Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Proximal muscle weakness in lower limbs, Gait imbalance, Weakness of facial musculature, Hip flex... |
ORPHA:63273 |
His Bundle Tachycardia |
|
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... |
OMIM:608099 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... |
ORPHA:602 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Dysphagia, Intrauterine growth retardation, Bradycardia, Patent duct... |
OMIM:616276 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Death in infancy, Br... |
OMIM:618815 |
Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... |
OMIM:617182 |
Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... |
OMIM:609200 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Dysphagia, Autophagic vacuoles, Facial diplegia, Posterior capsular cataract, EMG: myopathic abno... |
ORPHA:399058 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602087 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia, Cardiomyopathy |
OMIM:208750 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Gait disturbance, Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block... |
ORPHA:98912 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy, Cataract |
OMIM:225740 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... |
OMIM:602086 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Leg muscle stiffness, Distal lower limb muscle weakness, Difficulty walking, Supr... |
ORPHA:320360 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Death in infancy, Cardiomyopathy |
OMIM:212080 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Dysphagia, Supraventricular tachycardia, Cardiomyopathy, Fatty replacement of skeletal ... |
OMIM:255100 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Rimmed vacuoles, Flexion contracture, Scapular winging, Arrhythmia |
OMIM:300696 |
Nemaline Myopathy 11, Autosomal Recessive |
|
Facial palsy, Cardiomyopathy, Waddling gait, Scapular winging, Nemaline bodies |
OMIM:617336 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Dysphagia, Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnor... |
OMIM:609286 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy |
OMIM:115195 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy |
OMIM:115196 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy |
OMIM:613251 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Developmental cataract, Macroglossia, Retinal dystrophy, Facial palsy, Cardiomyopathy, Congenital... |
OMIM:613155 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... |
OMIM:614065 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Dystonia, Intrauterine growth retardation, Bradycardia |
OMIM:614654 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, Cardiomyopathy, EMG: myopathic abnormalities, Distal amyotrophy, ... |
ORPHA:98911 |
Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis |
OMIM:617222 |
Endocardial Fibroelastosis |
|
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy |
OMIM:226000 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... |
OMIM:616201 |
Long Qt Syndrome 16 |
|
T-wave alternans, Patent ductus arteriosus after birth at term, Prolonged QTc interval, Perimembr... |
OMIM:618782 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle atrophy, Peroneal muscle weakness, Dilated cardiomyopathy, Sudden cardiac death, ... |
OMIM:181350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrop... |
OMIM:619048 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia |
OMIM:300376 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... |
OMIM:619402 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy |
OMIM:609500 |
Myopathy, Myofibrillar, 2 |
|
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... |
OMIM:608810 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure |
OMIM:613255 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Death in infancy, Bradycardia, Cataract |
OMIM:617248 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Atrial fibrillation, Bradycardia, Muscular dystrophy, Arrhythmia |
OMIM:614302 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Pigmentary retinopathy |
OMIM:609016 |
Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility |
OMIM:607482 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration, Ventricular escape rhythm, Bradycardia, Keratoconus, Patent foramen ovale, ... |
ORPHA:542306 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... |
OMIM:108770 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Death in infancy, Intrauterine growth retardation, Cataract |
OMIM:616647 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, EMG: myopa... |
ORPHA:263297 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Macular dystrophy, Ataxia, Congestive heart failure, C... |
ORPHA:225 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Dysphagia, Facial palsy,... |
ORPHA:254886 |
Lipoyltransferase 1 Deficiency |
|
Dystonia, Death in infancy, Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Ventricular h... |
OMIM:212138 |
Myopathy, Distal, 1 |
|
Dilated cardiomyopathy, Toe extensor amyotrophy, Gait disturbance, Ragged-red muscle fibers, Faci... |
OMIM:160500 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex co... |
OMIM:611369 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Cardiomyopathy, Muscular dystrophy, Flexion contracture, Limb-girdle muscle weakness, Difficulty ... |
OMIM:609308 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... |
OMIM:612158 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse |
OMIM:614676 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, B... |
ORPHA:171442 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... |
OMIM:600858 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Steppage gait, Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy |
OMIM:612999 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Dysphagia, Skeletal muscle atrophy, Gait imbalance, Weakness of facial musculature, Limb muscle w... |
ORPHA:329336 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... |
ORPHA:34515 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Proximal amyotrophy, Dilated cardiomyopathy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... |
OMIM:604286 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Optic atrophy, Myopathy, Intrauterine growth retardation, Cardiomyopathy, Lethargy |
ORPHA:26792 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Death in infancy, Bradycardia, Flexion contracture |
OMIM:614498 |
Cardiomyopathy, Dilated, 1J |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... |
OMIM:605362 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance |
ORPHA:34587 |
Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... |
ORPHA:206546 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Dystonia, Difficulty walking |
OMIM:618222 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Bradykinesia, Ataxia, Death in childhood, Lethargy |
OMIM:618683 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... |
ORPHA:1345 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... |
ORPHA:45453 |
Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... |
OMIM:601005 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... |
ORPHA:75566 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... |
OMIM:608758 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Intrauterine growth retardation, Arrhythmia, Cardiomyopathy |
OMIM:616198 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Proximal amyotrophy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Left ventricular systoli... |
ORPHA:206559 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Optic atrophy, Dysphagia, Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, ... |
OMIM:258450 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... |
ORPHA:86812 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy,... |
OMIM:612937 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy, Asymmetric septal hypertrophy |
OMIM:212130 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Death in infancy |
OMIM:618235 |
Refsum Disease, Classic |
|
Retinal degeneration, Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Rod-cone dystrophy, Ata... |
OMIM:266500 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... |
OMIM:613873 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Sinus bradycardia, Skeletal muscle atrophy, Limb muscle weakness, Palpitations, Atrioven... |
OMIM:616812 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cataract, Cardiomyopathy |
OMIM:615352 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure, Retinopathy |
OMIM:618234 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture, Lethargy |
OMIM:201470 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Intrauterine growth retardation, Cardiomyopathy |
OMIM:616051 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Bradycardia, Cardiomyopathy, Con... |
OMIM:261740 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation |
OMIM:613874 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Ataxia, Cataract, Rod-cone dystrophy |
OMIM:614879 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Bradycardia, Umbilical hernia, Lethargy |
ORPHA:95717 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Cardiomyopathy, Ventricular hypertrophy, Atrial fibrillation |
OMIM:613690 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Cardiomyopathy, Dilated, 1Dd |
|
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death |
OMIM:613172 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Difficulty walking, Cardiomyopathy |
OMIM:610717 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... |
OMIM:255160 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness |
OMIM:606842 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Optic atrophy, Myopathy, Gait disturbance, Intrauterine growth retardatio... |
ORPHA:272 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613694 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Syncope, Congestive heart failure |
OMIM:613697 |
Cardiomyopathy, Dilated, 1L |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:606685 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Ventricular septal defect, Retinal degeneration, Situs inversus totalis, Cardiomyo... |
OMIM:249270 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Conotruncal defect, Atrioventricular canal defect, Bradycard... |
ORPHA:40366 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Lattice corneal dystrophy, Cardiomyopathy |
OMIM:105120 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Death in infancy, Intrauterine growth retardation, Cardiomyopathy, Flexion contracture |
OMIM:608540 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... |
OMIM:609452 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Concentric hypertrophic cardiomyopathy, Optic atrophy, Rod-cone dystrophy, Macular degeneration, ... |
OMIM:204200 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Waddling gait, Calf muscle hypertrophy, ... |
ORPHA:119 |
Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
Proximal Spinal Muscular Atrophy |
|
Dysphagia, Skeletal muscle atrophy, Triceps weakness, Weakness of facial musculature, Facial dipl... |
ORPHA:70 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Retinal degeneration, Cardiomyopathy, Pigmentary retinopathy |
OMIM:520000 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Lethargy |
OMIM:618228 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Weakness of facial musculature, Atrioventricular block, L... |
ORPHA:98909 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopath... |
OMIM:619424 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Abnormality of retinal pigmentation, Intrauterine growth retardation, Ven... |
ORPHA:2515 |
Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98853 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Cataract |
OMIM:617228 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613876 |
Salih Myopathy |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Cen... |
OMIM:611705 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Abnormal heart morpho... |
OMIM:614954 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Arrhythmia, Lethargy |
OMIM:602390 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Dystonia, Arrhythmia |
OMIM:614702 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... |
OMIM:618775 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia, Flexion contracture, Camptodactyly |
OMIM:610015 |
Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... |
ORPHA:85451 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Intrauterine growth retardation, Cardiomyopathy |
OMIM:619003 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation, Congestive heart failure |
OMIM:301021 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Death in adolescence,... |
OMIM:605676 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Atrioventricular block, Bradycardia, Truncal ataxia, Joint contracture of the 5th finger |
OMIM:614407 |
Infantile Refsum Disease |
|
Optic atrophy, Facial palsy, Cardiomyopathy, Rod-cone dystrophy, Ataxia, Cataract, Arrhythmia |
ORPHA:772 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis, Ataxia, Peroneal muscle weakness |
ORPHA:3129 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Inability to walk |
OMIM:617184 |
Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, ... |
OMIM:612954 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Lethargy |
ORPHA:254857 |
3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Optic atrophy, Prolonged QT interval, Noncompaction cardiomyopathy, Intra... |
OMIM:610198 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy... |
OMIM:602541 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Waddling gait, Congestive heart failu... |
OMIM:310200 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Myopathy, Dystonia, Intrauterine growth retardation, ... |
OMIM:618237 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... |
ORPHA:59135 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Death in infancy, Ataxia, Let... |
OMIM:614299 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Myopathy, Pericardial effusion, Atrioventricular block, Ven... |
OMIM:115197 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Atrioventricular block, Cardiomegaly, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Gait disturbance, Skeletal myopathy, Endocar... |
OMIM:302060 |
Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Gait disturbance, Abnormality of retinal pigmentation, Dystonia, Ske... |
ORPHA:96 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf ... |
ORPHA:263494 |
Coronary Arterial Fistula |
|
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal EKG, Aortic valve stenosis, Ab... |
ORPHA:2041 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... |
OMIM:613243 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... |
ORPHA:98855 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy |
OMIM:615119 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Dilated cardiomyopathy, Skeletal muscle atrophy, Macroglossia, Muscular dystro... |
OMIM:616827 |
Nemaline Myopathy 3 |
|
Dilated cardiomyopathy, Dysphagia, Limb muscle weakness, Facial palsy, EMG: myopathic abnormaliti... |
OMIM:161800 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Death in infancy |
OMIM:614096 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation |
OMIM:618243 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Cardiomyopathy, Waddling gait, Calf muscle hypertrophy, Flexion contracture |
ORPHA:98896 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy |
ORPHA:868 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Skeletal muscle hypertrophy, Abnormality iris morphology, Macroglossia, Optic nerv... |
ORPHA:370959 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... |
ORPHA:99105 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Myopathy, Temporal optic disc pallor, Cardiomyopathy, Ataxia, Abnormal retinal ner... |
ORPHA:1215 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Astigmatism |
OMIM:617713 |
Hec Syndrome |
|
Developmental cataract, Endocardial fibroelastosis, Cardiomyopathy, Abnormal pupil morphology, Ab... |
ORPHA:2119 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Lethargy |
ORPHA:276556 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Myopathy |
OMIM:618236 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Iris hypopigmentation, Cataract |
ORPHA:67048 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:611880 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:613881 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Generalized amyotrophy,... |
OMIM:300257 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... |
ORPHA:563 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Developmental cataract, Myopathy |
OMIM:212350 |
Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Pigmentary retinopathy, Skeletal muscle atrophy, Noncompaction cardi... |
ORPHA:3208 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy, Retinal detachment, Corneal opacity, Cataract, ... |
OMIM:613153 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Death in infancy, Reduced ejection fraction, Mitral regurgitation, Pulmon... |
OMIM:619371 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... |
OMIM:615418 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300718 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia, Patent ductus arteriosus, Lethargy |
OMIM:617397 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Limb hypertonia, Intrauterine growth retardation, Bradycardia, Loss of ability... |
ORPHA:565624 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Lethargy |
ORPHA:276575 |
Necrotizing Enterocolitis |
|
Shock, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy |
ORPHA:391673 |
Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction |
OMIM:618189 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Cardiomyopathy, Waddling g... |
ORPHA:52430 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Bradycardia, Umbilical hernia, Lethargy |
ORPHA:95716 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Dystonia, Optic disc pallor, Mitral regurgitation, Neonatal death, Left v... |
OMIM:619167 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonary insufficiency, Death in infancy, Restrictive cardiomyopathy, Tricuspid regurgitation, P... |
OMIM:619433 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Death in infancy |
OMIM:604377 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Congestive heart failure, Difficulty walking, ... |
ORPHA:324588 |
Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... |
ORPHA:217607 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Lethargy |
ORPHA:276580 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Optic atrophy, Ventricular septal defect, Dystonia, Progressive cere... |
ORPHA:255241 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ataxia, Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618229 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Retinal degeneration, Rod-cone dystrophy, Atrial s... |
OMIM:615981 |
Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... |
ORPHA:439232 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on ... |
OMIM:145350 |
Cardiomyopathy, Dilated, 1X |
|
Dilated cardiomyopathy |
OMIM:611615 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dystonia, Ataxia, Lethargy |
OMIM:246900 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia, Cataract |
OMIM:606069 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Myopathy |
OMIM:610140 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Gait... |
ORPHA:1349 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Myopathy, Cardiomyopathy, Distal amyotrophy |
OMIM:232400 |
Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
Cyclic Vomiting Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Cardiomyopathy, Lethargy |
OMIM:500007 |
Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Congestive heart failure, Facial myokymia |
OMIM:606703 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypertrophic cardiomyopathy, Death in infancy, Intrauterine growth retardation, Abnormal aortic v... |
ORPHA:1194 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Mitral regurgitation, Marked muscular hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Joint... |
OMIM:300280 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Duchenne And Becker Muscular Dystrophy |
|
Hypertrophic cardiomyopathy, Gait disturbance, Myopathy, Skeletal muscle atrophy |
ORPHA:262 |
Tetanus |
|
Hypertension, Dysphagia, Bradycardia, Tachycardia |
ORPHA:3299 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Reduced muscle c... |
OMIM:212140 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Dysphagia, Abnormal heart morphology, Ataxia, Inability to walk, Gen... |
ORPHA:70472 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Optic atrophy, Gait disturbance, Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Ataxia, Cong... |
OMIM:619259 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Ventricular septal defect, Abnormality of blood circulation, Biventricular ... |
ORPHA:860 |
Pseudoxanthoma Elasticum |
|
Hypertension, Mitral valve prolapse, Retinal hemorrhage, Renovascular hypertension, Angioid strea... |
OMIM:264800 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Athetosis, Optic atrophy, Dystonia, Limb hypertonia, Skeletal muscle atrophy, Intrauterine growth... |
OMIM:617710 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Dysphagia, Prolonged QT interval, Skeletal muscle hypertrophy, Atrial fibrillation, Tachycardia, ... |
OMIM:613327 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Intrauterine growth retardation, Facial hypotonia, Bradycardia, Cardiomegaly, Inab... |
ORPHA:97297 |
Hurler-Scheie Syndrome |
|
Abnormal heart valve morphology, Corneal opacity, Cardiomyopathy |
ORPHA:93476 |
Mitochondrial Trifunctional Protein Deficiency |
|
Mitral regurgitation, Skeletal myopathy, Cardiomyopathy, Tricuspid regurgitation, Left ventricula... |
ORPHA:746 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Optic disc pallor, Cataract |
ORPHA:3173 |
Illum Syndrome |
|
Calcinosis, Bradycardia, Arthrogryposis multiplex congenita |
OMIM:208155 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... |
OMIM:618920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... |
OMIM:609040 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Abnormal aortic valve... |
ORPHA:3287 |
Gm1 Gangliosidosis |
|
Optic atrophy, Aplasia/Hypoplasia of the abdominal wall musculature, Retinopathy of prematurity, ... |
ORPHA:354 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation |
ORPHA:295 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Bradycardia, Umbilical hernia |
ORPHA:226313 |
Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy |
OMIM:302045 |
Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy |
OMIM:611879 |
Cardiomyopathy, Dilated, 1W |
|
Dilated cardiomyopathy |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy |
OMIM:612877 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Cc |
|
Dilated cardiomyopathy |
OMIM:613122 |
Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy |
OMIM:613252 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy |
OMIM:615235 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Corneal scarring, Bradycardia, Tachycardia, Flexion contracture |
OMIM:614653 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Retinal dysplasia, Congenital muscular dystrophy, Coloboma, Ocular anteri... |
ORPHA:324416 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Dysphagia, Skeletal muscle atrophy, Tachycardia, Glycogen accumulati... |
ORPHA:368 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Cardiomyopathy, Heart block, Ataxia... |
ORPHA:773 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Dysphagia, Generalized amyotrophy, Arthrogryposis multiplex congenita, Cardiomyopathy, Patent duc... |
OMIM:616866 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Lethargy, Abnorm... |
ORPHA:1329 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris |
ORPHA:53296 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Dysphagia, Weakness of facial muscula... |
ORPHA:352447 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis |
OMIM:607685 |
Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Optic atrophy, Optic disc pallor |
OMIM:612989 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia, Lethargy |
ORPHA:156 |
Cardiomyopathy, Dilated, 2B |
|
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation |
OMIM:614672 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ragged-red muscle fibers, Cardiomyopathy, Ataxia, Pigmentary... |
OMIM:530000 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Cherry red spot of the macula, Dysmetria, Cardiomegaly, Cardiomyopathy, ... |
OMIM:256550 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:618378 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Ataxia, Inability to walk, Distal amyotrophy |
OMIM:617183 |
Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Gait distu... |
ORPHA:732 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Degenerative vitreore... |
OMIM:607598 |
Collagenoma, Familial Cutaneous |
|
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Iris atrophy, Vasculitis, Congestiv... |
OMIM:115250 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Macroglossia, Achilles tendon contracture,... |
OMIM:607155 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Retinal degeneration |
OMIM:616896 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Optic nerve hypoplasia, Spastic gait, Corneal opacity... |
ORPHA:496790 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Skeletal muscle atrophy, Facial diplegia, Neonatal death, Arthrogryposis multiplex cong... |
OMIM:611890 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration |
OMIM:300438 |
Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular hypertrophy, Pulmonary ... |
OMIM:619051 |
Hemochromatosis, Type 2B |
|
Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus |
OMIM:126320 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia |
OMIM:619272 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Optic atrophy, Gait disturbance, Dystonia, Ventricular tachycardia, ... |
OMIM:616878 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Atrial fibrillation, Mitral regurg... |
ORPHA:75249 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Akinesia, Increased variabi... |
OMIM:619334 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Dysphagia, Pulmonic stenosis |
ORPHA:638 |
Friedreich Ataxia |
|
Optic atrophy, Dysphagia, Dystonia, Gait imbalance, Dysmetria, Falls, Cardiomyopathy, Inability t... |
ORPHA:95 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Coloboma, Microcornea, Macular atrophy |
OMIM:602499 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Peters anomaly, Tricuspid regurgitation, Patent ductus a... |
OMIM:618652 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Myopathy, Cardiomyopathy, Flexion contracture |
OMIM:616549 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Optic atrophy, Cardiomyopathy, Lethargy |
ORPHA:79312 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Rhabdomyolysis, Gait imbalance, Lethargy |
OMIM:618120 |
Alg3-Cdg |
|
Dystonia, Neural tube defect, Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, C... |
ORPHA:79321 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis |
OMIM:300842 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dysphagia, Optic disc pallor, Retinal degeneration, Abnormal heart morphology, Tachycardia, Loss ... |
ORPHA:79264 |
Vici Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Death in infancy, Cardiomyopathy, Cataract, A... |
ORPHA:1493 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Death in infancy, Ebstein anomaly of the tricuspid valve, Death in childh... |
OMIM:619492 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:614462 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Death in infancy, Lethargy |
OMIM:619386 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Ataxia, Cardiomyopathy, Lethargy |
ORPHA:2394 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... |
OMIM:616501 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Abnormal cardiac septum morphology, Patent ductus arteriosus |
OMIM:601612 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy, Intrauterine growth retardation, Cardiomyopathy |
OMIM:618839 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... |
OMIM:600996 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Dysphagia, Dystonia, Retinal degeneration, Cardiomega... |
ORPHA:391428 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Ataxia, Cardiomyopathy, Lethargy |
ORPHA:27 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis |
OMIM:618499 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Skeletal myopathy, Coronary artery stenosis, Palpitations, Low-ou... |
ORPHA:565612 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Telangiectasia, Optic atrophy, Telangiectasia of the skin, Generaliz... |
ORPHA:79279 |
Neuroleptic Malignant Syndrome |
|
Hypertension, Dysphagia, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Oculo... |
ORPHA:94093 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Dysphagia, Generalized amyotrophy |
OMIM:613561 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Death in infancy, Reduced ejection fraction, Cardiomegaly, Sudden ca... |
OMIM:201475 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function, Cataract, Broad-based gait |
OMIM:618805 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation |
OMIM:615184 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ataxia, Death in infancy, Cardiomyopathy |
OMIM:619046 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Death in infancy |
OMIM:611719 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... |
ORPHA:75565 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia, Lethargy |
ORPHA:83600 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Truncus arteriosus, Situs inversus totalis, Stillbirth, Pulmonic ste... |
OMIM:615415 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... |
ORPHA:99827 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... |
OMIM:613426 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Bradycardia, Umbilical hernia, Lethargy |
ORPHA:90673 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Arrhythmia |
ORPHA:228305 |
Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis,... |
OMIM:615382 |
Wolfram Syndrome 1 |
|
Optic atrophy, Dysphagia, Cardiomyopathy, Ataxia, Pigmentary retinopathy |
OMIM:222300 |
Cardiac Diverticulum |
|
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Pa... |
ORPHA:1686 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Shock, Dysphagia, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Roifman Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Noncompaction cardiomyopathy, Hip con... |
OMIM:616651 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly, Lethargy |
OMIM:600649 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy, Amyloid depos... |
OMIM:105210 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Ataxia, Neonatal death, Retinal atrophy, Rod-cone dystrophy |
OMIM:610127 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Gait disturbance, Athetosis, Inability to walk |
OMIM:618241 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dysphagia, Skeletal muscle atrophy, Abnormal heart morphology, Increased intramyocellular lipid d... |
ORPHA:26791 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Dystonia, Death in infancy, Cardiomyopathy, Ataxia, Lethargy |
OMIM:618321 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Pseudobulbar paralysis, Epistaxis, Tachycardia, Cerebral ischemia, Cardi... |
ORPHA:449285 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Cataract |
OMIM:273680 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy, Death in infancy, Cardiomyopathy, Lethargy |
OMIM:614922 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Congenita... |
ORPHA:137675 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Ataxia, Congestive heart fai... |
OMIM:229300 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Neonatal death, Truncus arteriosus |
OMIM:228940 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Intrauterine growth retardation, Double outlet right ventricle, Pulmon... |
OMIM:220210 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy, Intrauterine growth retardation |
OMIM:618835 |
Agel Amyloidosis |
|
Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic dysfunction, Facial palsy, C... |
ORPHA:85448 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Athetosis, Dysphagia, Limb hypertonia, Intrauterine growth retardation, Dysmetria, Generalized am... |
ORPHA:572798 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... |
ORPHA:99103 |
Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Myopathy, Congestive heart failure, Pigmentary retinopathy, Rhabdomyolysi... |
OMIM:609015 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Ventricular septal defect, Tachycardia, Patent ductus arteriosus, Atrial septal def... |
OMIM:613870 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... |
ORPHA:444013 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy, Ataxia, Ragged-red muscle fibers, Rod-cone dystrophy |
OMIM:607426 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:235200 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Ventricular tachycardia, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Hypotension |
ORPHA:159 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Ataxia |
OMIM:617757 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Cardiomyopathy, Proximal muscle weakness in upper limbs, Cataract, Dilatation of the ventricular ... |
ORPHA:363623 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Bradycardia, Attention deficit hyperactivity disorder, Umbilical hernia, Lethargy |
ORPHA:90674 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic atrophy, Optic disc pallor, Cardiomyopathy |
OMIM:618437 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy |
OMIM:613673 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Optic neuropathy, Optic atrophy, ... |
OMIM:610505 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Retinal dystrophy, Intrauterine growth retardation, Hip contracture |
ORPHA:353298 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... |
ORPHA:26793 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ventricular septal defect, Histiocytoid cardiomyopathy, Sclerocornea, Congenital diaphragmatic he... |
OMIM:309801 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Myopathy, Increased intramyocellular lipid droplets, Shoulder girdle muscle weakness, EMG: myopat... |
ORPHA:98907 |
Polyarteritis Nodosa |
|
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon |
ORPHA:767 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Patent ductus arter... |
OMIM:615355 |
Hurler Syndrome |
|
Retinal degeneration, Mitral regurgitation, Aortic regurgitation, Endocardial fibroelastosis, Car... |
OMIM:607014 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Retinopathy, Chorioretinal atro... |
ORPHA:5 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Intrauterine growth retard... |
OMIM:230500 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Decreased muscle mass, Elevated jugular venous pressure, Cardiomegaly, Cardiomyopathy, Congestive... |
ORPHA:465508 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Lethargy |
OMIM:616483 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy |
OMIM:604250 |
Usher Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Abnormality of retinal pigmentation, Ataxia, Abnormal card... |
ORPHA:886 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Dysphagia, Absent muscle fiber merosin, Reduced ejection fraction, Myositis, Macroglossia, Pulmon... |
ORPHA:258 |
Mucopolysaccharidosis Type 2 |
|
Hypertension, Abnormality of retinal pigmentation, Optic atrophy, Retinal degeneration, Umbilical... |
ORPHA:580 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Ataxia |
OMIM:604273 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Alg1-Cdg |
|
Abnormal heart morphology, Cardiomyopathy |
ORPHA:79327 |
Oculopharyngodistal Myopathy 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysphagia, Autophagic vacuoles, Facial palsy... |
OMIM:164310 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Quadriceps muscle weakness, Lethargy, Gait distur... |
ORPHA:254892 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hypertension, Telangiectasia, Weakness of facial musculature, Cardiomyopathy, Raynaud phenomenon,... |
ORPHA:247691 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:615279 |
Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation |
OMIM:300590 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Dystonia, Dysphagia, Skeletal muscle atrophy, Ataxia, Cataract, Arrh... |
OMIM:615471 |
Glycogen Storage Disease Iv |
|
Cardiomyopathy, Portal hypertension, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:232500 |
Primary Lipodystrophy |
|
Hypertension, Myopathy, Skeletal muscle hypertrophy, Cardiomyopathy, Congestive heart failure, An... |
ORPHA:90970 |
American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:3386 |
Leigh Syndrome With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Optic atrophy, Dysphagia, Dystonia, Mitral r... |
ORPHA:70474 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Dysphagia, Gait disturbance, Myositis, En... |
ORPHA:183 |
Juvenile Dermatomyositis |
|
Dysphagia, Calcinosis, Pericarditis, Myositis, Telangiectasia of the skin, Cardiomyopathy, Bundle... |
ORPHA:93672 |
Melas |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal mitochondria in muscle t... |
ORPHA:550 |
Fetal Gaucher Disease |
|
Death in infancy, Intracranial hemorrhage, Neonatal death, Stillbirth, Arthrogryposis multiplex c... |
ORPHA:85212 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Lethargy, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Hurler Syndrome |
|
Hypertension, Death in infancy, Macroglossia, Endocardial fibroelastosis, Cardiomyopathy, Corneal... |
ORPHA:93473 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
Von Hippel-Lindau Disease |
|
Myocarditis, Hypertension, Retinal capillary hemangioma, Palpitations, Cardiomyopathy, Macular ed... |
ORPHA:892 |
Vici Syndrome |
|
Dilated cardiomyopathy, Developmental cataract, Myopathy, Ocular albinism, Hypopigmentation of th... |
OMIM:242840 |
Pseudoxanthoma Elasticum |
|
Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, Angina pectoris, Angioid st... |
ORPHA:758 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Tra... |
ORPHA:91495 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Optic atrophy, Dystonia, Prolonged QT interval, Intrauterine growth retar... |
ORPHA:66634 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood |
OMIM:614582 |
Propionic Acidemia |
|
Dystonia, Limb hypertonia, Cerebellar hemorrhage, Cardiomyopathy, Lethargy |
OMIM:606054 |
Marburg Hemorrhagic Fever |
|
Conjunctival hyperemia, Shock, Lethargy, Pericarditis, Subconjunctival hemorrhage, Tachycardia, B... |
ORPHA:99826 |
Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal cardiac ventricle morphology, Abnormal P wave, Dysphagia, M... |
ORPHA:85443 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Conjunctival hyperemia, Hypertrophic cardiomyopathy, Scissor gait, Facial diplegia, Dysmetria, Sp... |
OMIM:619121 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Ragged-red muscle fibers, Progressive gait ataxia, Muscle fiber necrosis,... |
OMIM:607459 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Optic atrophy, Skeletal muscle atrophy, Retinal dysplasia, Congenital mus... |
OMIM:253800 |
8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Atrioventricular canal defect, Cong... |
ORPHA:251071 |
Congenital Fibrinogen Deficiency |
|
Developmental cataract, Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy,... |
ORPHA:335 |
Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal endoc... |
ORPHA:500 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Neonatal death |
OMIM:245650 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation |
OMIM:300952 |
Fabry Disease |
|
Hypertrophic cardiomyopathy, Hypertension, Optic atrophy, Abnormal endocardium morphology, Mitral... |
ORPHA:324 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Optic atrophy, Ragged-red muscle fibers, Dys... |
ORPHA:255210 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Developmental cataract, Neonatal death |
OMIM:618810 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Weakness of facial musculature, Increased intramyocel... |
OMIM:220110 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|