Congestive heart failure, Sudden cardiac death, Right bundle branch block, Atrial fib... |
ORPHA:1880 |
Joubert Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:608629 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... |
OMIM:310468 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... |
OMIM:616201 |
Sandhoff Disease |
|
Fasciculations, Ataxia, Upper motor neuron dysfunction, Spasticity, Exaggerated startle response |
OMIM:268800 |
Asparagine Synthetase Deficiency |
|
Spastic tetraplegia, Exaggerated startle response |
OMIM:615574 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Cardiac arrest, Atrial fibrillation, Supraventricular tachycardia, Atriov... |
OMIM:612158 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Attrv122I Amyloidosis |
|
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abnormal atriovent... |
ORPHA:85451 |
Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism, Resting tremor, Bradykinesia |
OMIM:614251 |
Parkinson Disease 21 |
|
Rigidity, Parkinsonism, Bradykinesia, Tremor |
OMIM:616361 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Reduced ejection fraction, Abnormal EKG, Dysphagia, Right bundle branch block |
ORPHA:268 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Prominent U wave |
OMIM:170390 |
Joubert Syndrome 6 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Decreased plasma carnitine, Decreased 3-hydr... |
ORPHA:71212 |
Friedreich Ataxia |
|
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... |
OMIM:229300 |
Scorpion Envenomation |
|
Increased circulating troponin I concentration, Arrhythmia, Premature ventricular contraction, Co... |
ORPHA:466677 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hypertonia, Clonus, Exaggerated startle response |
OMIM:617301 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Atrial fibrillation, Dysphagia, Bradycardia, Tachycardia |
OMIM:613327 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Renal Hypoplasia |
|
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... |
ORPHA:93101 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Prolonged ... |
ORPHA:26793 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Exaggerated startle response |
ORPHA:438216 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mitral regurgitation, Tricuspid regurgitation, Dysphagia, Right bundle branch block |
OMIM:619576 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Chronic kidney disease |
OMIM:615630 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Arrhythmia, Mucosal telangiectasiae, Bundle branch block, Telangiect... |
ORPHA:93672 |
Urofacial Syndrome 1 |
|
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:236730 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... |
OMIM:174000 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Abnormal pyramidal sign, Rigidity, Babinski sign, Exaggerated startle response, Abnormality of ex... |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Limb hypertonia, Rigidity, Exaggerated startle response, Progressive spastic quadripleg... |
ORPHA:521426 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Renal cyst, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Absence of... |
OMIM:263200 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Abnormal EKG, Prolonged QT interval, Dysphagia, Arrhythmia |
ORPHA:480864 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Gitelman Syndrome |
|
Ventricular tachycardia, Polydipsia, Hypotension, Prolonged QT interval, Palpitations, Salt craving |
OMIM:263800 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... |
OMIM:601596 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple small medullary r... |
OMIM:216360 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hydronephrosis, Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Stage 2 chro... |
OMIM:191800 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Dilated cardiomyopathy, Dysphagia, Arrhythmia |
ORPHA:352447 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy |
OMIM:610773 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Oral-phary... |
OMIM:616878 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Abnormality of the mitochondrion, Low-output congestive heart failure |
ORPHA:91130 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval |
ORPHA:94089 |
Gitelman Syndrome |
|
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Polydipsia, Palpitations, Prolo... |
ORPHA:358 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... |
ORPHA:2041 |
Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Atrial arrhythmia, Atrioventricular block |
OMIM:310300 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Arrhythmia, Abnormal left ventricular function, Left anterior fascicular block, Heart murmur, Hyp... |
ORPHA:437572 |
Xanthinuria, Type I |
|
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria |
OMIM:278300 |
Cocaine Intoxication |
|
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Ventricular arrhyth... |
ORPHA:90068 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... |
OMIM:601419 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Prolonged QT interval |
ORPHA:66634 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Cardiomyopathy |
OMIM:310200 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormality of medullary pyramid morphology |
ORPHA:79243 |
Renal Dysplasia |
|
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... |
ORPHA:93108 |
Ethylene Glycol Poisoning |
|
Congestive heart failure, Hypotension, Prolonged QT interval, Atrial fibrillation, Hypertension, ... |
ORPHA:31826 |
Gm1 Gangliosidosis Type 1 |
|
Decerebrate rigidity, Spasticity, Exaggerated startle response |
ORPHA:79255 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Abnormal T-wave, Abnormal left ventricular function, Congestive heart failure, Pulmonary embolism... |
ORPHA:70591 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval |
OMIM:300352 |
Histiocytoid Cardiomyopathy |
|
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... |
ORPHA:137675 |
Desminopathy |
|
Congestive heart failure, Sudden cardiac death, Atrioventricular block, Concentric hypertrophic c... |
ORPHA:98909 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... |
OMIM:602522 |
Noonan Syndrome With Multiple Lentigines |
|
Arrhythmia, Hypertrophic cardiomyopathy, Bundle branch block, Myocardial infarction, Pulmonic ste... |
ORPHA:500 |
Joubert Syndrome 5 |
|
Nephronophthisis, Renal cortical cysts, Stage 5 chronic kidney disease, Impaired renal concentrat... |
OMIM:610188 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... |
OMIM:163800 |
Rigid Spine Syndrome |
|
Cardiac conduction abnormality |
ORPHA:97244 |
Wild Type Attr Amyloidosis |
|
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... |
ORPHA:330001 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bifid ureter, Decrea... |
OMIM:617641 |
Arima Syndrome |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Renal t... |
OMIM:243910 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... |
OMIM:108950 |
Senior-Boichis Syndrome |
|
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... |
ORPHA:84081 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency |
OMIM:619322 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Prolonged QT interval, ... |
ORPHA:466650 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block |
ORPHA:85447 |
Thyrotoxic Periodic Paralysis |
|
Second degree atrioventricular block, Ventricular fibrillation, Shortened PR interval, Prolonged ... |
ORPHA:79102 |
Fabry Disease |
|
Mucosal telangiectasiae, Arrhythmia, Congestive heart failure, Bundle branch block, Hypertrophic ... |
ORPHA:324 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure |
OMIM:617403 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... |
ORPHA:1215 |
Mohr-Tranebjaerg Syndrome |
|
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Prelingual sensorineural ... |
ORPHA:52368 |
Aortic Arch Interruption |
|
Systolic heart murmur, Aortic regurgitation, Congestive heart failure, Shock, Absent pulse, Right... |
ORPHA:2299 |
Friedreich Ataxia 2 |
|
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... |
OMIM:601992 |
Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Abnormality of the outer ear,... |
OMIM:201050 |
Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... |
ORPHA:93599 |
Friedreich Ataxia And Congenital Glaucoma |
|
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... |
OMIM:229310 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology, Dysphagia |
ORPHA:275872 |
Ochoa Syndrome |
|
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Ur... |
ORPHA:2704 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hydronephrosis, Polyuria |
OMIM:304900 |
Atrial Standstill 2 |
|
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... |
OMIM:615745 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology, Dysphagia |
ORPHA:99013 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Arrhythmia, Hypotension, Heart block, Capillary leak, Tachycardia |
ORPHA:542323 |
Myopathy With Lactic Acidosis, Hereditary |
|
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex II, Ab... |
OMIM:255125 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, D... |
OMIM:500013 |
Crimean-Congo Hemorrhagic Fever |
|
Subconjunctival hemorrhage, Hemoperitoneum, Diffuse alveolar hemorrhage, Abnormal left ventricula... |
ORPHA:99827 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... |
ORPHA:3093 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... |
OMIM:600740 |
Joubert Syndrome 2 |
|
Nephronophthisis, Abnormal renal physiology, Renal cyst |
OMIM:608091 |
Pseudohypoparathyroidism Type 1C |
|
Polyphagia, Prolonged QT interval |
ORPHA:79444 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency |
OMIM:219730 |
Leopard Syndrome 1 |
|
Third degree atrioventricular block, Bundle branch block, Hypertrophic cardiomyopathy, Pulmonic s... |
OMIM:151100 |
Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... |
OMIM:260000 |
Cranioectodermal Dysplasia 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614099 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Posterior Urethral Valve |
|
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... |
ORPHA:93110 |
Eisenmenger Syndrome |
|
Right-to-left shunt, Elevated jugular venous pressure, Ventricular tachycardia, Left-to-right shu... |
ORPHA:97214 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block |
OMIM:616812 |
Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation |
OMIM:617397 |
Pseudohypoparathyroidism Type 1A |
|
Polyphagia, Prolonged QT interval, Hypertension |
ORPHA:79443 |
Nestor-Guillermo Progeria Syndrome |
|
Sinus tachycardia, Right bundle branch block, Pulmonary arterial hypertension, Hypertension, Mitr... |
OMIM:614008 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Al Amyloidosis |
|
Increased circulating troponin I concentration, Gastrointestinal hemorrhage, Arrhythmia, Jaw clau... |
ORPHA:85443 |
Refsum Disease |
|
Heart block, Cardiomyopathy |
ORPHA:773 |
Short Rib-Polydactyly Syndrome |
|
Multiple glomerular cysts, Abnormality of the kidney, Polycystic kidney dysplasia, Nephronophthis... |
ORPHA:1505 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Cardiomyopathy |
ORPHA:373 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis |
ORPHA:231625 |
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
|
Abnormal atrioventricular conduction, Atrioventricular block |
OMIM:118230 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... |
OMIM:302900 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm |
ORPHA:542306 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Abnormality of blood circulation, Heart murmur, Left ventricular outflo... |
ORPHA:860 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... |
ORPHA:216694 |
Atresia Of Urethra |
|
Dilatation of the bladder, Hydronephrosis, Patent urachus, Megacystis, Renal dysplasia, Recurrent... |
ORPHA:105 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Mitral regurgitation, Tricuspid regurgitation, Right bundle branch block, Pulmonic stenosis |
OMIM:617506 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Stereotypical hand wringing, Involuntary movements, Exaggerated startle response, Myocl... |
ORPHA:438213 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... |
OMIM:212138 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Azoospermia, Tachycardia, Prolonged QT interval |
ORPHA:1772 |
Heart Block, Congenital |
|
Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atrioventricular block, Mitral r... |
OMIM:234700 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Tricuspid regurgitation, Right bundle branch block, Aortic regurgitation |
OMIM:617402 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
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Abnormal atrioventricular conduction, Orthostatic hypotension, Atrioventricular block |
OMIM:118301 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur, Reduced ejection fractio... |
ORPHA:1677 |
Acute Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor |
OMIM:619260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Decreased plasma total carnitine, Arrhythmia, Cardiomyopathy, Decreased plasma free carnitine, He... |
ORPHA:228308 |
Dopamine Beta-Hydroxylase Deficiency |
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Syncope, Abnormal EKG, Orthostatic hypotension, Orthostatic syncope |
ORPHA:230 |
Dpagt1-Cdg |
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Prolonged QT interval, Intracranial hemorrhage |
ORPHA:86309 |
Degcags Syndrome |
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Chordee, Renal hypoplasia, Abnormal renal medulla morphology, Chronic kidney disease, Bilateral r... |
OMIM:619488 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
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Bradycardia, Atrioventricular block |
OMIM:614407 |
Lyme Disease |
|
Atrioventricular block, Arrhythmia |
ORPHA:91546 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Polydipsia, Shortened QT interval, Dysphagia |
ORPHA:99880 |
Dextrocardia |
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T-wave inversion, Abnormal EKG |
ORPHA:1666 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis |
OMIM:619362 |
Parathyroid Carcinoma |
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Polydipsia, Shortened QT interval, Dysphagia |
ORPHA:143 |
Congenital Sialidosis Type 2 |
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Telangiectasia, Abnormal EKG |
ORPHA:93400 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Hydroureter, Hydronephrosis, Megacystis |
OMIM:619431 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormality of the mitochondrion |
ORPHA:330050 |
Atrioventricular Septal Defect 3 |
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Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... |
OMIM:600309 |
Cornelia De Lange Syndrome 1 |
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Ectopic kidney, Renal cyst, Reduced renal corticomedullary differentiation, Proteinuria, Renal hy... |
OMIM:122470 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Adult Krabbe Disease |
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EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Osteopetrosis, Autosomal Recessive 5 |
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Absence of renal corticomedullary differentiation |
OMIM:259720 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Dilated cardiomyopathy, Sudden cardiac death, Atrioventricular block, Ventricular escape rhythm, ... |
ORPHA:98855 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99413 |
Turner Syndrome |
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Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:881 |
Mosaic Monosomy X |
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Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99226 |
Emery-Dreifuss Muscular Dystrophy |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Atrioventricular block... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Atrioventricular block... |
ORPHA:98853 |
Holt-Oram Syndrome |
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Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block |
ORPHA:392 |
Absence Of The Pulmonary Artery |
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Atrial flutter, Reduced ejection fraction, Systolic heart murmur, Congestive heart failure, Abnor... |
ORPHA:980 |
Primary Hyperoxaluria |
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Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Arterial occlusion |
ORPHA:416 |
Cardiac Diverticulum |
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Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Premature ventricular contraction,... |
ORPHA:1686 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling |
ORPHA:397744 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... |
ORPHA:101085 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Hypertrophic cardiomyopathy, Sudden cardiac death, Atrioventricular block, Ventricular escape rhy... |
ORPHA:98863 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... |
ORPHA:99027 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy |
OMIM:619518 |
Alagille Syndrome 1 |
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Renal tubular acidosis, Multiple small medullary renal cysts, Renal hypoplasia, Renal dysplasia, ... |
OMIM:118450 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardi... |
ORPHA:255210 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Dysphagia |
ORPHA:412217 |
Autosomal Recessive Polycystic Kidney Disease |
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Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Acute kidney injury, P... |
ORPHA:731 |
Alternating Hemiplegia Of Childhood |
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Abnormal T-wave, Arrhythmia, Oral-pharyngeal dysphagia, Cardiac conduction abnormality, Dysphagia... |
ORPHA:2131 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape, Dysphagia |
ORPHA:485421 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... |
OMIM:609136 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, H... |
ORPHA:17 |
Leigh Syndrome With Cardiomyopathy |
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Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Pulmonic stenosis,... |
ORPHA:70474 |
Trisomy 10P |
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Abnormality of the ear, Low-set ears, EEG with burst suppression, Abnormal auditory evoked potent... |
ORPHA:171929 |
Cockayne Syndrome Type 1 |
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Hearing impairment, Macrotia, Absent brainstem auditory responses, Optic atrophy, Abnormality of ... |
ORPHA:90321 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Heart block, Left-to-right shunt, Congestive heart failure |
ORPHA:185 |
Cartilage-Hair Hypoplasia |
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Heart block, Cardiomyopathy |
ORPHA:175 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Multiple Endocrine Neoplasia Type 1 |
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Hematemesis, Shortened QT interval, Hypertension, Melena |
ORPHA:652 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the mitochondrion, Dysphagia |
ORPHA:298 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Dilated cardiomyopathy, Reduced ejection fraction, Arrhythmia, Ventricular arrhythmia, Atrial fib... |
ORPHA:254892 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape |
ORPHA:543470 |
Hyperoxaluria, Primary, Type I |
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Intermittent claudication, Raynaud phenomenon, Atrioventricular block, Arterial occlusion |
OMIM:259900 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
Cerebrotendinous Xanthomatosis |
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Abnormality of somatosensory evoked potentials, Optic neuropathy, Decreased nerve conduction velo... |
ORPHA:909 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave |
ORPHA:444072 |
Atrial Septal Defect 1 |
|
Second degree atrioventricular block, Aortic valve stenosis |
OMIM:108800 |
Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Decreased n... |
OMIM:133540 |
Cockayne Syndrome A |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Decreased n... |
OMIM:216400 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism |
ORPHA:31 |
African Trypanosomiasis |
|
Second degree atrioventricular block, Arrhythmia, Congestive heart failure, Abnormal EKG, Third d... |
ORPHA:3385 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity |
OMIM:150800 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
OMIM:241080 |
Sialuria |
|
Abnormality of the mitochondrion |
ORPHA:3166 |
Sarcoidosis |
|
Portal hypertension, Ventricular tachycardia, Arrhythmia, Abnormal cardiac ventricular function, ... |
ORPHA:797 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Abnormality of the mitochondrion |
OMIM:214110 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
ORPHA:3464 |
Steinert Myotonic Dystrophy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Oral-pharyn... |
ORPHA:273 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:277400 |