Gene: Xirp1 MGI:1333878

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

xin actin-binding repeat containing 1

Synonyms:

Cmya1, Xin, mXin alpha

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 Xirp1 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 Xirp1 (0 diseases)
Human diseases predicted to be associated with Xirp1 (761 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Xirp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth...	OMIM:613424
His Bundle Tachycardia	Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy	ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Ethanolaminosis	Cardiomegaly	OMIM:227150
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Cardiomyopathy, Dilated, 1D	Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C...	OMIM:601494
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail...	OMIM:601493
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red...	OMIM:604765
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ...	OMIM:609200
Cardiomyopathy, Familial Hypertrophic, 27	Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc...	OMIM:618052
Left Ventricular Noncompaction 10	Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ...	OMIM:615396
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di...	OMIM:612158
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ...	OMIM:613642
Cardiomyopathy, Dilated, 1W	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:613122
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C...	OMIM:615373
Cardiomyopathy, Dilated, 2A	Myofiber disarray, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Conge...	OMIM:611880
Cardiomyopathy, Dilated, 1M	Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f...	OMIM:607482
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro...	ORPHA:603
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom...	OMIM:602087
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr...	ORPHA:300751
Cardiomyopathy, Dilated, 1Jj	Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:615235
Sick Sinus Syndrome 2	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve...	OMIM:163800
Cardiomyopathy, Familial Restrictive, 1	Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar...	OMIM:115210
Gne Myopathy	Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger...	ORPHA:602
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom...	OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy	OMIM:607487
Left Ventricular Noncompaction 1	Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr...	OMIM:604169
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 15	Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent...	OMIM:613255
Long Qt Syndrome 15	Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula...	OMIM:616249
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles	OMIM:609500
Myofibrillar Myopathy 10	Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype...	OMIM:619040
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi...	ORPHA:63273
Atrial Standstill	Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa...	ORPHA:1344
Myopathy, Distal, 7, Adult-Onset, X-Linked	Myofiber disarray, Increased variability in muscle fiber diameter, Fatty replacement of skeletal ...	OMIM:301075
Muscular Dystrophy, Becker Type	Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy	OMIM:300376
Myopathy, Distal, 4	Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal...	OMIM:614065
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,...	OMIM:608099
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy	OMIM:107970
Cardiomyopathy, Dilated, 1Ee	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613252
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Weakness of th...	ORPHA:98912
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:613286
Cardiomyopathy, Familial Hypertrophic, 28	Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct...	OMIM:619402
Distal Nebulin Myopathy	Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i...	ORPHA:399103
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ...	OMIM:611615
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype...	OMIM:613690
Cardiomyopathy, Dilated, 1Dd	Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca...	OMIM:613172
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Cardiomyopathy, Familial Hypertrophic, 21	Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat...	OMIM:614676
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet...	OMIM:618654
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu...	OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy...	OMIM:608807
Cardiomyopathy, Dilated, 1U	Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge...	OMIM:613694
Cardiomyopathy, Dilated, 1Kk	Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ...	OMIM:615248
Distal Myotilinopathy	Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal...	ORPHA:98911
Cardiomyopathy, Familial Hypertrophic, 8	Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w...	OMIM:608751
Cardiomyopathy, Dilated, 1L	Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre...	OMIM:606685
3-Methylglutaconic Aciduria, Type V	Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Congestive heart failure...	OMIM:610198
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy	ORPHA:320360
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h...	ORPHA:399086
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy	OMIM:255100
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy	OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial...	OMIM:613874
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ...	OMIM:181350
Tibial Muscular Dystrophy	Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea...	ORPHA:609
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Myopathy, X-Linked, With Postural Muscle Atrophy	Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor...	OMIM:300696
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Muscular dystrophy, Joint contracture, Generalized limb muscle atrophy, Prolonged QT interval, Hy...	OMIM:615351
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,...	ORPHA:399058
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he...	OMIM:616117
Cardiomyopathy, Dilated, 1Z	Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy	OMIM:611879
Long Qt Syndrome 16	Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,...	OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent...	OMIM:613251
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy	OMIM:606842
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:617228
Cardiomyopathy, Familial Hypertrophic, 26	Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi...	OMIM:617047
Cardiomyopathy, Dilated, 1J	Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi...	OMIM:605362
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol...	OMIM:619566
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Nemaline Myopathy 11, Autosomal Recessive	Cardiomyopathy, Type 1 muscle fiber predominance, Nemaline bodies, Scapular winging, First degree...	OMIM:617336
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge...	OMIM:614096
Atrial Standstill 1	Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy...	OMIM:108770
Jervell And Lange-Nielsen Syndrome 1	Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval	OMIM:220400
Long Qt Syndrome 13	Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e...	OMIM:613485
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta...	OMIM:611705
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re...	ORPHA:57777
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure	ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 12	Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop...	OMIM:612124
Nathalie Syndrome	Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Incessant Infant Ventricular Tachycardia	Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W...	ORPHA:45453
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert...	OMIM:604286
Cardiomyopathy, Familial Hypertrophic, 16	Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper...	OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat...	OMIM:610476
Cardiomyopathy, Dilated, 1V	Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea...	OMIM:613697
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst...	OMIM:604772
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy	OMIM:609308
Danon Disease	Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red...	OMIM:300257
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc...	OMIM:619903
Ventricular Tachycardia, Familial	Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy	OMIM:192605
Heart-Hand Syndrome, Slovenian Type	Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod...	ORPHA:168796
Timothy Syndrome	Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Tetralogy o...	OMIM:601005
Cardiomyopathy, Dilated, 2G	Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray...	OMIM:619897
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy,...	OMIM:609452
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom...	OMIM:615352
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy...	ORPHA:206549
Myopathy, Distal, 1	Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur...	OMIM:160500
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f...	ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 1	Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia	OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,...	OMIM:608758
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion contracture, Left ven...	ORPHA:206546
Long Qt Syndrome 2	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched...	OMIM:613688
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl...	ORPHA:206559
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card...	OMIM:600884
Attrv122I Amyloidosis	Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK...	ORPHA:85451
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia	OMIM:614896
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Right bundle branch block, Limb-girdle muscle weakness, Centrally nucleated...	OMIM:255160
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo...	OMIM:601419
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Atrial Fibrillation, Familial, 9	Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f...	OMIM:613980
Sick Sinus Syndrome 4	Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,...	OMIM:619464
Cardiomyopathy, Dilated, 1Bb	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:612877
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc...	OMIM:300718
Long Qt Syndrome 10	Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib...	OMIM:611819
Dpm3-Cdg	Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes...	ORPHA:263494
Long Qt Syndrome 6	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong...	OMIM:613693
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, EMG: myopathic abno...	OMIM:608358
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Right bundle branch block, Decreased muscle mass, T-wave inversion, Vent...	ORPHA:263297
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus...	OMIM:612937
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Atrial Fibrillation, Familial, 3	Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr...	OMIM:607554
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop...	OMIM:608810
Long Qt Syndrome 1	Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,...	OMIM:192500
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy	OMIM:618235
Loeffler Endocarditis	Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-...	ORPHA:75566
Glycogen Storage Disease Xv	Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi...	OMIM:613507
Naxos Disease	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph...	OMIM:601214
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,...	OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 11	Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris...	OMIM:612098
Long Qt Syndrome 14	T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT...	OMIM:616247
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric...	OMIM:252011
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a...	OMIM:115197
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	ORPHA:868
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopathy, Frontalis ...	OMIM:300580
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon...	ORPHA:398124
Long Qt Syndrome 9	Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br...	OMIM:611818
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ...	ORPHA:86812
Chronic Atrial And Intestinal Dysrhythmia	Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a...	OMIM:616201
Familial Hyperaldosteronism Type Iii	Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT inte...	ORPHA:251274
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Idiopathic Neonatal Atrial Flutter	Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma...	ORPHA:45452
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,...	OMIM:616501
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car...	OMIM:608569
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Sudden cardiac death, Knee flexion contracture, Elbow flexion contracture, Achilles tendon contra...	OMIM:310300
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra...	OMIM:615441
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Cardiomyopathy	OMIM:613752
Brugada Syndrome 9	Presyncope, Palpitations, Prolonged QT interval, ST segment elevation	OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre...	OMIM:604400
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos...	OMIM:616827
Acquired Aneurysmal Subarachnoid Hemorrhage	Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti...	ORPHA:90065
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Endocardial fibrosis	OMIM:607685
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo...	ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 17	Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ...	OMIM:613873
Jervell And Lange-Nielsen Syndrome 2	Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q...	OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ...	OMIM:611528
Combined Oxidative Phosphorylation Deficiency 23	Cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:616198
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Intermediate Nemaline Myopathy	Flexion contracture, Facial palsy, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodies...	ORPHA:171433
Cardiomyopathy, Familial Hypertrophic, 6	Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ...	OMIM:600858
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ...	ORPHA:171442
Tako-Tsubo Cardiomyopathy	Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris...	ORPHA:66529
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy	OMIM:617713
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Lower limb muscle weakness, Generalized amyotrophy, Abnormal EKG, Lower limb hypertonia, Cardiomy...	ORPHA:1177
Neutral Lipid Storage Disease With Myopathy	Increased muscle lipid content, Myopathy, Hepatomegaly, Cardiomyopathy	OMIM:610717
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti...	ORPHA:59135
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber...	OMIM:619424
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly, Atrioventricular block, Arrhythmia	ORPHA:85447
Sick Sinus Syndrome 1	Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin...	OMIM:608567
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Atrial Fibrillation, Familial, 11	Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea...	ORPHA:119
Fixed Subaortic Stenosis	Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,...	ORPHA:3092
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy	ORPHA:91130
Cardiac Arrhythmia, Ankyrin-B-Related	Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia	OMIM:600919
Cardiomyopathy, Dilated, 1Nn	Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc...	OMIM:615916
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,...	OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 2	Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul...	OMIM:115195
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Myopathy	ORPHA:1369
Andersen-Tawil Syndrome	Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,...	ORPHA:37553
Cardiomyopathy, Dilated, 1S	Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef...	OMIM:613426
Cardiomyopathy, Familial Hypertrophic, 13	Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca...	OMIM:613243
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Progressive Familial Heart Block, Type Ib	Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f...	OMIM:604559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc...	OMIM:613155
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Lipodystrophy, Congenital Generalized, Type 4	Increased variability in muscle fiber diameter, Splenomegaly, Flexion contracture, Centrally nucl...	OMIM:613327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy	OMIM:604401
Cardiomyopathy, Dilated, 1E	Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti...	OMIM:601154
Congenital Disorder Of Glycosylation, Type Ik	Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy	OMIM:608540
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa...	OMIM:620135
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia	Patent foramen ovale, Bradycardia, Sick sinus syndrome	OMIM:617182
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy	OMIM:618236
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s...	OMIM:612422
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm...	ORPHA:1345
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Flexion contracture, EMG: myopathic abnormalities...	ORPHA:171439
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib...	OMIM:609040
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy	OMIM:602541
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Generalized amyotrophy, Dilated cardiomyopathy, Prolonged QT interval,...	ORPHA:66634
Desminopathy	Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges...	ORPHA:98909
Congenital Left Ventricular Aneurysm	Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm...	ORPHA:1055
Long Qt Syndrome 5	Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv...	OMIM:613695
Cardiomyopathy, Dilated, 1G	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre...	OMIM:604145
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, ...	OMIM:618234
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,...	OMIM:615184
Brugada Syndrome	Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven...	ORPHA:130
Long Qt Syndrome 12	Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation	OMIM:612955
Long Qt Syndrome 3	Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ...	OMIM:603830
Glycogen Storage Disease Iii	Ventricular hypertrophy, Myopathy, Hepatomegaly, Distal amyotrophy, Cardiomyopathy	OMIM:232400
Long Qt Syndrome 8	Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ...	OMIM:618447
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Cardiomyopathy	ORPHA:98896
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ...	ORPHA:401768
Congenitally Uncorrected Transposition Of The Great Arteries	Dextrotransposition of the great arteries, Left ventricular outflow tract obstruction, Ventricula...	ORPHA:860
Romano-Ward Syndrome	Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo...	ORPHA:101016
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le...	OMIM:115000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar...	OMIM:610193
Cardiomyopathy, Dilated, 2F	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:619747
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy	OMIM:105120
Propionic Acidemia	Arrhythmia, Hepatomegaly, Cardiomyopathy	ORPHA:35
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis	ORPHA:2022
Coronary Arterial Fistula	Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte...	ORPHA:2041
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ...	OMIM:616812
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:618719
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Cardiomyopathy, Dilated, 2D	Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef...	OMIM:619371
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali...	OMIM:615418
Myopathy, Myofibrillar, 6	Knee flexion contracture, Myofibrillar myopathy, Restrictive cardiomyopathy, Generalized amyotrop...	OMIM:612954
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Cardiomyopathy, Weakness of facial musculature, Skeletal muscle atrophy, Limb muscle weakness, Ab...	ORPHA:329336
Muscular Dystrophy, Duchenne Type	Knee flexion contracture, Flexion contracture, Abnormal EKG, Calf muscle hypertrophy, Muscular dy...	OMIM:310200
Sengers Syndrome	Hypertrophic cardiomyopathy, Myopathy	OMIM:212350
Refsum Disease, Classic	Congestive heart failure, Arrhythmia, Cardiomegaly, Limb muscle weakness, Cardiomyopathy	OMIM:266500
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Complete Atrioventricular Septal Defect	Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir...	ORPHA:1329
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Short Chain Acyl-Coa Dehydrogenase Deficiency	Myopathy, Cardiomyopathy	ORPHA:26792
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Arrhythmia, Splenomegaly, Cardiom...	OMIM:602390
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fatty replacement of skeletal muscle, Weakness of the intrinsic hand muscles, EMG: myopathic abno...	ORPHA:329478
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Torsade de pointes, Rhabdomyolysis, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:616878
Autosomal Recessive Progressive External Ophthalmoplegia	Cardiomyopathy, Muscle fiber atrophy, Myopathy, Scapular winging, Ragged-red muscle fibers, Hand ...	ORPHA:254886
Atrial Fibrillation, Familial, 7	Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval...	OMIM:612240
Wolff-Parkinson-White Syndrome	Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul...	OMIM:194200
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Calf muscle ...	ORPHA:268
Indomethacin Embryofetopathy	Ventricular septal defect, Atrial septal defect, Cardiomyopathy	ORPHA:1909
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Flexion contracture, Myopathy	OMIM:618237
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia	ORPHA:324588
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Generalized amyotrophy, Hepatomegaly, Ragged-red muscle fibers	OMIM:613561
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc...	OMIM:619167
Duchenne And Becker Muscular Dystrophy	Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy	ORPHA:262
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy	OMIM:618815
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, T-wave inversion, Pericardial effusion, Enlarged kidney, ST segment depression, Cong...	OMIM:261740
Carnitine Deficiency, Systemic Primary	Endocardial fibroelastosis, Reduced muscle carnitine level, Congestive heart failure, Hypertrophi...	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Tropical Endomyocardial Fibrosis	Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona...	ORPHA:75565
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragg...	ORPHA:1349
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Calcinosis	ORPHA:94090
Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont...	ORPHA:98853
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Congenital Myopathy 2A, Typical, Autosomal Dominant	Dilated cardiomyopathy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Nemaline ...	OMIM:161800
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh...	OMIM:115200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Cap Myopathy	Increased variability in muscle fiber diameter, Generalized amyotrophy, Lower limb muscle weaknes...	ORPHA:171881
Intellectual Developmental Disorder With Cardiac Arrhythmia	Bradycardia, Sick sinus syndrome, Arrhythmia	OMIM:617173
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy	OMIM:616549
Congenital Aortic Valve Stenosis	Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,...	ORPHA:3093
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Camptodactyly of toe, Hypertrophic cardio...	OMIM:300280
Drug-Induced Lupus Erythematosus	Pericarditis, Prolonged QTc interval, Pericardial effusion	ORPHA:231111
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Weakness of ...	OMIM:615959
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect	OMIM:616276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Ragged-red muscle fibers, Bradycardia, Arrhythmia, Limb muscle weak...	OMIM:609286
Mitochondrial Dna Depletion Syndrome 11	Generalized amyotrophy, Dilated cardiomyopathy, Arrhythmia, Proximal amyotrophy, Ragged-red muscl...	OMIM:615084
Naxos Disease	Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C...	ORPHA:34217
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont...	ORPHA:98855
Familial Atrial Myxoma	Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my...	ORPHA:615
Peripartum Cardiomyopathy	Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at...	ORPHA:563
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Cardiomyopathy	OMIM:615119
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Premature ventricular contr...	OMIM:212138
Thyrotoxic Periodic Paralysis	Impaired myocardial contractility, Rhabdomyolysis, Lower limb muscle weakness, Abnormal muscle fi...	ORPHA:79102
X-Linked Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont...	ORPHA:98863
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy	OMIM:619492
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ...	ORPHA:439
Arterial Calcification, Generalized, Of Infancy, 2	Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C...	OMIM:614473
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Congestive heart failure	OMIM:605676
Brugada Syndrome 3	Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr...	OMIM:611875
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Tricuspid r...	OMIM:619433
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr...	ORPHA:216694
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Hemochromatosis, Type 2B	Splenomegaly, Congestive heart failure, Hepatomegaly, Cardiomyopathy	OMIM:613313
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ...	OMIM:255310
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect	OMIM:619170
Rett Syndrome	Abnormal T-wave, Skeletal muscle atrophy, Prolonged QTc interval	OMIM:312750
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block	OMIM:609438
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent foramen ovale, Increased variability in muscle fiber diameter, Flexion contracture, Muscle...	OMIM:616866
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Abnormal EKG, EMG: myopathic abnormalities, Prolonged QT interval, Acute rhabdomyolysis, Arrhythmia	ORPHA:480864
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	OMIM:616896
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Familial Idiopathic Dilatation Of The Right Atrium	Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal...	ORPHA:1677
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy	ORPHA:71212
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Hypertension, Arrhythmia	ORPHA:3222
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618228
Arrhythmogenic right ventricular dysplasia, familial, 2	Effort-induced polymorphic ventricular tachycardia, Dilatation of the ventricular cavity, Right v...	OMIM:600996
Cardiomyopathy, Dilated, 1Y	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas...	OMIM:611878
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Skeletal myopathy, Abnormality of the calf musculature, Abnormality of ...	ORPHA:565612
Atrial Standstill 2	Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr...	OMIM:615745
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Heart Block, Congenital	Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse...	OMIM:234700
Isolated Succinate-Coq Reductase Deficiency	Knee flexion contracture, Skeletal myopathy, Left ventricular hypertrophy, Noncompaction cardiomy...	ORPHA:3208
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Polymyositis	Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Abnormal muscle fiber mor...	ORPHA:732
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Sudden cardiac death, Reduced left ventricular ejection fraction, Exercise-induced rhabdomyolysis...	OMIM:201475
Carnitine Palmitoyl Transferase 1A Deficiency	Sudden cardiac death, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Arrhythmia	ORPHA:156
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Scapular winging, Bidirectional v...	OMIM:170390
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Rhabdomyolysis, Myopathy, Hepatomegaly, Arrhythmia, Cardiomyopathy	ORPHA:228305
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Lower limb muscle weakness, Generalized limb muscle atrophy, Facial diplegia, Foot dorsiflexor we...	ORPHA:521411
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized...	ORPHA:52430
Familial Short Qt Syndrome	Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At...	ORPHA:51083
Atrial Septal Defect, Ostium Primum Type	Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,...	ORPHA:99106
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Macroglos...	ORPHA:308552
Neuraminidase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect	OMIM:616277
Brugada Syndrome 7	Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal...	OMIM:613120
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Dilated cardiomyopathy, Myopath...	ORPHA:272
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia	OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr...	OMIM:607450
Kearns-Sayre Syndrome	Cardiomyopathy, Third degree atrioventricular block, Ragged-red muscle fibers, Arrhythmia	OMIM:530000
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy	ORPHA:67048
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra...	ORPHA:324410
Combined Oxidative Phosphorylation Defect Type 23	Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric...	ORPHA:444013
Hemochromatosis, Type 4	Cardiomyopathy, Hepatomegaly, Arrhythmia	OMIM:606069
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Generalized amyotrophy, Dilated cardiomyopathy, Weakness of facial musculature, Myopathy, Arrhyth...	ORPHA:352447
Hurler-Scheie Syndrome	Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopathy	ORPHA:93476
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy, Cardiomyopathy	ORPHA:1215
Short Qt Syndrome 1	Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at...	OMIM:609620
Gitelman Syndrome	Hypotension, Rhabdomyolysis, Prolonged QT interval, Ventricular tachycardia, Palpitations	OMIM:263800
Cocaine Intoxication	Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Rhabdomyolysis, Ventricular arrhy...	ORPHA:90068
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Glycogen Storage Disease Ii	Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Firm muscles, Macrogloss...	OMIM:232300
Familial Isolated Restrictive Cardiomyopathy	Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,...	ORPHA:75249
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ...	ORPHA:542306
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Hemochromatosis, Type 1	Telangiectasia, Congestive heart failure, Hepatomegaly, Arrhythmia, Cardiomegaly, Splenomegaly, C...	OMIM:235200
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosomes, Hypertrophic cardiomyopathy, Ske...	ORPHA:368
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega...	OMIM:619051
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Flexion contracture, Abnormal aortic valve morphology, Congestive heart ...	ORPHA:1194
Infantile Refsum Disease	Facial palsy, Cardiomyopathy, Hepatomegaly, Arrhythmia	ORPHA:772
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cardiomyopathy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Generalized...	OMIM:258450
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Hepatomegaly, Arrhythmia, Cardiomegaly	ORPHA:42
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Infantile Sialic Acid Storage Disease	Cardiomegaly, Splenomegaly, Congestive heart failure, Hepatomegaly	OMIM:269920
Mcleod Syndrome	Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Hepatomegaly, Splenomegaly, Atrial fibrillation...	OMIM:300842
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia	OMIM:606703
Collagenoma, Familial Cutaneous	Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu...	OMIM:115250
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp...	ORPHA:555874
Wild Type Attr Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Congestive heart...	ORPHA:330001
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Cardiomyopathy	OMIM:249270
Nephronophthisis 16	Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulm...	OMIM:615382
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Telangiectasia...	ORPHA:79279
Glycogen Storage Disease Iv	Hepatosplenomegaly, Skeletal muscle atrophy, Portal hypertension, Arthrogryposis multiplex congen...	OMIM:232500
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myofiber disarray, Increased variability in muscle fiber diameter, Cardiac arrest, Hypertrophic c...	OMIM:604377
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Cardiomyopathy	OMIM:619003
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Cardiac Diverticulum	Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent...	ORPHA:1686
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Limb muscle weakness, Congestive heart failure, Cardiomyopathy	OMIM:619259
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Ethylene Glycol Poisoning	Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Tachycardia, A...	ORPHA:31826
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Patent foramen ovale, Restrictive cardiomyopathy, Flexion contracture, Camptodactyly, Mitral regu...	ORPHA:88630
Short Qt Syndrome 7	Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation	OMIM:620231
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect	OMIM:618499
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendon contracture, Macroglossia...	OMIM:607155
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly	OMIM:619064
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Short Qt Syndrome 2	Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri...	OMIM:609621
Hyperinsulinism Due To Ucp2 Deficiency	Syncope, Hypertrophic cardiomyopathy, Palpitations, Hepatomegaly, Tachycardia	ORPHA:276556
Hec Syndrome	Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia	ORPHA:2119
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia	ORPHA:96
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness, Left vent...	ORPHA:746
Mulibrey Nanism	Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly	OMIM:253250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Gitelman Syndrome	Abnormal T-wave, Rhabdomyolysis, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-...	ORPHA:358
Brugada Syndrome 6	Cardiac arrest, Ventricular fibrillation, ST segment elevation	OMIM:613119
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252920
Primary Lipodystrophy	Hypertension, Congestive heart failure, Angina pectoris, Myopathy, Skeletal muscle hypertrophy, S...	ORPHA:90970
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Pulmonary arterial hypertension, Prolonged QT interval, Flexion contracture, Camptodactyly	OMIM:620029
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tricuspid re...	OMIM:618652
Symptomatic Form Of Hemochromatosis Type 1	Decreased muscle mass, Elevated jugular venous pressure, Congestive heart failure, Hepatomegaly, ...	ORPHA:465508
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Syncope, Hypertrophic cardiomyopathy, Palpitations, Hepatomegaly, Tachycardia	ORPHA:276575
Takayasu Arteritis	Pulmonary arterial hypertension, Cerebral ischemia, Abnormal aortic valve morphology, Hypertensio...	ORPHA:3287
Dihydrolipoamide Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:246900
Cardiogenic Shock	Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C...	ORPHA:97292
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of skeletal muscle fiber size, Congestive heart failure, Hypertrophic cardiomyopathy,...	ORPHA:2348
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Ventricular ...	OMIM:607598
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis	ORPHA:94089
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Syncope, Hypertrophic cardiomyopathy, Palpitations, Hepatomegaly, Tachycardia	ORPHA:276580
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Hypertension, Cardiomyopathy	ORPHA:767
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Absence Of The Pulmonary Artery	Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,...	ORPHA:980
Barth Syndrome	Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Increased left ventricul...	OMIM:302060
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal T-wave, Rhabdomyolysis, Sinus tachycardia, Abnormal pulse pressure, ST segm...	ORPHA:466650
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Myopathy, Flexion contracture, Weakness of facial musculature, Cardiomyopathy	OMIM:201470
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal...	ORPHA:373
Pparg-Related Familial Partial Lipodystrophy	Abnormality of skeletal muscle fiber size, Hypertension, Congestive heart failure, Hypertrophic c...	ORPHA:79083
Aapoaiv Amyloidosis	Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ...	ORPHA:439232
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Dilatation of the ventricular cavity, Lower limb muscle weakness, Proximal muscle weakness in upp...	ORPHA:363623
American Trypanosomiasis	Congestive heart failure, Hepatomegaly, Arrhythmia, Myocarditis, Splenomegaly, Cardiomyopathy	ORPHA:3386
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Noonan Syndrome 8	Ventricular septal defect, Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardi...	OMIM:615355
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Camptodactyly of toe, Hypovolemic shock, Cardiomegaly, Cardiom...	ORPHA:158687
Pyruvate Dehydrogenase E3 Deficiency	Abnormal cardiac ventricular function, Hepatomegaly, Cardiomyopathy	ORPHA:2394
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Atrial Fibrillation, Familial, 14	Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation	OMIM:615378
Refsum Disease	Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly, Heart block	ORPHA:773
Amyloidosis, Hereditary, Transthyretin-Related	Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy	OMIM:105210
Alg1-Cdg	Abnormal heart morphology, Cardiomyopathy	ORPHA:79327
Congenital Muscular Dystrophy With Cerebellar Involvement	Congenital muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Macroglossia, Calf muscle...	ORPHA:370959
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Rhabdomyolysis, Ventricular tachycardia, Hepatomegaly, Arrhythmia, Cardiomyopathy	ORPHA:159
Hemochromatosis, Type 3	Cardiomyopathy	OMIM:604250
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Aorta Coarctation	Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ...	ORPHA:1457
Brugada Syndrome 4	Shortened QT interval, Atrial fibrillation, Syncope	OMIM:611876
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Flexion contracture, Abnormal muscle glycogen content, Dilated cardiomyopathy, Congestive heart f...	ORPHA:367
Atrial Septal Defect, Ostium Secundum Type	Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati...	ORPHA:99103
Dk1-Cdg	Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy...	ORPHA:91131
Al Amyloidosis	Reduced left ventricular ejection fraction, Abnormal EKG, Monoclonal light chain cardiac amyloido...	ORPHA:85443
Congenital Disorder Of Glycosylation, Type It	Sudden cardiac death, Pulmonary arterial hypertension, Ventricular septal defect, Rhabdomyolysis,...	OMIM:614921
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Cerebellar hemorrhage, Congestive heart failure, Dilated cardiomyopathy, EM...	ORPHA:99901
Arterial Calcification, Generalized, Of Infancy, 1	Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly	OMIM:208000
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy	OMIM:618241
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Abnormal heart morphology, Congestive heart failure	ORPHA:70472
Neutral Lipid Storage Myopathy	Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, Increased intramyocellular...	ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 11	Myopathy, Hepatomegaly, Cardiomyopathy	OMIM:614922
Leigh Syndrome With Leukodystrophy	Hypertrophic cardiomyopathy, Ventricular septal defect	ORPHA:255241
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Cardiomyopathy	ORPHA:79312
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum...	OMIM:620066
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:615279
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy	OMIM:300438
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy	OMIM:619046
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Limb hypertonia, Generalized amyotrophy, Cardiomyopathy	OMIM:617710
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus...	OMIM:619705
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis	ORPHA:79444
Short Qt Syndrome 3	Shortened QT interval, Palpitations, Tachycardia	OMIM:609622
Roifman Syndrome	Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Hepatomegaly, Splenomegaly	OMIM:616651
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function	ORPHA:229
Pituitary Gigantism	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:99725
Craniofaciofrontodigital Syndrome	Pulmonary arterial hypertension, Cardiomegaly, Persistent fetal circulation, Ventricular septal d...	ORPHA:363705
Triokinase And Fmn Cyclase Deficiency Syndrome	Reduced systolic function, Dilated cardiomyopathy, Hepatomegaly	OMIM:618805
Alg3-Cdg	Macroglossia, Arthrogryposis multiplex congenita, Cardiomyopathy	ORPHA:79321
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:369
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Cantu Syndrome	Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve	OMIM:239850
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Idiopathic Pulmonary Hemosiderosis	Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Multiple Acyl-Coa Dehydrogenase Deficiency

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