Gene: Lmod2 MGI:2135672

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

leiomodin 2 (cardiac)

Synonyms:

C-Lmod

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lmod2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Lmod2 (2 diseases)
Human diseases predicted to be associated with Lmod2 (1053 diseases)

The table below shows human diseases associated to Lmod2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Familial Isolated Dilated Cardiomyopathy		Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Cardiomyopathy, Dilated, 2G		Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897

The table below shows human diseases predicted to be associated to Lmod2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Left v...	OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo...	OMIM:608099
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,...	OMIM:181350
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I...	OMIM:611880
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613122
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Cardiomyocyte mitoch...	OMIM:616500
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:611615
Barth Syndrome	Endocardial fibroelastosis, Dilated cardiomyopathy, Abnormal mitochondrial morphology	ORPHA:111
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic...	OMIM:613255
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Respiratory distress, Myopathy, Decreased body weight, Type 1 fibers rela...	OMIM:300580
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy, Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness,...	OMIM:619903
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tip-toe gait, Tibialis anterior...	OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ...	OMIM:604286
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Decreased circulating carnitine concentration	OMIM:611283
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa...	ORPHA:63273
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Difficulty walking, Inability to walk, Re...	ORPHA:206559
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber...	ORPHA:34515
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Noncompaction cardiomyopathy...	OMIM:610198
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li...	ORPHA:171442
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird...	ORPHA:263494
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,...	ORPHA:75566
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Combined Oxidative Phosphorylation Deficiency 23	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:616198
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card...	ORPHA:59135
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Ortho...	ORPHA:563
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive, Congestive heart failure, Hype...	OMIM:614096
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Palpitations, Syncope, Dyspnea, Sudden ...	OMIM:610476
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failur...	OMIM:310200
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven...	OMIM:115197
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Calf musc...	OMIM:616827
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Slend...	ORPHA:399103
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Respiratory distress, Episodic tachypnea, Obesity...	ORPHA:26793
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Myopathy, Low-output conges...	ORPHA:91130
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Combined Oxidative Phosphorylation Deficiency 38	Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Abnormal m...	OMIM:618378
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re...	ORPHA:99105
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Congestive heart failure, Difficulty walking, Facial myokymia, Limb hyper...	ORPHA:324588
Congenital Myopathy 2A, Typical, Autosomal Dominant	Nemaline bodies, Dilated cardiomyopathy, Slender build, Type 1 muscle fiber predominance, Limb mu...	OMIM:161800
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:301075
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m...	OMIM:252011
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:98855
Desminopathy	Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Difficu...	ORPHA:98909
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Decreased circulating carnitine concentration, Pulmonic stenosis	ORPHA:79159
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy	OMIM:300376
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath...	OMIM:619424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w...	ORPHA:98912
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Mit...	OMIM:602541
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Tachypnea, Arrhythmia, Orthopnea, Atrial septal def...	ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert...	OMIM:620236
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:98853
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Letha...	OMIM:602390
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Steppage g...	OMIM:600334
Ethanolaminosis	Cardiomegaly	OMIM:227150
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc...	ORPHA:457050
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Leg muscle stiffness, Cardiomyopathy, Difficulty walking, Distal lower limb muscle weakness, Supr...	ORPHA:320360
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Orthopnea, Systolic heart...	ORPHA:3092
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Myopathy, Distal, 4	Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di...	OMIM:614065
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy	OMIM:609500
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr...	ORPHA:263297
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc...	ORPHA:732
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Apnea, Left ventricular hyp...	OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Dyspnea, Facia...	OMIM:615084
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Arrhy...	OMIM:540000
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkins...	OMIM:618234
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Cardiomyopathy, Respiratory distress, Myopathy, Lethargy	ORPHA:26792
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, L...	OMIM:613561
Classic Multiminicore Myopathy	Muscular dystrophy, Right ventricular failure, Failure to thrive, Congestive heart failure, Noctu...	ORPHA:324604
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Cachexia, Gait disturban...	ORPHA:157973
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr...	OMIM:300696
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd...	OMIM:607554
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Shoulder girdle muscle weakness, Diffic...	OMIM:607155
Multifocal Atrial Tachycardia	Atrial fibrillation, Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophi...	ORPHA:3282
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Failure to thrive, Type 1 fib...	OMIM:255310
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, Difficulty walking, Multiple joint contractures, Abnormal musc...	ORPHA:98911
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Tachypnea, Elevat...	ORPHA:1329
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Cardiomyopathy, Supraventricular tachycardia, Decreased activity of mitochondrial complex IV, Myo...	OMIM:255100
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block	ORPHA:871
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Ri...	ORPHA:99106
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Arrhy...	ORPHA:352447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy	OMIM:609016
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy, Decreased body weight	OMIM:618097
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Muscular dystrophy, Generalized limb muscle atrophy, Hypoglycosylation of alpha-dystroglycan, Joi...	OMIM:615351
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Carnitine Deficiency, Systemic Primary	Failure to thrive, Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic c...	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Failure to thrive, Congestive heart failure	OMIM:615440
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula...	ORPHA:45452
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti...	ORPHA:860
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in l...	OMIM:619566
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con...	OMIM:615959
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Congestive heart failure, Facial myokymia, Limb hypertonia, Choreoathetosis	OMIM:606703
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Decreased activity of mitochondrial ATP syntha...	OMIM:618120
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Cardiomyopathy, Limb muscle weakness, Dyspnea, Global systolic dysfunction	OMIM:606842
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Hepatomegaly, P...	ORPHA:422
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Gait disturbance, ...	ORPHA:272
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Apnea, Arrhythmia,...	ORPHA:1055
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ...	OMIM:253700
Sandhoff Disease	Failure to thrive, Congestive heart failure, Splenomegaly, Ataxia, Hepatomegaly	ORPHA:796
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure	ORPHA:2022
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular...	OMIM:619167
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers, Congestive heart failure	OMIM:616794
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur...	OMIM:613426
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit...	OMIM:310300
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio...	ORPHA:398124
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li...	OMIM:608358
Cardiomyopathy Associated With Myopathy And Sudden Death	Asymmetric septal hypertrophy, Myopathy	OMIM:212130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Cardiomyopathy, Difficulty walking, Limb-girdle muscle weakness, Hypoglycosyl...	OMIM:609308
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Cardiomegaly, Lethargy, Ventricular tachycardia, Hepatomegaly	OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype...	OMIM:619402
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Skeletal muscle atrophy, Failure to thrive, Congestive heart failure, Res...	ORPHA:367
Congenital Myopathy 24	Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ...	OMIM:617336
Gaucher Disease Type 2	Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Cardiac arrest...	ORPHA:77260
Dk1-Cdg	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Cardiomyocyte hypertrophy, I...	ORPHA:91131
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi...	ORPHA:206569
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Ventricular fibrillation, Increased myocardial glycogen cont...	OMIM:261740
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Rhabdomyolysis, Myopathy, Ar...	OMIM:609015
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Orthopnea, Right atrial enlar...	ORPHA:99103
Combined Oxidative Phosphorylation Defect Type 23	Paroxysmal dyspnea, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Sev...	ORPHA:444013
Rett Syndrome	Skeletal muscle atrophy, Abnormal T-wave, Apnea, Gait ataxia, Intermittent hyperventilation, Cach...	OMIM:312750
Myopathy And Diabetes Mellitus	Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Tip-toe gait, Shoulder gird...	ORPHA:2596
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Steppage gait, Cardiomyopathy	OMIM:610100
Atrial Standstill 1	Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra...	OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Neonatal death, Decr...	OMIM:617184
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia, Ataxia	OMIM:266500
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Lethargy, Atr...	ORPHA:49827
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef...	OMIM:613876
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex ...	OMIM:614299
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Dilated cardiomyopathy, Failure to thrive in infancy, Reduced systolic function...	OMIM:618805
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Barth Syndrome	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:302060
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Biventricular hypertrophy...	OMIM:613243
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ...	OMIM:607598
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ataxia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Bronchopulmonary Dysplasia	Small for gestational age, Right ventricular failure, Respiratory distress, Central apnea, Dyspne...	ORPHA:70589
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology	OMIM:300438
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Myopathy, Myofibrillar, 4	Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto...	OMIM:609452
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Respi...	OMIM:614399
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a...	OMIM:164310
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Nathalie Syndrome	Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Arrhythmia, Lethargy, ...	ORPHA:254913
Glycogen Storage Disease Xv	Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric...	OMIM:613507
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom...	OMIM:615352
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased variability in muscle fiber diameter, Skeletal muscle atrophy	ORPHA:238329
Familial Hyperaldosteronism Type Iii	Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten...	ORPHA:251274
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb...	ORPHA:171439
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Congestive heart failur...	OMIM:620609
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Dilated cardiomyopathy, Muscular ventricular septal defect, Ataxia, Pr...	ORPHA:66634
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode...	OMIM:605809
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Splenomegaly, Pulmonary ...	ORPHA:2414
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypertrophic cardiomyopathy, Torsade de pointes, Gait ataxia, Rhabdomyolysis, Ventricular tachyca...	OMIM:616878
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Respiratory distress, Hypertrophic cardiomyopathy...	OMIM:604377
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Left ventricular hypertrophy, Flexion contracture, Hypertension, Small for ...	OMIM:616733
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula...	OMIM:613874
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Limb ataxia, Limb muscle weakness, Gait ataxia, Cardiom...	OMIM:619259
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Type 2 muscle fiber atrophy, Apneic episodes precipitated by illness, fatig...	OMIM:254210
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Stuve-Wiedemann Syndrome 2	Respiratory distress, Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure	OMIM:619751
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopat...	ORPHA:70472
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex	OMIM:614053
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart...	ORPHA:52430
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,...	ORPHA:99901
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Muscular dystrophy, Elbow flexion contracture, Loss of ambulation, Arrhythmia, Gait disturbance, ...	OMIM:616516
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cardiomyopathy, Congestive heart failure	OMIM:613313
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy	ORPHA:79230
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscl...	ORPHA:746
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de...	OMIM:616866
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level	OMIM:231530
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Ataxia	OMIM:619099
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ...	OMIM:212112
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle...	ORPHA:1143
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Abnormal pulmonar...	ORPHA:1194
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss	ORPHA:85447
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Respiratory distress, Splenomegaly, Lethargy, Hepatomegaly, Ch...	ORPHA:79312
Dystonia 23	Arrhythmia, Gait disturbance, Torticollis	OMIM:614860
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Biventricular hypertrophy, Decreased activity of mitochondrial compl...	OMIM:618236
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Broad-based gait, Cardiomyopathy, Difficulty walk...	ORPHA:119
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Autosomal Dominant Progressive External Ophthalmoplegia	Limb muscle weakness, Myopathy, Arrhythmia, Ataxia, Hypomimic face, Bradykinesia, Quadriceps musc...	ORPHA:254892
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Systolic heart mur...	ORPHA:2299
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal tendon morphology, Cong...	ORPHA:85446
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Hepatom...	ORPHA:254864
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Failure to thrive, Decreased muscle mass, Congestive heart failure, Atrial septal defect, Facial ...	ORPHA:500533
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Achalasia, Myoc...	ORPHA:3386
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val...	ORPHA:1880
Infantile Sialic Acid Storage Disease	Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly	OMIM:269920
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Shortened PR ...	ORPHA:308552
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Lethargy, Prolonged QT in...	ORPHA:71212
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven...	OMIM:615616
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Foot dorsiflexor...	OMIM:620011
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Myopathy, Rhabdomyolysis, Hepatomegaly, Atr...	OMIM:300842
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	ORPHA:868
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive, Cardiomyopathy	OMIM:613752
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:248360
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Hereditary Butyrylcholinesterase Deficiency	Myocardial infarction, Congestive heart failure	ORPHA:132
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric...	OMIM:314400
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Azoospermia, Ischemic stroke, Cerebral hemorrhage, Hypertension	ORPHA:280679
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Arrhythmia	OMIM:618453
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Pal...	ORPHA:565612
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod...	OMIM:616201
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio...	ORPHA:99104
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve...	OMIM:620519
Aorto-Ventricular Tunnel	Abnormal heart valve morphology, Ventricular hypertrophy, Heart murmur, Congestive heart failure	ORPHA:3400
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Left ventricular hypertrophy, Failure to thrive	OMIM:616974
Drug-Induced Lupus Erythematosus	Dyspnea, Prolonged QTc interval, Pericardial effusion, Pericarditis	ORPHA:231111
Ethylene Glycol Poisoning	Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Episodic respirato...	ORPHA:31826
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Decreased activity of mitochondrial complex ...	OMIM:611126
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper...	OMIM:115195
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Respiratory distress, Inability to walk, Weakness of ...	ORPHA:596
Pleural Mesothelioma	Dyspnea, Respiratory distress, Abnormal cardiovascular system physiology, Weight loss, Hepatomegaly	ORPHA:50251
Mitochondrial Dna-Associated Leigh Syndrome	Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Apnea, Gait ataxia, Cardi...	ORPHA:255210
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Loss of ambulation, Facial ...	OMIM:603511
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Decreased ac...	OMIM:620135
Morbid Obesity And Spermatogenic Failure	Obesity, Hypertension, Myocardial infarction, Congestive heart failure	OMIM:615703
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Weight loss	ORPHA:141152
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Failure to thrive, Congestive heart failure	OMIM:616045
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Lower limb muscle weakness, Obesity, Palpitations, Rhabdomy...	ORPHA:79102
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Progressive cerebellar ataxia, Lower limb muscle weakness, Lower limb hypertonia, Abnormal EKG, P...	ORPHA:1177
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Broad...	OMIM:607459
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat...	OMIM:620300
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:98863
Perching Syndrome	Respiratory distress, Camptodactyly, Joint contracture	OMIM:617055
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Respiratory distress, Prolonged QRS complex, Ischemic s...	ORPHA:90068
Spastic Paraplegia Type 7	Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitoch...	ORPHA:99013
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Ragged-red muscle fibers, Left ven...	OMIM:615418
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert...	OMIM:616501
Autoimmune Hypoparathyroidism	Dyspnea, Ventricular arrhythmia, Prolonged QT interval, Abnormal left ventricular function	ORPHA:36913
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ...	ORPHA:75249
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ...	OMIM:614921
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal...	ORPHA:465508
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Tetralogy of Fallot,...	ORPHA:980
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly	OMIM:607685
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Abnormal left ventricular function, Cardiomyopathy, Inability to walk, Calf m...	OMIM:613155
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Splenomegaly, Cardiomegaly, Telangiectasia, Arrhythmia,...	OMIM:235200
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Cardiomyocyte hypertrophy, V...	OMIM:605676
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Abnormal EKG, Arrhythmia, Ataxia, Prolonged QT interval, Acute rhabdomyolysis, EMG: myopathic abn...	ORPHA:480864
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Bradykinesia, Falls, Axial muscle stiffness	ORPHA:240085
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Falls, Shoulder girdle muscle weakness, Slender build, Myopathy, Patent foramen ovale, Gait distu...	OMIM:615156
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Gait imbalance, Li...	ORPHA:329336
Symmetrical Thalamic Calcifications	Arrhythmia, Failure to thrive, Ataxia	ORPHA:1314
Cardiogenic Shock	Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu...	ORPHA:97292
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Arrhythmia, Gait disturbance, Skeletal muscle atrophy, Hand muscle atrophy	ORPHA:99944
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia, Decreased activity of mi...	OMIM:619170
Autosomal Recessive Progressive External Ophthalmoplegia	Shuffling gait, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fib...	ORPHA:254886
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Myopathy, Cardiomegaly, Arrhythmia, Distal arthrogryposis, Exertional dy...	ORPHA:42
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure...	ORPHA:3093
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges...	ORPHA:137675
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Gait ataxia, Ragged-red m...	ORPHA:70595
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy	ORPHA:401923
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syn...	OMIM:619705
Gitelman Syndrome	Hypotension, Failure to thrive, Palpitations, Rhabdomyolysis, Ventricular tachycardia, Ataxia, Pr...	OMIM:263800
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Muscular dystrophy, Failure to thrive, Respiratory distress, Splenomeg...	OMIM:608799
Combined Oxidative Phosphorylation Deficiency 59	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Apnea, Severely reduced...	OMIM:620646
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Lethargy, Bradykinesia, Ataxia	OMIM:618683
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Myopathy	ORPHA:352470
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Inability to walk	OMIM:617977
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Ina...	ORPHA:26791
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Respiratory distres...	ORPHA:363705
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Hepatomegaly, Abno...	ORPHA:2348
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Hepatomegaly, Abno...	ORPHA:79083
Cednik Syndrome	Ataxia, Congestive heart failure	ORPHA:66631
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Cardiomyopathy, Calf muscle hypertrophy, Flexion contracture, Waddling gait	ORPHA:98896
Atrial Standstill 2	Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Scimitar Syndrome	Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Respiratory ...	ORPHA:185
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Lethargy, Hepatomegaly, Sudden ...	ORPHA:156
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Abnormal posturing, Lethargy, Tachypnea, Pulmonary arterial hypertension, Atri...	OMIM:614857
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Gait disturbance, Bra...	OMIM:609286
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,...	ORPHA:99094
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Respiratory distress, Failure to thrive in infancy, Difficulty walking, ...	ORPHA:254875
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tip-toe gait, L...	ORPHA:268
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopathy, Ventricular tachycardia, ...	OMIM:300952
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, At...	OMIM:229300
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Mitochondrial hypertrophy, Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased ac...	OMIM:500013
Glycogen Storage Disease Iii	Ventricular hypertrophy, Distal amyotrophy, Cardiomyopathy, Myopathy, Hepatomegaly	OMIM:232400
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Dysmetria, Arrhythmia, Gait disturbance, At...	ORPHA:96
Mulibrey Nanism	Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Propionic Acidemia	Hepatomegaly, Arrhythmia, Cardiomyopathy	ORPHA:35
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Failure to thrive, Biventricular hypertrophy, Coronary artery fistula, Co...	OMIM:619343
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Decreased activity of mitochondrial complex I, Cardiomyopathy, N...	OMIM:619003
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Mitochondrial Complex I Deficiency, Nuclear Type 29	Mitochondrial swelling, Hypertrophic cardiomyopathy, Abnormal heart morphology, Palpitations, Dec...	OMIM:618250
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Difficulty walking, Diastasis recti, Mitral regur...	ORPHA:423461
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity...	ORPHA:70591
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Failure to thrive, Respiratory distress, Lethargy, Hepatomegaly	OMIM:251110
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Azoospermia, Abnormal left ventricle morphology, Cerebral hemorrhage, Hyp...	OMIM:300845
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Gait disturbance, Flexio...	ORPHA:682
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Scapular winging, Prol...	OMIM:170390
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Gait ataxia, Left ventricular hypertrophy, Lethargy, Ataxia, Tachycardia	OMIM:618321
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Dilated cardiomyopathy, Failure to thrive in infancy, Hepatospleno...	ORPHA:231226
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Failure to thrive, Cor pulmonale	OMIM:263000
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Cardiomyopathy, Congestive heart failure, Generalized limb muscle atrophy, Hand ...	ORPHA:98908
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Elbow flexion contracture, Apnea, Increased muscle lipid content, Knee fl...	OMIM:608836
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Infantile Refsum Disease	Failure to thrive, Cardiomyopathy, Arrhythmia, Ataxia, Hepatomegaly, Facial palsy	ORPHA:772
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Cardiomyopathy, Ataxia	ORPHA:3222
Familial Atrial Fibrillation	Palpitations, Syncope, Dyspnea, Atrial fibrillation, Myocardial infarction	ORPHA:334
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Gitelman Syndrome	Prominent U wave, Failure to thrive, Abnormal T-wave, Respiratory distress, Palpitations, Rhabdom...	ORPHA:358
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy,...	OMIM:615895
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre...	OMIM:212138
Lethal Infantile Mitochondrial Myopathy	Lethargy, Cardiomyopathy	ORPHA:254857
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox...	OMIM:614302
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Decreased activity of mitochondri...	OMIM:610505
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Difficulty walking, Myopathy, Truncal ataxia, Right ventricular d...	ORPHA:369847
Maternal Uniparental Disomy Of Chromosome X	Flexion contracture, Camptodactyly of finger, Congestive heart failure	ORPHA:261519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Transposition of the great a...	OMIM:253800
Fabry Disease	Congestive heart failure, Transient ischemic attack, Angina pectoris, Ventricular septal hypertro...	OMIM:301500
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Exertional dyspnea, Splenomegaly, Congestive heart failure	ORPHA:90037
Melas	Ataxia, Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Concentric hypertrophic cardio...	ORPHA:550
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Small vessel vasculitis	OMIM:608068
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Supraventricular tachycardia, Hi...	ORPHA:423
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