| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Sensorineural hearing impairment |
OMIM:208750 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
| Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Congestive heart failure, Recurrent infections of the midd... |
ORPHA:217622 |
| Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
| Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiom... |
OMIM:605362 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
| Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
| Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Familial Isolated Dilated Cardiomyopathy |
|
Sensorineural hearing impairment, Dilated cardiomyopathy, Lipoatrophy |
ORPHA:154 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
| Split Cord Malformation Type I |
|
Diastomatomyelia |
ORPHA:1671 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy |
OMIM:212130 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Myopathy, Myofibrillar, 3 |
|
Cardiomyopathy, Achilles tendon contracture |
OMIM:609200 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
| Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement |
OMIM:611556 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Vertigo, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... |
OMIM:608758 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Sensorineural hearing impairment, Failure to thrive, Hypertrophic cardi... |
OMIM:615440 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Obesity, Hearing impairment |
OMIM:620270 |
| Cardiomyopathy, Dilated, 3B |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:302045 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Vertigo, Congestive... |
ORPHA:1344 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression |
OMIM:251250 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
| Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy |
OMIM:609500 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy, Failure to thrive |
OMIM:619651 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Diabetes And Deafness, Maternally Inherited |
|
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment, Cardiomyopathy |
OMIM:520000 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... |
OMIM:616198 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Atrial fibrillation, Right ventricular cardiomyopathy, Congestive heart ... |
OMIM:115250 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Failure to thrive, Hearing impairment |
ORPHA:67048 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Cardiomyopathy, Myofiber disarray, Hearing impairment |
OMIM:301075 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
| Endocardial Fibroelastosis |
|
Low-set, posteriorly rotated ears, Congestive heart failure, Abnormal helix morphology, Endocardi... |
ORPHA:2022 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
| Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
| Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
| Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Cardiomyopathy |
ORPHA:63273 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Sensorineural hearing impairment, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Supraventricular arrhythmia |
ORPHA:320360 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Distal Myotilinopathy |
|
Cardiomyopathy, Multiple joint contractures |
ORPHA:98911 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Ankle flexion contracture, Congestive heart failure, Dilated cardiomyopathy, Flexion contracture,... |
OMIM:608099 |
| Myopathy, Distal, 4 |
|
Cardiomyopathy |
OMIM:614065 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Flexion contracture, Hearing impairment |
OMIM:618237 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased adipose tissue, Congestive heart failure, Sensorineural hearing impairment, Dilated car... |
ORPHA:1349 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy |
OMIM:610100 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Hurler-Scheie Syndrome |
|
Cardiomyopathy, Sensorineural hearing impairment, Abnormal heart valve morphology, Hernia |
ORPHA:93476 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Vertigo, Cardiomyopathy, Paroxysmal ventricular t... |
ORPHA:34217 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... |
OMIM:615745 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Noonan Syndrome 11 |
|
Posteriorly rotated ears, Bilateral sensorineural hearing impairment, Pulmonic stenosis, Low-set ... |
OMIM:618499 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Sensorineural hearing impairment, Dilated cardiomyopathy |
OMIM:619688 |
| Distal Myopathy, Welander Type |
|
Cardiomyopathy |
ORPHA:603 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi... |
OMIM:212112 |
| Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy, Sensorineural hearing impairment |
OMIM:610717 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Cardiogenic shock, Myofib... |
OMIM:619424 |
| Maternally-Inherited Diabetes And Deafness |
|
Congestive heart failure, Sensorineural hearing impairment, Hypertension, Hypertrophic cardiomyop... |
ORPHA:225 |
| Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy |
ORPHA:868 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:91130 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment |
OMIM:612989 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
| Distal Nebulin Myopathy |
|
Cardiomyopathy, Slender build, Ankle flexion contracture |
ORPHA:399103 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Infantile sensorineural hearing impairment |
ORPHA:3129 |
| Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Muscle Filaminopathy |
|
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy, Left ventricul... |
ORPHA:171445 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Cardiomyopathy, Flexion contracture |
OMIM:609308 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Hearing impairment |
OMIM:616277 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... |
OMIM:614096 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, ST segment elevation, Vertigo, Ventricular tachycardia, Ventricular sept... |
ORPHA:263297 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Cardiomyopathy, Abnormal left ventricular function |
ORPHA:98912 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Posteriorly rotated ears, Low-set ears, Hypertrophic cardiomyopat... |
OMIM:618378 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
| Hemochromatosis, Type 2A |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:602390 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis |
OMIM:619433 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d... |
OMIM:115197 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
| Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia |
ORPHA:35 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Joint contracture, Flexion contracture |
OMIM:608540 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Achilles tendon contracture, Hypertrophic cardiomyopathy, Arrhythmia, Hamstring contractures |
OMIM:300696 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
| Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
| Infantile Refsum Disease |
|
Sensorineural hearing impairment, Cardiomyopathy, Arrhythmia, Failure to thrive, Hearing impairment |
ORPHA:772 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Sensorineural hearing impairment, Cardiomyopat... |
OMIM:249270 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis |
OMIM:607685 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Global systolic dysfunction |
OMIM:606842 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment |
OMIM:616896 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Failure to thrive |
OMIM:613752 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Shoulder flexion contracture, Achilles tendon contracture, Elbow ... |
OMIM:619566 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
| Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618229 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Cardiomyopathy |
OMIM:608807 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Failure to thrive |
ORPHA:26792 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Cardiomegaly, Cardiom... |
OMIM:300280 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Cardiomyopathy, Joint contracture of the hand |
ORPHA:399086 |
| Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function |
OMIM:619492 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Cardiomyopathy, Abnormal atrioventricular conduction, Hearing impairment |
ORPHA:329336 |
| Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Flexion contracture, Arthrogryposis multiplex congenita, Low-set ears |
ORPHA:171433 |
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to... |
OMIM:618234 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
| Duchenne Muscular Dystrophy |
|
Cardiomyopathy, Flexion contracture |
ORPHA:98896 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Hearing impairment |
OMIM:500007 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Cardiomyopathy, Arrhythmia |
OMIM:612999 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
| Gne Myopathy |
|
Cardiomyopathy |
ORPHA:602 |
| Neurofibromatosis-Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal helix... |
ORPHA:638 |
| Congenital Myopathy 24 |
|
Cardiomyopathy, First degree atrioventricular block |
OMIM:617336 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Vertigo, Telangiectasia, Hypertrophic cardiomyopathy, Hearing impairment |
ORPHA:79279 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Left ventricular noncompaction |
OMIM:617228 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:1369 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy |
OMIM:615352 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:618236 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Cardiomyopathy, Hearing impairment |
ORPHA:401768 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Sensorineural hearing impairment, Failure to thrive |
OMIM:619046 |
| Heart Block, Congenital |
|
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... |
OMIM:234700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Cardiomyopathy, Flexion contracture |
OMIM:613155 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Bradycardia, Cardiac arrest |
OMIM:618235 |
| Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Sensorineural hearing impairment |
OMIM:614879 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endocardial fibroel... |
OMIM:212140 |
| Hemochromatosis, Type 2B |
|
Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Achilles tendon contracture, Dilated cardiomyopathy, Flex... |
OMIM:310200 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Cardiomyopathy |
ORPHA:1215 |
| Alg3-Cdg |
|
Lipodystrophy, Abnormal pinna morphology, Cardiomyopathy, Arthrogryposis multiplex congenita, Hea... |
ORPHA:79321 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncom... |
OMIM:252011 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
| Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment |
OMIM:300438 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Cardiomyopathy |
ORPHA:399058 |
| Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension |
ORPHA:767 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Pulmonic stenosis, Hypertrophic cardiomyopathy, Macrotia, Hear... |
ORPHA:2701 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Cardiomyopathy |
OMIM:232400 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis |
OMIM:615382 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Sensorineural hearing impairment, Inguinal hernia, Cardiomegaly |
OMIM:256550 |
| Noonan Syndrome 8 |
|
Failure to thrive, Ventricular septal defect, Large for gestational age, Mitral regurgitation, Pu... |
OMIM:615355 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart failure, Flexion c... |
ORPHA:1194 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cardiomyopathy, Hearing impairment |
ORPHA:254886 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomy... |
OMIM:614702 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:615279 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Flexion contracture, Low-set ears |
OMIM:616549 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy |
ORPHA:1177 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Myopathy, Myofibrillar, 4 |
|
Cardiomyopathy |
OMIM:609452 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Restrictive cardiomyopathy, Knee flexion contr... |
OMIM:612954 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Vaginal hernia |
ORPHA:3173 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618228 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia |
OMIM:606069 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hearing abnormality, Weight loss, Hernia, Atrial septal defect, Hypertrophic cardiomyopathy, Fail... |
ORPHA:1842 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Sensori... |
OMIM:620167 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Progressive hearing impairment, Bradycardia |
OMIM:609286 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:613561 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Knee flexion contracture, Abn... |
ORPHA:3208 |
| Childhood-Onset Nemaline Myopathy |
|
Cardiomyopathy, Flexion contracture, Arthrogryposis multiplex congenita, Slender build |
ORPHA:171439 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Cardiomyopathy, Abnormal cardiac ventricular function, Failure to thrive |
ORPHA:2394 |
| Glycogen Storage Disease Iv |
|
Cardiomyopathy, Failure to thrive, Arthrogryposis multiplex congenita, Portal hypertension |
OMIM:232500 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy, Inguinal hernia |
OMIM:620326 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Abnormal heart morphology |
ORPHA:70472 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prematu... |
OMIM:212138 |
| Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Large for gestational age |
OMIM:617757 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Hearing impairment |
OMIM:618839 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular arrhythmia, Achi... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Supraventricular arrhythmia, Achi... |
ORPHA:98853 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... |
ORPHA:330001 |
| Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Failure to thrive, Cong... |
OMIM:302060 |
| Tibial Muscular Dystrophy |
|
Cardiomyopathy |
ORPHA:609 |
| Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Sengers Syndrome |
|
Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiac arrest, Sudden cardiac death |
OMIM:212350 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Congestive heart failur... |
ORPHA:2348 |
| Hemochromatosis, Type 3 |
|
Cardiomyopathy |
OMIM:604250 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Bilateral sensorineural hearing impairment, Low-set ears |
OMIM:620089 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Obesity, Heart murmur, Left ventricular hypertrophy, Hypertrophic ca... |
OMIM:615418 |
| Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Cardiomyopathy, Failure to thrive |
ORPHA:79312 |
| Noonan Syndrome 5 |
|
Atrial septal defect, Large for gestational age, Pulmonic stenosis, Low-set ears, Thickened helic... |
OMIM:611553 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Left ventricular ... |
OMIM:617713 |
| Isolated Atp Synthase Deficiency |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Dilated cardiomyopathy, Arrhythmia |
ORPHA:254913 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Cardiomyopathy, Failure to thrive |
ORPHA:324525 |
| Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
| Kearns-Sayre Syndrome |
|
Cardiomyopathy, Sensorineural hearing impairment, Third degree atrioventricular block, Arrhythmia |
OMIM:530000 |
| Hemochromatosis, Type 1 |
|
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia |
OMIM:235200 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Left ventricular hypertrophy, Cardiomyopathy |
ORPHA:86812 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:369 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Lo... |
ORPHA:308552 |
| Lethal Acantholytic Erosive Disorder |
|
Abnormal pinna morphology, Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Ca... |
ORPHA:158687 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
ORPHA:280365 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Lipodystrophy, Supraventricular arrhythmia, Sudden cardiac death, Achi... |
ORPHA:98863 |
| Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Pulmonic stenosis, Low-set ears |
OMIM:613224 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Sensorineural hearing impairment, Umbilical hernia, Hypertrophic cardi... |
OMIM:612938 |
| Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy, Low-set ears |
OMIM:611554 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Congestive heart failure, Flexion contracture, Cardiomyopathy, Art... |
OMIM:616866 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Hearing impairment |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Patent foramen ovale |
OMIM:614582 |
| Usher Syndrome |
|
Abnormal vestibular function, Abnormal dental enamel morphology, Sensorineural hearing impairment... |
ORPHA:886 |
| Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Inguinal hernia, Abnormal atrioventricular valve physiolog... |
ORPHA:576 |
| Roifman Syndrome |
|
Recurrent otitis media, Noncompaction cardiomyopathy, Ventricular septal defect, Hip contracture |
OMIM:616651 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Sensorineural hearing impairment, Mitral regurgitation, Mitral valve prolapse |
OMIM:258450 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... |
OMIM:619705 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Orthostatic hypotension due to au... |
OMIM:105210 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Congestive heart failure, Hypertension... |
ORPHA:79083 |
| American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:3386 |
| Noonan Syndrome 7 |
|
Atrial septal defect, Large for gestational age, Large earlobe, Pulmonic stenosis, Low-set ears, ... |
OMIM:613706 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Posteriorly rotated ears, Low-set ears |
OMIM:611719 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Posteriorly rotated ears, Ventricular septal defect, Small for gestational age, Cardiomegaly, Fle... |
OMIM:616897 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, External ear malformation, Obesity, Weight loss, Hypertrophic ca... |
ORPHA:251071 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Refsum Disease |
|
Heart block, Cardiomyopathy, Sensorineural hearing impairment |
ORPHA:773 |
| Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Bundle branch block, Abnormal endocardium morphology, Abnormal... |
ORPHA:500 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy |
OMIM:616483 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Cardiomyopathy |
ORPHA:119 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
| Hurler Syndrome |
|
Aortic regurgitation, Inguinal hernia, Flexion contracture, Cardiomyopathy, Mitral regurgitation,... |
OMIM:607014 |
| Wolfram Syndrome 1 |
|
Cardiomyopathy, Sensorineural hearing impairment |
OMIM:222300 |
| Congenital Generalized Lipodystrophy |
|
Lipodystrophy, Congestive heart failure, Adipose tissue loss, Hypertrophic cardiomyopathy, Failur... |
ORPHA:528 |
| Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Failure to thrive |
OMIM:606054 |
| Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy |
OMIM:618437 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Congestive heart failure |
ORPHA:52430 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Ankle flexion contracture, Flexion contracture, Elbow flexion contracture, Hamstring contractures... |
ORPHA:206549 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
| Gm1 Gangliosidosis |
|
Inguinal hernia, Failure to thrive, Ventricular septal defect, Camptodactyly of finger, Congestiv... |
ORPHA:354 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... |
ORPHA:85443 |
| Vici Syndrome |
|
Cardiomyopathy, Sensorineural hearing impairment |
ORPHA:1493 |
| Noonan Syndrome 4 |
|
Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Large for gestational ... |
OMIM:610733 |
| Noonan Syndrome 2 |
|
Posteriorly rotated ears, Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophi... |
OMIM:605275 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... |
ORPHA:99901 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Sensorineural hearing impairment, Low-output congestive heart failure, Abnormal ... |
ORPHA:565612 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Hearing impairment |
OMIM:614922 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... |
OMIM:300952 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Cardiomyopathy, ... |
ORPHA:746 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Palpitations, Abnormal heart morphology |
OMIM:618250 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy |
ORPHA:27 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage, Failure to thrive |
OMIM:251000 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Vertigo, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
| Costello Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Abnormal dental enamel morphology, ... |
ORPHA:3071 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:611126 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Cardiomegaly, Congestive heart failure, Weight loss, Cardiomyopathy, Arrhyth... |
ORPHA:465508 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
| Acquired Generalized Lipodystrophy |
|
Abnormal cardiovascular system physiology, Generalized lipodystrophy, Cardiomyopathy, Hypertensio... |
ORPHA:79086 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... |
ORPHA:324 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... |
ORPHA:183 |
| Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Abnormal heart valve morphology, Congestive heart failure, Sensorineural hearing... |
ORPHA:579 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hypertrophic cardiomyopathy, Portal hypertension |
OMIM:619902 |
| Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Sensorineural hearing impairment, Flexion contracture, Cardiomyo... |
OMIM:253220 |
| Martsolf Syndrome 1 |
|
Inguinal hernia, Posteriorly rotated ears, Cardiac arrest, Congestive heart failure, Cardiomyopat... |
OMIM:212720 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Cardiomyopathy, Small earlobe, Obesity, Sensorineural hearing impairment |
ORPHA:98907 |
| Hurler Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Cardiomyopathy, Hypert... |
ORPHA:93473 |
| Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopath... |
OMIM:230500 |
| Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Sensorineural hearing impairment,... |
ORPHA:550 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
| Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy |
OMIM:617710 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:5 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Cardiomyopathy, Arrhythmia |
ORPHA:228305 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Failure to thrive, Flexion contracture |
OMIM:201470 |
| Mcleod Syndrome |
|
Cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation |
OMIM:300842 |
| Friedreich Ataxia |
|
Cardiomyopathy, Impaired visually enhanced vestibulo-ocular reflex, Hearing impairment |
ORPHA:95 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
| Arterial Tortuosity Syndrome |
|
Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Femoral herni... |
ORPHA:3342 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy, Macrotia, Small for gestational age |
OMIM:616051 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Congestive heart failure, Abnormal heart morphology, Cardiomyopathy, A... |
ORPHA:26791 |
| Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Abnormal odontoid tissue morphology, Low-set ears, Macrotia, Hearing impairment |
ORPHA:79255 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture |
OMIM:614462 |
| Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Tricuspid regurgitation, Flexion contracture, Cardiomyopathy, Mitral regurgitati... |
OMIM:253200 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... |
OMIM:615415 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Sudden cardiac death, Ca... |
OMIM:201475 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Sensorineural hearing impairment, Ventricular tachycardia, Torsade de pointes, Hy... |
OMIM:616878 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cardiomyopathy, Abnormal cardiac septum morphology, Abnormal pinna morphology, Hernia |
OMIM:217980 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Small for gestational age, Hypertension, Arrhythmia, Low-set ears, Umbilical her... |
OMIM:614052 |
| Congenital Enterovirus Infection |
|
Pericardial effusion, Cardiomyopathy, Myocarditis, Hypotension |
ORPHA:292 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cardiomyopathy |
ORPHA:370959 |
| Agel Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Hearing impairment |
ORPHA:85448 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Failure to thrive, Pericardial effusion, Abnormal subcutaneous fat tissue distribut... |
OMIM:212065 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Cardiomyopathy |
ORPHA:521411 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomyopathy, Failure to thrive |
OMIM:615895 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Hypoplastic right heart,... |
OMIM:617403 |
| Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Cardiomyopathy, Anotia, Abnormal cardiac septum morphology, Low-set ea... |
ORPHA:3338 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hypertrophic cardiomyopathy, Failure to thrive, Bilateral sensorineural hearing impairment |
ORPHA:436271 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy, Sensorineural hearing impairment |
OMIM:616084 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Cardiomyopathy |
ORPHA:329478 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:608594 |
| Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Inguinal hernia, Abnormal mitral valve morphology, Abnormal heart valve morphology,... |
ORPHA:580 |
| Noonan Syndrome 10 |
|
Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:616564 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment |
OMIM:607426 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy |
ORPHA:848 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Panniculitis, He... |
ORPHA:508542 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Failure to thrive |
OMIM:618329 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Inguinal hernia, Abnormal mitral valve morphology, Abnormal heart valve morphology,... |
ORPHA:217085 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Failure to thrive |
OMIM:220110 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Failure to thrive |
ORPHA:88618 |
| Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
| Vici Syndrome |
|
Failure to thrive, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiomyop... |
OMIM:242840 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Posteriorly rotated ears, Mitral valve prolapse, Pulmonic stenosis, Low-set... |
OMIM:619745 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy |
OMIM:619053 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Inguinal hernia, Abnormal mitral valve morphology, Abnormal heart valve morphology,... |
ORPHA:217093 |
| Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Absence of subcutaneous fat, Protruding e... |
ORPHA:33364 |
| Aicardi-Goutieres Syndrome 1 |
|
Cardiomyopathy, Vasculitis |
OMIM:225750 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Failure to thrive, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:71212 |
| Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Vertigo, Abnormal left ventricular function, Cardiomyopathy, ... |
ORPHA:892 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Increased connective tissue, Flexion contracture, Cardiomyopathy, Reduced left ventricular ejecti... |
ORPHA:258 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Cardiomyopathy, Epistaxis |
OMIM:203300 |
| Noonan Syndrome 3 |
|
Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Mitral valve prolapse,... |
OMIM:609942 |
| Leopard Syndrome 1 |
|
Bundle branch block, Posteriorly rotated ears, Complete atrioventricular canal defect, Sensorineu... |
OMIM:151100 |
| Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
| Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
| Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Sensorineural hearing impairment, Dilated cardiomyopathy, Weight ... |
OMIM:164310 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy |
ORPHA:445038 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:269700 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Cardiomyopathy, Atrial septal def... |
ORPHA:769 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... |
ORPHA:505248 |
| Cantú Syndrome |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Low-set ears |
ORPHA:572798 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Inguinal hernia, Posteriorly rotated ears, Ventricular septal defect, Large... |
OMIM:607721 |
| Isolated Complex I Deficiency |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Failure to thrive |
ORPHA:2609 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Cardiomegaly, Left ventricular outflow tract obstruction, Vasculitis, ... |
ORPHA:365 |
| Primary Hyperoxaluria |
|
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication, F... |
ORPHA:416 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cardiomyopathy, Failure to thrive, Increased body weight |
ORPHA:264580 |
| Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
| Cockayne Syndrome Type 3 |
|
Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Adult onset sensori... |
ORPHA:90324 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Dila... |
ORPHA:2556 |
| Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Cardiomyopathy, Dilatation of the ventricular cavity |
ORPHA:363623 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Cardiac conduction abnormality, Sensorineural hearing impairment, Dilated cardiomyopathy, Hypertr... |
ORPHA:255210 |
| Neutral Lipid Storage Myopathy |
|
Cardiomyopathy, Sensorineural hearing impairment, Congestive heart failure, Obesity |
ORPHA:98908 |
| Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Failure to thrive, Hypotension, Weight loss |
ORPHA:361 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age... |
ORPHA:363958 |
| Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Failure to thrive, Heart block, Cardiomyopathy, Abnormal cardi... |
ORPHA:175 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia, Failure to thrive |
ORPHA:2131 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Sensorineural hearing impairment |
ORPHA:3463 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Epistaxis, Weight loss, Cardiomyo... |
ORPHA:79430 |
| Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Bundle branch block, Prolonged QT interval, Inguinal hernia, V... |
ORPHA:373 |
| Zimmermann-Laband Syndrome 1 |
|
Posteriorly rotated ears, Cardiomyopathy, Low-set ears, Umbilical hernia, Hearing impairment |
OMIM:135500 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Arrhythmia |
ORPHA:157 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension, Ischemic stro... |
ORPHA:48435 |
| Yunis-Varon Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hy... |
ORPHA:3472 |
| Pearson Syndrome |
|
Small for gestational age, Cardiac conduction abnormality, Abnormal heart morphology, Cardiomyopa... |
ORPHA:699 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Atrial septal defect, Posteriorly rotated ears, Thickened helices, ... |
OMIM:607872 |
| Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
| Camurati-Engelmann Disease |
|
Cachexia, Abnormal subcutaneous fat tissue distribution, Hypertrophic cardiomyopathy, Slender bui... |
ORPHA:1328 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Cardiomyopathy, Posterior helix pit, Cardiomegaly |
OMIM:130650 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Failure to thrive in infancy, Sensorineural hearing impairment, Pulmon... |
OMIM:163950 |
| Costello Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Achilles tendon contracture, Mitral valve pr... |
OMIM:218040 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Anterior creases of ... |
OMIM:312870 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Bicuspid aortic valve, Mitral atresia, Small for gestational age, Aortic valve a... |
OMIM:220111 |
| Tyrosinemia, Type I |
|
Melena, Hypertrophic cardiomyopathy, Failure to thrive, Gastrointestinal hemorrhage |
OMIM:276700 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Protruding ear, Low-set ears, Decreased body weight, Hypertr... |
ORPHA:508 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Otosclerosis, Inguinal hernia, Congenital diaphragmatic hernia, Cardiomegaly, Large ... |
ORPHA:116 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology |
ORPHA:68 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Protruding ear, Mitral valve prolapse, Mitr... |
ORPHA:363700 |
| Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Sensorineural... |
OMIM:216340 |
| Limb Body Wall Complex |
|
Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida |
ORPHA:2369 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set, posteriorly rotated ears, Cardiomyopathy, Low-set ears, Atrial septal defect, Hearing im... |
ORPHA:480880 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
| Tetrasomy 9P |
|
Abnormal spinal cord morphology |
ORPHA:3310 |
| Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Angina pectoris, Abnormal pinna morphology, Lipodystro... |
ORPHA:79318 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
|
OMIM:619738 |
