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Gene: Des MGI:94885

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

desmin

Synonyms:

N/A

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 Des 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 Des (5 diseases)
Human diseases predicted to be associated with Des (1879 diseases)

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

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Myopathy, Myofibrillar, 1	Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn...	OMIM:601419
Desminopathy	Neck flexor weakness, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficienc...	ORPHA:98909
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154

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

Disease	Matching phenotypes	Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat...	OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Heart block, ...	ORPHA:98912
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ...	OMIM:612999
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Neck flexor we...	ORPHA:263297
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block...	OMIM:310300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin...	ORPHA:59135
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Myopathy, Myofibrillar, 1	Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn...	OMIM:601419
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Nathalie Syndrome	Abnormal EKG, Skeletal muscle atrophy	OMIM:255990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Desminopathy	Neck flexor weakness, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficienc...	ORPHA:98909
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Myopathy, Distal, Tateyama Type	Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic...	OMIM:614321
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Myopathy, Myofibrillar, 3	Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Cardio...	OMIM:609200
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive...	OMIM:609452
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes...	OMIM:608099
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac...	ORPHA:399103
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s...	OMIM:617072
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Danon Disease	Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, In...	OMIM:300257
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Cardiomyopathy...	ORPHA:603
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Proximal muscle weakness, Gowers sign, Dilated c...	OMIM:611615
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet...	OMIM:608358
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s...	OMIM:608807
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Proximal muscle weakness, Fatty replacement of skeletal muscle, Decreased activity of mitochondri...	OMIM:255100
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am...	OMIM:158600
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal muscle weakness, Proximal amyotrophy, Musc...	OMIM:614302
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Familial Atrial Fibrillation	Palpitations, Atrial fibrillation, Syncope, Myocardial infarction	ORPHA:334
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Gowers sign, Cardiomyopathy,...	OMIM:617336
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Myopathy, Myofibrillar, 2	Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak...	OMIM:608810
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Distal Myotilinopathy	Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak...	ORPHA:98911
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu...	ORPHA:399086
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia	OMIM:310095
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Dilated cardiomyopathy, Calf m...	ORPHA:34515
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we...	OMIM:614065
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ...	OMIM:160500
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Proximal muscle weakness, Gowers sign, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dys...	OMIM:612937
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li...	OMIM:616812
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Bacterial endocarditis, Premature ventricular contraction	ORPHA:1964
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac...	OMIM:300696
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Scapuloperoneal amyotrophy, R...	OMIM:613205
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h...	OMIM:619178
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness, Limb-girdle muscle weakness, C...	OMIM:615352
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement	OMIM:615377
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness...	ORPHA:86812
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ...	OMIM:300718
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Gowers sign, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular ...	OMIM:602541
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula...	OMIM:212138
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Fatiguable weakness of proximal limb muscles, Respiratory insufficiency due to muscle weakness, I...	ORPHA:63273
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl...	ORPHA:488650
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Proximal muscle weakness, Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyo...	ORPHA:206546
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg...	OMIM:609286
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhyth...	OMIM:616516
Adult-Onset Nemaline Myopathy	Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr...	ORPHA:171442
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Myopathy,...	OMIM:300580
Leber Hereditary Optic Neuropathy	Retinal telangiectasia, Ventricular preexcitation, Myopathy, Arrhythmia, Mitochondrial respirator...	ORPHA:104
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Skeletal muscle hypertrophy, Right bundle branch block, Muscular dystrophy, Proximal muscle weakness	OMIM:613158
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Myopathy, Myofibrillar, 6	Scapular winging, Distal muscle weakness, Facial palsy, Restrictive cardiomyopathy, Proximal musc...	OMIM:612954
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d...	OMIM:115197
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Muscle Filaminopathy	Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Left ventricular di...	ORPHA:171445
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card...	ORPHA:98855
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Poor head control, Cardiac conduction abnormality, Gowe...	ORPHA:97244
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Ethanolaminosis	Cardiomegaly	OMIM:227150
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Distal muscle weakness, Cardiomegaly, Proximal muscl...	OMIM:618654
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block, Progressi...	ORPHA:480
Congenital Myopathy 4A, Autosomal Dominant	Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R...	OMIM:255310
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Fiber type grouping	OMIM:614369
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu...	ORPHA:98896
Congenital Myopathy 2A, Typical, Autosomal Dominant	Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici...	OMIM:161800
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Myotonic Dystrophy 2	Tachycardia, Neck flexor weakness, Proximal muscle weakness, Premature ventricular contraction, R...	OMIM:602668
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Decreased activity of mitochondrial complex IV, Ragged-red muscle fi...	OMIM:619024
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop...	OMIM:615959
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card...	ORPHA:98863
Mitochondrial Dna Depletion Syndrome 11	Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopa...	OMIM:615084
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Neck flexor weakness, Ra...	ORPHA:457050
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive...	ORPHA:178400
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Poor head control, Generalized li...	OMIM:615351
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tendon contracture,...	OMIM:300695
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness, Co...	OMIM:310200
Glycogen Storage Disease 0, Muscle	Exercise intolerance, Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy,...	OMIM:611556
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Idiopathic/Heritable Pulmonary Arterial Hypertension	Fatigue, Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart ...	ORPHA:422
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ...	OMIM:620265
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Progressive external ophthalmoplegia, Decreased mitochondrial number, Respiratory insufficiency d...	ORPHA:352447
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Generalized muscle weakness, Decreased activity of mitoch...	OMIM:614096
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Mitochondrial Myopathy With Diabetes	Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Decreased activity of mitochond...	OMIM:500002
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi...	ORPHA:75249
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac...	OMIM:610140
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmoplegia, Cardiomyop...	ORPHA:401768
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Decreased...	OMIM:252011
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Macroglossia, Calf muscle ...	OMIM:613155
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Poor head control, Congestive heart failure, Flexion contracture, Axial ...	ORPHA:157973
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ophthalmoplegia, Ragged-red muscle fibe...	OMIM:540000
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ...	OMIM:620249
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia, Camptodactyly	OMIM:618453
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas...	OMIM:618378
Myopathy, Distal, 3	Distal muscle weakness, Split hand, Distal amyotrophy, Muscular dystrophy, Late-onset proximal mu...	OMIM:610099
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Miyoshi Muscular Dystrophy 1	Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi...	OMIM:254130
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Generalized muscle weakness, Decreased activity of mitochon...	OMIM:212350
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Abnormality of the mi...	ORPHA:91130
Hemochromatosis, Type 2A	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy	OMIM:602390
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Myopathy, Decreased activity of mitocho...	OMIM:618234
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Decreased activity of mitochondrial complex IV, Ragged-red muscle fiber...	OMIM:616794
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Distal muscle weakness, Abnormal iron deposition in mitochondria, Rhabdo...	OMIM:255125
Neutral Lipid Storage Disease With Myopathy	Proximal muscle weakness, Gowers sign, Increased muscle lipid content, Myopathy, Cardiomyopathy, ...	OMIM:610717
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ...	OMIM:605355
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m...	OMIM:253601
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Congestive heart failure...	ORPHA:206569
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Ventricular hypertrophy, Scapular winging, Proximal muscle weakness, Gowers sign, Proximal amyotr...	OMIM:601287
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog...	OMIM:611588
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Progressive external ophthalmoplegia, Congestive heart failure, Dilated cardiomyopathy, Ragged-re...	ORPHA:1349
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle muscle weakness, Mu...	OMIM:603511
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Right ventricular fa...	ORPHA:324604
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Childhood-Onset Nemaline Myopathy	Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ...	ORPHA:171439
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98902
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left ventricular noncompaction cardiomyopathy, Facial palsy, Left atrial enlargement, Cardiogenic...	OMIM:619424
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Calf muscle hypertrophy, Shoul...	OMIM:611307
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca...	ORPHA:272
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Facial palsy, Progressive muscle weakness	ORPHA:772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Facial palsy, Proximal muscle weakness, Cryptorchidism, Fl...	OMIM:613156
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology...	ORPHA:598
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers si...	OMIM:617258
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Nemaline Myopathy 6	Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Limb muscle weakness, Nemaline bodies	OMIM:609273
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth...	OMIM:255320
Myasthenic Syndrome, Congenital, 13	Muscle fiber tubular inclusions	OMIM:614750
Mcleod Syndrome	Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Muscle wea...	OMIM:300842
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy, Distal muscle weakness, Hammertoe	OMIM:610100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P...	ORPHA:26793
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Abdominal wall muscle weakness, Facial palsy, Retinal ...	OMIM:158900
Variegate Porphyria	Tachycardia	OMIM:176200
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca...	OMIM:158810
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Decreased activity of mitochond...	OMIM:618236
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Decreased circulating carni...	ORPHA:159
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he...	ORPHA:1329
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno...	ORPHA:423
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Proximal muscle weakness, Ventricular septal hypertrophy, Proximal amyotrophy, Neck muscle weakne...	OMIM:612998
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ...	ORPHA:399096
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Progressiv...	ORPHA:368
Myotonic Dystrophy 1	Facial diplegia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block	OMIM:160900
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ...	OMIM:167320
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f...	OMIM:620351
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Kearns-Sayre Syndrome	Progressive external ophthalmoplegia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atri...	OMIM:530000
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Mitral valve prolapse	OMIM:616166
Congenital Myopathy 3 With Rigid Spine	Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:602771
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Moderate Multiminicore Disease With Hand Involvement	Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance	ORPHA:178145
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Mitochondrial Complex I Deficiency, Nuclear Type 15	Decreased activity of mitochondrial complex I, Myopathy, Hypertrophic cardiomyopathy, Flexion con...	OMIM:618237
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe...	OMIM:613327
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Limb muscle weak...	OMIM:610131
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture...	ORPHA:267
Dk1-Cdg	Congestive heart failure, Progressive muscle weakness, Dilated cardiomyopathy, Cardiomyocyte hype...	ORPHA:91131
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness	OMIM:159050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc...	OMIM:613818
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Proximal muscle weakness, Hypertension, Myopathy, Muscular dystrophy, Lo...	OMIM:615980
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend...	ORPHA:353
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Myopathy, Centronuclear, 2	Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:255200
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness...	OMIM:620285
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Gowers sign, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Pelvic girdle muscle weakness, In...	ORPHA:119
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Scapular winging, Facial palsy, Beevor's sign, Pelvic girdle muscle weakness, Foot dorsiflexor we...	OMIM:158901
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture...	ORPHA:280333
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi...	ORPHA:486815
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I...	ORPHA:276435
Cap Myopathy	Poor head control, Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Fat...	ORPHA:171881
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia	OMIM:619814
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Decreased activity of mitochondrial ATP synthase complex, Ankle flexion contracture, Dilated card...	OMIM:618120
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Dystonia 23	Arrhythmia, Torticollis	OMIM:614860
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Poor head control, Cardiomyopathy	OMIM:613752
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor weakness, Abnormal atr...	ORPHA:329336
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Muscular Dystrophy, Congenital, 1B	Facial palsy, Gowers sign, Achilles tendon contracture, Generalized muscle hypertrophy, Diaphragm...	OMIM:604801
Miyoshi Muscular Dystrophy 3	Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Distal upper limb...	OMIM:613319
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Mitochondrial hypertroph...	OMIM:619518
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness...	OMIM:605637
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes...	OMIM:616878
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Rhabdomyolysis, Myopathy, Cardiomyopathy, Decreased plasma total carniti...	ORPHA:228305
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Zebra Body Myopathy	Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,...	ORPHA:97240
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Distal muscle weakness, Proxim...	OMIM:164310
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal muscle w...	ORPHA:254886
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Myopathy, Lethargy	ORPHA:26792
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Exercise intolerance, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Lethargy, H...	OMIM:613561
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc...	ORPHA:424107
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Poor head control, Arterial rupture, Myopathy, Muscle weakness	ORPHA:300179
Partial Atrioventricular Septal Defect	Atrial flutter, Angina pectoris, Transient ischemic attack, Bicuspid aortic valve, Coronary sinus...	ORPHA:1330
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A...	ORPHA:392
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, A...	ORPHA:99944
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Lethargy	ORPHA:254857
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Proximal muscle weakness, Gowers sign, Flexion contracture, Generalized ...	OMIM:613723
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee fle...	OMIM:619040
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Ge...	ORPHA:99901
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dy...	ORPHA:369840
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due to muscle weakne...	OMIM:610687
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w...	ORPHA:171433
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Nemaline Myopathy 2	Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont...	OMIM:256030
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Generalized muscle weakness, Neck muscle weakne...	OMIM:606703
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased...	OMIM:607855
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Abnormal toe morphology, Telangiectasia, Muscular dystrophy,...	ORPHA:459033
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Joint contracture of the 5th finger, Bradycardia, Atrioventricular block	OMIM:614407
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Achilles tendon contracture, Progressive proximal muscle weakness, ...	ORPHA:2596
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers, Muscle weakness	OMIM:545000
Glycogen Storage Disease Iii	Ventricular hypertrophy, Myopathy, Distal amyotrophy, Cardiomyopathy, Muscle weakness	OMIM:232400
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemorrhage, Retinal hem...	OMIM:615368
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Proximal muscle weakness, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left vent...	OMIM:607155
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox...	ORPHA:329478
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, External ophthalmoplegia, Quadriceps muscle weakness, Ophthalm...	ORPHA:254892
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ...	ORPHA:98905
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn...	OMIM:603034
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Myalgia	ORPHA:369847
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weakness, Gowers sign, Achilles ...	ORPHA:62
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth...	ORPHA:98897
Monosodium Glutamate Sensitivity	Palpitations	OMIM:231630
Carnitine Palmitoyl Transferase 1A Deficiency	Fatigue, Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhythmia, Lethargy, Hyper...	ORPHA:156
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Klhl9-Related Early-Onset Distal Myopathy	Progressive distal muscle weakness, Ankle flexion contracture, Intrinsic hand muscle atrophy, Abn...	ORPHA:399081
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc...	OMIM:613157
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Decreased activit...	OMIM:615418
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa...	OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Lethargy	OMIM:618228
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus...	OMIM:619705
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Dna2-Related Mitochondrial Dna Deletion Syndrome	Progressive external ophthalmoplegia, Multiple joint contractures, Decreased mitochondrial number...	ORPHA:352470
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12	Limb-girdle muscle weakness, Gowers sign, Muscular dystrophy	OMIM:616094
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi...	ORPHA:663
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w...	OMIM:609284
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Coproporphyria, Hereditary	Hypertension, Tachycardia	OMIM:121300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Congenital Myopathy 15	Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi...	OMIM:620161
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo...	OMIM:608340
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga...	OMIM:248800
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy	Muscular dystrophy, Muscle weakness	OMIM:253590
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Proximal muscle weakness, Achilles tendon contracture, Elbow flexion contracture, S...	OMIM:608840
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep...	ORPHA:137675
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cardiac arrest, Myofiber disarray, Decreased activity of mitochondrial complex IV, Myopathy, Incr...	OMIM:604377
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Palpitations	OMIM:188580
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Noncompaction cardiomyopathy, Poor head control, Abnormal atrioventricul...	ORPHA:3208
Symmetrical Thalamic Calcifications	Arrhythmia	ORPHA:1314
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A...	ORPHA:860
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li...	ORPHA:99013
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Hypoglycosylation of alpha-dystroglycan, Poor head control, Muscular dystrophy, Muscle weakness	OMIM:615350
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Neck flexor weakness, Ca...	ORPHA:268
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Fatigue, Left-to-right shunt, Abnormally loud pulmo...	ORPHA:99104
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ...	OMIM:616867
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Central Core Disease	Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M...	ORPHA:597
Coenzyme Q10 Deficiency, Primary, 1	Progressive muscle weakness, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased lev...	OMIM:607426
Mitochondrial Complex I Deficiency, Nuclear Type 25	Decreased activity of mitochondrial complex I, Myopathy, Nemaline bodies	OMIM:618246
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy, Decreased activity of mitochondrial respiratory chain	OMIM:613076
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology...	ORPHA:980
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Gowers sign, Progressive muscle weakness, Ragged-red muscle fibers, Decreased a...	OMIM:600462
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Cardiomegaly, Proximal muscle weakness, Fatigable weakness, Myopathy, De...	ORPHA:42
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we...	OMIM:607459
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets	OMIM:619065
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Muscle fi...	ORPHA:449285
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4	Generalized muscle weakness, Muscular dystrophy	OMIM:613152
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Multifocal Motor Neuropathy	Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Prog...	ORPHA:641
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Generalized muscle weakness, My...	OMIM:609015
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne...	ORPHA:254875
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu...	OMIM:208100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakne...	ORPHA:353327
Myopathy, Distal, With Anterior Tibial Onset	Myopathy, Proximal muscle weakness	OMIM:606768
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Congenital Gerbode Defect	Fatigue, Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricula...	ORPHA:99095
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ...	ORPHA:169189
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 33	Progressive external ophthalmoplegia, Cardiac arrest, Cardiomegaly, Decreased activity of mitocho...	OMIM:617713
Mitochondrial Complex I Deficiency, Nuclear Type 21	Decreased activity of mitochondrial complex I, Myopathy, Ragged-red muscle fibers	OMIM:618242
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Progressive muscle wea...	OMIM:608627
Muscular Dystrophy, Congenital, With Rapid Progression	Congenital muscular dystrophy, Muscle weakness	OMIM:254100
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy, Muscle weakness	OMIM:616314
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Hypertension, Myalgia, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:225
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:99811
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276580
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht...	OMIM:605809
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Decreased activity of mitochondrial ATP synthase complex, Respiratory insufficiency due to muscle...	OMIM:609560
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect	OMIM:615731
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Episodic flaccid weakness, Impaired myocardial contractility, R...	ORPHA:681
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscle, Congestiv...	ORPHA:52430
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy	OMIM:616549
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Cardiomyo...	ORPHA:258
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Con...	OMIM:616716
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s...	OMIM:619574
Gitelman Syndrome	Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Generalized muscle weakness, Palp...	OMIM:263800
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract...	OMIM:613870
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur...	ORPHA:49827
Cyclic Vomiting Syndrome	Exercise intolerance, Cardiomyopathy, Lethargy, Abdominal pain	OMIM:500007
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Short palm, Scapular winging, Short metacarpal, Toe syndactyly, Bidirectio...	OMIM:170390
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Neutral Lipid Storage Myopathy	Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, C...	ORPHA:98908
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy	OMIM:246900
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr...	ORPHA:75840
Nemaline Myopathy 8	Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc...	OMIM:615348
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Isolated Right Ventricular Hypoplasia	Fatigue, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure...	ORPHA:439
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Poor head control, Flexion contracture, Generalized amyotrophy	OMIM:618323
Combined Oxidative Phosphorylation Deficiency 20	Progressive external ophthalmoplegia, Decreased activity of mitochondrial complex IV, Left ventri...	OMIM:615917
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Scapulohumeral muscular dystrophy	OMIM:160570
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Exercise intolerance, Left...	ORPHA:57777
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Combined Oxidative Phosphorylation Deficiency 45	Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ca...	OMIM:618951
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Exercise-induc...	OMIM:201475
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur...	OMIM:620389
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit...	OMIM:500013
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Proximal muscle weakness, Achilles tend...	OMIM:606612
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Hypotension	OMIM:145600
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect	ORPHA:40366
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Ophthalmoparesis, Skeleta...	ORPHA:682
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl...	ORPHA:397744
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Fatigue, Cardiomegaly, Congestive heart failure, Depression, Cardiomyopathy, Myalgia, Limb muscle...	OMIM:619259
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology	OMIM:300438
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor...	OMIM:157640
Mitochondrial Trifunctional Protein Deficiency	Exercise intolerance, Rigors, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, ...	ORPHA:746
Muscular Dystrophy, Congenital, With Or Without Seizures	Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Progressive muscle weakness, Proximal m...	OMIM:620166
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal...	OMIM:258450
Hernia, Anterior Diaphragmatic	Congenital diaphragmatic hernia	OMIM:306950
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent foramen ...	OMIM:616866
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O...	ORPHA:79102
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Congenital diaphragmatic hernia, Progressive muscle weakness, Cutane...	OMIM:615919
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ophthalmoplegia, Ragged-red muscle...	OMIM:616479
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst...	OMIM:253600
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy	OMIM:613313
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy, Progressive external ophthalmoplegia, Cardiomyopathy	ORPHA:1215
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia	ORPHA:171719
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass	OMIM:607091
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Lower-limb joint contracture, Lethargy	OMIM:613710
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Lethargy, Cardiomegaly	OMIM:619064
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Chronic Thromboembolic Pulmonary Hypertension	Fatigue, Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascul...	ORPHA:70591
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Abnormal cardiac septum morphology, Facial hypotonia, First degree atriovent...	ORPHA:589821
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:614100
Orthostatic Hypotension 1	Weakness of facial musculature, Orthostatic hypotension, Atrial fibrillation	OMIM:223360
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Ankle flexion contracture, Small hand, Upper limb undergrowth, Telangiectasia, Knee f...	OMIM:608799
Symptomatic Form Of Hfe-Related Hemochromatosis	Fatigue, Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Abdominal pain, ...	ORPHA:465508
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Progressive external ophthalmoplegia, Gowers sign, Ophthalmoparesis, Myopathy, Shoulder girdle mu...	OMIM:615156
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Poor head control, Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopathy,...	OMIM:614299
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke	OMIM:611773
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Descending aortic dissection, Small thenar eminence, Ascending aortic dissectio...	OMIM:620080
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy	ORPHA:79230
Familial Isolated Hypoparathyroidism	Myopathy, Arrhythmia	ORPHA:2238
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Atrial septal defect, Sup...	ORPHA:97214
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Proximal muscle weakness, Ragged-red muscle fibers, Dilated cardiomyopathy, Ophthalmoparesis, Inc...	ORPHA:70595
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card...	ORPHA:66634
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Flexion contracture, Abno...	ORPHA:367
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Progressive muscle wea...	OMIM:615512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Congenital muscular dystrophy, Muscular dystrophy	OMIM:613151
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia	OMIM:606069
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur	ORPHA:3400
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy	ORPHA:88635
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy	ORPHA:206599
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Mitochondrial Complex I Deficiency, Nuclear Type 29	Proximal muscle weakness, Abnormal heart morphology, Palpitations, Decreased activity of mitochon...	OMIM:618250
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Type 1 muscle fiber predominance	OMIM:618276
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm	ORPHA:261102
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Congenital muscular dystrophy	OMIM:254000
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Decreased...	OMIM:619167
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Resp...	OMIM:232300
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio...	ORPHA:85443
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Frontotemporal Dementia With Motor Neuron Disease	Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Abnormal mitochondrial morphology...	ORPHA:275872
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Cardiomyopa...	ORPHA:565612
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Lower limb muscle weakness	OMIM:619737
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Carcinoid Syndrome	Tricuspid regurgitation, Right ventricular failure, Heart murmur, Myopathy, Palpitations, Facial ...	ORPHA:100093
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Leber Optic Atrophy	Myopathy, Arrhythmia	OMIM:535000
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakness, Facial pals...	ORPHA:98915
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Abdominal pain, Splenomegaly, Cardiomyopathy, Lethargy	ORPHA:79312
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p...	OMIM:612863
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Congenital muscular dystrophy, Decreased testicular size	ORPHA:1875
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Congenital Fiber-Type Disproportion Myopathy	Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak...	ORPHA:2020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy	OMIM:614830
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations	ORPHA:324575
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Arrhythmia, Pulm...	ORPHA:228410
Muscular Dystrophy, Mabry Type	Late-onset muscular dystrophy	OMIM:310000
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Poor head control, Muscular dystrophy, Muscle weakness	ORPHA:88618
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Proximal musc...	OMIM:254090
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy, Proximal muscle weakness	OMIM:551500
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Fetal Encasement Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Hypertension, Second degree atrioventricular block, ...	OMIM:617021
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy	OMIM:613869
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Muscular dystrophy	OMIM:204730
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Pyruvate Dehydrogenase E3 Deficiency	Cardiomyopathy, Abnormal cardiac ventricular function, Lethargy, Hepatomegaly	ORPHA:2394
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Respiratory insufficiency due to muscle weakness, Decreased activity of mitochondrial complex IV,...	OMIM:617184
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Proximal muscle weakness, Mitral valve prol...	ORPHA:230839
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma...	ORPHA:559
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Arrhythmia, Camptodactyly of finger	ORPHA:2928
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Hereditary Coproporphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia, Di...	ORPHA:79273
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath...	OMIM:614921
Carnitine Palmitoyltransferase Ii Deficiency	Rhabdomyolysis, Myopathy, Cardiomyopathy, Decreased plasma total carnitine, Decreased plasma free...	ORPHA:157
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,...	ORPHA:2348
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Glycogen Storage Disease Due To Acid Maltase Deficiency	Cardiomegaly, Gowers sign, Flexion contracture, Fatigable weakness of respiratory muscles, Lower ...	ORPHA:365
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Weakness of facial musculature, Flexion contracture, Cardiomyopathy, Myopathy, Lethargy	OMIM:201470
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Shoulder pain, Congestive heart failure, Abnormal tendon morphology,...	ORPHA:85446
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Muscle weakness, Arrhythmia	ORPHA:96
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Respiratory insufficiency due...	OMIM:301830
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Melas	Wolff-Parkinson-White syndrome, Progressive external ophthalmoplegia, Cardiac conduction abnormal...	ORPHA:550
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Hypertrophic cardiomyopathy	OMIM:619386
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Adenine Phosphoribosyltransferase Deficiency	Hypertension, Atrial fibrillation	ORPHA:976
Stiff-Person Syndrome	Tachycardia, Hypertension, Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Axia...	OMIM:184850
Nemaline Myopathy 10	Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,...	OMIM:616165
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz...	ORPHA:79083
Shwachman-Diamond Syndrome 1	Myocardial necrosis	OMIM:260400
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Prolonged QRS complex, Neck flexor weakness, Supraventricular tachycardi...	ORPHA:273
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Subdural...	OMIM:620278
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Mahvash Disease	Palpitations	OMIM:619290
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers	OMIM:618416
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib...	OMIM:601462
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Coxa vara, Genu valgu...	ORPHA:166002
Infantile Sialic Acid Storage Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly	OMIM:269920
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Generali...	OMIM:617519
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Abdominal pain, Congestive heart failure, Splenomegaly, Telangiectasi...	OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Congestive heart failure, Decreased muscle mass, Facial hypotonia	ORPHA:500533
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Poor head control, Muscular dystrophy	OMIM:613153
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Progressive muscle weakness, Cardiomyopathy, Increased sarcoplasmic glyc...	ORPHA:264580
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar...	OMIM:620011
Pulmonary Hypertension, Primary, 5	Fatigue, Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Ri...	OMIM:265400
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Isolated Glycerol Kinase Deficiency	Myopathy, Cryptorchidism	ORPHA:408
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion	ORPHA:1666
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,...	OMIM:608931
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera...	OMIM:608930
Typical Nemaline Myopathy	Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weaknes...	ORPHA:171436
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We...	ORPHA:98913
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Lethargy	OMIM:616483
Hypothyroidism, Congenital, Nongoitrous, 7	Fatigue, Lethargy	OMIM:618573
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, C...	ORPHA:178148
Neutral Lipid Storage Disease With Ichthyosis	Progressive proximal muscle weakness, Myopathy, Cardiomyopathy, Shoulder girdle muscle weakness, ...	ORPHA:98907
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnormal aortic ...	ORPHA:1166
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Diaphragmatic weakness	OMIM:620326
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology	ORPHA:70472
Sandhoff Disease	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:796
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo...	OMIM:620294
Congenital Myopathy 16	Scapular winging, Distal muscle weakness, Proximal muscle weakness, Flexion contracture, Axial mu...	OMIM:618524
Gaucher Disease Type 2	Flexion contracture, Cardiac arrest	ORPHA:77260
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria...	OMIM:300887
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia	ORPHA:438134
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial septal defect, Atrial flutter, Overriding aorta, Ventricular septal defect	OMIM:601927
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
American Trypanosomiasis	Hepatomegaly, Abdominal pain, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy...	ORPHA:3386
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction	OMIM:618098
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga...	ORPHA:99845
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Adult-Onset Cervical Dystonia, Dyt23 Type	Torticollis, Neck muscle hypertrophy, Supraventricular arrhythmia	ORPHA:420492
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Lethargy, Cardiomegaly	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Decreased activity o...	OMIM:616239
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers	OMIM:610246
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Congenital Fibrinogen Deficiency	Decreased testicular size, Tachycardia, Clubbing of fingers, Left ventricular hypertrophy, Intern...	ORPHA:335
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy, Muscle weakness	ORPHA:2349
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Lethargy, Hepatomegaly	ORPHA:27
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Calf m...	OMIM:253800
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Progressive external ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Decr...	OMIM:613662
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Laubry-Pezzi Syndrome	Aortic regurgitation, Fatigue, Aortic valve prolapse, Mildly reduced left ventricular ejection fr...	ORPHA:99094
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Broad toe, Ventricular septal defect, Diastasis recti, Progressive muscl...	ORPHA:488632
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Fatigable weakness of bulbar muscles, Dilatation of the ...	ORPHA:363623
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Fatigue, Lethargy	ORPHA:79283
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Postexertional ...	ORPHA:2299
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Arrhythmia, EMG: myopathic abnormalities	ORPHA:480864
Myasthenic Syndrome, Congenital, 6, Presynaptic	Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy	OMIM:254210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Tapered toe, Tapered finger, Cardiomegaly, Long fingers, Dilated cardiomyopathy, Elbow ...	OMIM:608836
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Atri...	OMIM:300855
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Epistaxis, Cardiac arrest, Abdominal pain, Sp...	ORPHA:99745
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
Rett Syndrome	Short foot, Skeletal muscle atrophy, Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Lower limb muscle weakness, Foo...	ORPHA:521411
Babesiosis	Fatigue, Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Depression,...	ORPHA:108
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Abnormal heart morphology	ORPHA:79264
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Combined Oxidative Phosphorylation Defect Type 27	Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ra...	ORPHA:477774
Mitochondrial Dna-Associated Leigh Syndrome	Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-red muscle fibers, Ophthalmoparesi...	ORPHA:255210
Scleromyxedema	Distal muscle weakness, Transient ischemic attack, Hypoperistalsis, Raynaud phenomenon, Proximal ...	ORPHA:167635
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Arrhythmia, Facial palsy	ORPHA:68
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Proximal muscle weakness, Congestive heart failure, Dilated cardiomyopat...	OMIM:615895
Hurler-Scheie Syndrome	Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly	ORPHA:93476
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t...	ORPHA:684
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Decreased activit...	OMIM:610505
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Acroosteolysis of distal phala...	ORPHA:280365
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Bradycardia	ORPHA:228346
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short humerus, Short femur, Abnormal mitochondrial shape, Ragged-red mus...	ORPHA:17
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Takayasu Arteritis	Abnormal endocardium morphology, Fatigue, Gangrene, Abnormal heart valve morphology, Myocardial i...	ORPHA:3287
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy	ORPHA:67048
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea...	OMIM:301500
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Heart block, Cardiomyopathy, Hammertoe	ORPHA:773
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Methylmalonic Acidemia With Homocystinuria	Fatigue, Lethargy	ORPHA:26
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ...	ORPHA:3426
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Abnormal heart morphology, Joint contracture of the hand, Abnormal muscle f...	OMIM:175700
Severe Neurodegenerative Syndrome With Lipodystrophy	Myopathy, Hypertension	ORPHA:363400
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Myopathy, Lethargy, Hepatomegaly	OMIM:614922
Propionic Acidemia	Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Lethargy, Limb hypertonia	OMIM:606054
Scrub Typhus	Abdominal pain, Splenomegaly, Myocarditis, Myalgia, Hypotension, Lethargy, Gangrene	ORPHA:83317
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Distal muscle weakness, Proximal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, ...	ORPHA:99939
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Congestiv...	ORPHA:26791
Coenzyme Q10 Deficiency, Primary, 9	Type 2 muscle fiber predominance	OMIM:619028
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic cardiomyopathy, ...	ORPHA:79279
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Arrhythmia, Cardiac arrest	ORPHA:168593
Eosinophilic Granulomatosis With Polyangiitis	Fatigue, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal peric...	ORPHA:183
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia	ORPHA:36913
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Ophthalmoplegia	OMIM:618321
Hypophosphatasia, Childhood	Myopathy, Bowing of the legs	OMIM:241510
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Facial hypotonia, Cardiomegaly, Respiratory insufficiency due to muscle weakness, Proximal muscle...	ORPHA:308552
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Atrial septal defect	ORPHA:261295
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Atrial septal defect, Tachycardia, Tapered finger, Bilateral cryptorchidism, 2-3 t...	ORPHA:485405
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar...	ORPHA:1120
Congenital Sialidosis Type 2	Abnormal EKG, Abnormal heart morphology, Telangiectasia	ORPHA:93400
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture	OMIM:619026
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge...	OMIM:601992
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Cardiomyopathy, Arthrogryposis multiplex congenita,...	OMIM:232500
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Singleton-Merten Syndrome 2	Aortic valve calcification, Arrhythmia, Aortic valve stenosis	OMIM:616298
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val...	OMIM:230500
Thrombotic Thrombocytopenic Purpura	Arrhythmia, Myocardial infarction	ORPHA:54057
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
Hyperoxaluria, Primary, Type I	Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication	OMIM:259900
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Alg9-Cdg	Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ...	ORPHA:79328
Marshall-Smith Syndrome	Hallux valgus, Atrial septal defect, Ventricular septal defect, Bullet-shaped middle phalanges of...	OMIM:602535
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Proximal mu...	ORPHA:206572
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness	OMIM:615511
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Small hand, Abnormal left ...	OMIM:300845
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm...	OMIM:160800
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Bulbar palsy, Multiple joint contractures, Poor head control, Distal mus...	ORPHA:70
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Pulmonary arterial hypertension, Camptodactyly	OMIM:619751
Rippling Muscle Disease 1	Skeletal muscle hypertrophy, Exercise-induced myalgia, Percussion-induced rapid rolling muscle co...	OMIM:600332
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV, Decreased activity of mi...	OMIM:615471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Muscular dystrophy	OMIM:615181
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteolysis involv...	ORPHA:88630
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ...	ORPHA:3099
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope	ORPHA:230
Hydrops Fetalis	Pericardial effusion, Arrhythmia, Abnormal heart morphology, Capillary leak	ORPHA:1041
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Nephronophthisis 16	Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En...	OMIM:615382
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy	OMIM:618224
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Hb Bart'S Hydrops Fetalis	Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly	ORPHA:163596
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Congenital muscular dystrophy	ORPHA:324416
Dominant Beta-Thalassemia	Bowing of the long bones, Hypoplasia of the musculature, High-output congestive heart failure, Di...	ORPHA:231226
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage, Lethargy, Hepatomegaly	OMIM:251000
Tularemia	Tachycardia	ORPHA:3392
Vocal Cord And Pharyngeal Distal Myopathy	Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne...	ORPHA:600
Hypokalemic Periodic Paralysis, Type 2	Episodic flaccid weakness, Myopathy	OMIM:613345
Serotonin Syndrome	Hypertension, Tachycardia, Rhabdomyolysis, Hypotension	ORPHA:43116
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture	OMIM:620240
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Tap...	OMIM:254940
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Abnormal...	ORPHA:90308
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Exercise intolerance, Bicuspid aortic ...	ORPHA:363705
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Tetralogy of Fallot	OMIM:250620
Ogden Syndrome	Torticollis, Ventricular septal defect, Cardiogenic shock, Arrhythmia, Lethargy	ORPHA:276432
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr...	ORPHA:185
Rippling Muscle Disease 2	Muscle mounding, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Exercise-induced myalgia, ...	OMIM:606072
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Idiopathic Congenital Hypothyroidism	Macroglossia, Bradycardia, Lethargy	ORPHA:95717
Porphyria Variegata	Proximal muscle weakness in upper limbs, Tachycardia, Hypertension, Respiratory paralysis, Muscle...	ORPHA:79473
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Poor head control, Mitochondrial swelling	OMIM:615595
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Mitral valve prolapse, Quadricuspid aortic valve, Muscle fiber splitting	OMIM:606408
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia	ORPHA:139411
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Respiratory insufficiency due to muscle weakness, Poor head control, Flexion contracture, Muscula...	OMIM:615249
Polyarteritis Nodosa	Pericarditis, Abdominal pain, Raynaud phenomenon, Cardiomyopathy, Hypertension, Arthralgia, Myalgia	ORPHA:767
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Myopathy, Hypertension,...	ORPHA:79086
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Lethargy, Cardiomegaly	OMIM:620306
Myotonia Congenita, Autosomal Recessive	Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, Mya...	OMIM:255700
Congenital Generalized Lipodystrophy	Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c...	ORPHA:528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy	OMIM:616538
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Renal tubular epithelial ne...	ORPHA:228302
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Generalized amyotrophy	OMIM:610006
Leopard Syndrome 1	Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Cryptorchidism, Mi...	OMIM:151100
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia	ORPHA:2141
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness, Rhabdomyolysis...	ORPHA:79240
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction	OMIM:615703
Acquired Partial Lipodystrophy	Myopathy	ORPHA:79087
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n...	OMIM:615578
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Distal muscle we...	ORPHA:506
Hypokalemic Periodic Paralysis, Type 1	Episodic flaccid weakness, Myopathy, Muscle weakness	OMIM:170400
Hemochromatosis, Type 3	Fatigue, Cardiomyopathy	OMIM:604250
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Developmental And Epileptic Encephalopathy 40	Lethargy, Sudden unexpected death in epilepsy	OMIM:617065
Localized Scleroderma	Skeletal muscle atrophy, Raynaud phenomenon, Flexion contracture, Vasculitis, Sclerosis of finger...	ORPHA:90289
Peroxisome Biogenesis Disorder 11B	Progressive muscle weakness, Muscle weakness	OMIM:614885
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Decreased activity of mitochondrial complex IV, Decreased activity of mitoch...	OMIM:618397
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Poor head control, Bradycardia, Decreased activity of mitochondrial comp...	OMIM:619272
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of...	ORPHA:1358
Necrotizing Enterocolitis	Shock, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy	ORPHA:391673
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology	ORPHA:886
Glycine Encephalopathy 1	Lethargy, Recurrent singultus	OMIM:605899
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Spinocerebellar Ataxia With Epilepsy	Myopathy, Ophthalmoparesis	ORPHA:254881
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Poor head control, Ankle flexion contracture, Lower limb hypertonia, Type 1 musc...	ORPHA:319514
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Flexion contracture, Camptodactyly of finger	ORPHA:261519
Beta-Thalassemia Major	Bowing of the long bones, Hypoplasia of the musculature, High-output congestive heart failure, Di...	ORPHA:231214
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Cardiomyopathy, Generalized amyotrophy, Muscle weakness, Limb hypertonia	OMIM:617710
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Mucopolysaccharidosis Type 3	Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Flexion contracture, Atriovent...	ORPHA:581
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Stormorken Syndrome	Myopathy, Epistaxis, Subarachnoid hemorrhage, Proximal muscle weakness	OMIM:185070
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Dpm1-Cdg	Sandal gap, Knee flexion contracture, Muscular dystrophy, Camptodactyly, Limb undergrowth, Long h...	ORPHA:79322
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest	OMIM:620167
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia, Camptodactyly of finger	ORPHA:3201
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Pulmonary arterial hypertension, Lethargy	OMIM:614857
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:139466
Brody Disease	Myotonia, Flexion contracture, Skeletal muscle hypertrophy, Percussion myotonia, Myalgia	OMIM:601003
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Decreased circulating carni...	ORPHA:89842
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br...	OMIM:614653
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy, Autoamputation of digits, Distal muscle weakness, Progressive muscle wea...	OMIM:256810
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Myositis, Gastrointestinal hemorrhage, Pericarditis, Angina pect...	ORPHA:93672
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Congenital diaphragmatic hernia	OMIM:601163
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Lethargy	OMIM:617397
Pontocerebellar Hypoplasia, Type 6	Lethargy, Elbow contracture	OMIM:611523
Cystinosis	Myopathy, Muscle weakness, Portal hypertension	ORPHA:213
Walker-Warburg Syndrome	Skeletal muscle atrophy, Cryptorchidism, Muscular dystrophy, Metatarsus valgus, Aplasia/Hypoplasi...	ORPHA:899
Acute Intermittent Porphyria	Proximal muscle weakness in upper limbs, Tachycardia, Distal muscle weakness, Proximal muscle wea...	ORPHA:79276
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Optic Atrophy 11	Cherry red spot of the macula, Facial diplegia, Increased variability in muscle fiber diameter, F...	OMIM:617302
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Calcinosis	ORPHA:94090
Paramyotonia Congenita	Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Paradoxical myotonia, Myalgia	OMIM:168300
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Muscle weakness	OMIM:300653
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Glutamate-Cysteine Ligase Deficiency	Myopathy	ORPHA:33574
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Myasthenic Syndrome, Congenital, 19	Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ...	OMIM:616720
Febrile Infection-Related Epilepsy Syndrome	Myalgia, Lethargy, Sudden death	ORPHA:163703
Leptospirosis	Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage, Subconjunc...	ORPHA:509
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture, Decreased activity of the pyruvate dehydrogenase ...	OMIM:614462
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Transient ischemic attack, Swelling of proximal interphalangeal joints, ...	ORPHA:3260
Noonan Syndrome 5	Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:611553
Alg1-Cdg	Cardiomyopathy, Abnormal heart morphology	ORPHA:79327
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Abnormality of the musculature of the limbs, High-output congestive heart failure, Con...	ORPHA:137667
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fatigue, Myotonia, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lowe...	ORPHA:209335
Evans Syndrome	Fatigue, Lethargy, Syncope, Epistaxis	ORPHA:1959
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia	ORPHA:380
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Acrocallosal Syndrome	Congenital diaphragmatic hernia	ORPHA:36
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Tachycardia, Dupuytren contracture	ORPHA:39812
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Arrhythmia, Hypotension	ORPHA:188
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Aplas...	ORPHA:354
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Congenital diaphragmatic hernia	OMIM:166300
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Fatigue, Hepatomegaly, Cerebral ischemia, Lethargy	ORPHA:927
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154276
Arts Syndrome	Progressive muscle weakness	OMIM:301835
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,...	OMIM:617877
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Distal lower limb amyotrophy, Exercise intolerance, Handgrip myotonia, Myoto...	ORPHA:324442
Cardiac-Urogenital Syndrome	Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Congenital diaphrag...	OMIM:618280
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Isolated Complex I Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Lethargy	ORPHA:2609
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia	ORPHA:263455
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy	OMIM:618241
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Adrenal Hypoplasia, Congenital	Cryptorchidism, Azoospermia, Muscular dystrophy, Oligozoospermia	OMIM:300200
Noonan Syndrome 8	Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:615355
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Idiopathic Pulmonary Hemosiderosis	Fatigue, Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne...	ORPHA:257
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Erythermalgia, Primary	Palpitations	OMIM:133020
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Ventricular septal defect, Bowing of the legs, Heart block, Preaxial hand ...	OMIM:617063
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Mel...	ORPHA:100080
Beck-Fahrner Syndrome	Facial hypotonia, Depression, Ventricular septal defect, Cardiomegaly	OMIM:618798
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Fatigue, Pericarditis, Myocardial infarction, Abdominal pain, Raynau...	ORPHA:91139
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia	ORPHA:71273
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Distal amyotrophy, Fiber type grouping	OMIM:271245
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171430
Isolated Anencephaly	Congenital diaphragmatic hernia	ORPHA:563609
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Limb hypertonia	OMIM:233910
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Prolonged QTc interval	ORPHA:231111
Severe Canavan Disease	Lethargy	ORPHA:314911
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo...	ORPHA:579
Immunoneurologic Disorder, X-Linked	Progressive proximal muscle weakness	OMIM:300076
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Poor head control, Tricuspid regurgitation, Myopathy, Mitral regurgitati...	OMIM:614557
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ...	OMIM:613150
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Skeletal muscle atrophy, External ophthalmoplegia, Myopathy	ORPHA:1876
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophi...	ORPHA:251071
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea...	ORPHA:505248
Thyroid Dyshormonogenesis 1	Macroglossia, Lethargy	OMIM:274400
Alg3-Cdg	Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Cardiomyopathy, Arthro...	ORPHA:79321
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Cardiac arrest, Hypotension	ORPHA:20
Myotonia, Potassium-Aggravated	Skeletal muscle atrophy, Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myo...	OMIM:608390
Alstrom Syndrome	Hypertension, Dilated cardiomyopathy, Congestive heart failure	OMIM:203800
Encephalitis Lethargica	Urinary incontinence, Bowel incontinence, Upper limb muscle weakness, Limb pain, Myalgia, Bradyca...	ORPHA:83600
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Cardiomegaly	ORPHA:158687
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Lethargy, Abnormal heart morphology	ORPHA:79284
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy	ORPHA:324525
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Flexion co...	OMIM:309900
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Abdominal wall muscle weakness, Angina pectoris, Telangiectasia, Intracr...	ORPHA:109
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failure, Oligozoospermi...	ORPHA:85450
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, Hypertrophic cardiomyopathy, Lower limb amyotrophy	ORPHA:496790
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Abdominal pain, Arthra...	ORPHA:99828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy	OMIM:613154
Vici Syndrome	Atrial septal defect, Congestive heart failure, Dilated cardiomyopathy, Myopathy, Cardiomyopathy,...	OMIM:242840
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Macroglossia, Atrial s...	OMIM:617303
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Chest pain, Bacterial endocarditis	ORPHA:1054
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome	OMIM:601338
Bacterial Toxic-Shock Syndrome	Shock, Myositis, Tachycardia, Myocarditis, Capillary leak, Hypotension	ORPHA:36234
Immunodeficiency 9	Respiratory insufficiency due to muscle weakness, Myopathy, Gowers sign, Proximal muscle weakness	OMIM:612782
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Distal muscle weakness, External ophthalmoplegia, Ragged-red muscle fibers...	ORPHA:298
Familial Thyroid Dyshormonogenesis	Macroglossia, Bradycardia, Lethargy	ORPHA:95716
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Urinary incontinence, Cardiomegal...	OMIM:268800
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrioventricular bl...	OMIM:619573
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Orthostatic hypotension, Tachycardia	OMIM:223900
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Gangrene, Epistaxis, Abdominal pain, Congestive heart ...	ORPHA:727
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141184
Wolfram Syndrome	Gastrointestinal hemorrhage, Myopathy, Ophthalmoplegia, Cardiomyopathy	ORPHA:3463
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia	ORPHA:2131
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Dietary Iron Overload Disease	Hepatomegaly, Congestive heart failure, Abnormal heart morphology	ORPHA:139507
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Postexertional symptom exacerbation	ORPHA:369
Developmental And Epileptic Encephalopathy 41	Lethargy, Flexion contracture	OMIM:617105
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ...	OMIM:112250
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Amoebiasis Due To Entamoeba Histolytica	Abnormal pericardium morphology, Abdominal pain, Congestive heart failure, Chest pain, Constricti...	ORPHA:67
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Rhabdomyosarcoma, Clinodactyly of the 5th finger, Muscular dystrophy, Subva...	ORPHA:1052
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor...	ORPHA:466650
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Short metacarpal, Ventricular septal defect, Short...	OMIM:616651
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl...	ORPHA:358
Pseudoachondroplasia	Brachydactyly, Increased laxity of fingers, Shortening of all metacarpals, Irregular carpal bones...	ORPHA:750
Sweet Syndrome	Small vessel vasculitis, Myositis, Dilated cardiomyopathy	ORPHA:3243
Combined Oxidative Phosphorylation Deficiency 5	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:611719
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Sarcoidosis	Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Proximal muscle weaknes...	ORPHA:797
Botulism	Arrhythmia	ORPHA:1267
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy	OMIM:619046
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:300978
Myasthenia, Limb-Girdle, Autoimmune	Type 2 muscle fiber atrophy, Proximal amyotrophy	OMIM:159400
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm...	ORPHA:94093
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr...	ORPHA:2556
Spinal Arteriovenous Metameric Syndrome	Fatigue, Congestive heart failure, Bone pain, Arthralgia, Gangrene	ORPHA:53721
Mitochondrial Complex I Deficiency, Nuclear Type 1	Exercise intolerance, Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Ragged-red muscle fibe...	OMIM:252010
Myotonia Fluctuans	Fatigue, Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myot...	ORPHA:99734
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Congestive heart failure, Generalized muscle weakness, Elbow flexion contr...	ORPHA:1900
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly	OMIM:619902
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Subvalvular aortic stenosis	OMIM:600430
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy	OMIM:606407
Meconium Aspiration Syndrome	Abnormal heart rate variability, Pulmonary arterial hypertension, Pulmonary insufficiency	ORPHA:70588
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy, Night sweats	ORPHA:101150
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Atrial septal defect, Sandal gap, Vent...	ORPHA:254346
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Cholera	Hypovolemic shock, Tachycardia, Hypotension	ORPHA:173
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr...	ORPHA:502423
Axial Osteomalacia	Myopathy, Proximal muscle weakness	OMIM:109130
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Ophthalmoplegia, Myopathy, Weakness of facial musculature	ORPHA:98673
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Delayed proximal femoral epiphyseal ossification, ...	ORPHA:353298
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem...	ORPHA:100082
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Lethargy	OMIM:618226
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Osteoarthritis of the small joints of the hand, Atrial fibrillation, Arachn...	ORPHA:284984
Foodborne Botulism	Arrhythmia	ORPHA:228371
Wound Botulism	Cardiac arrest	ORPHA:178475
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Ophthalmoplegia, EMG: myopathic abnormalities, Overlapping toe, Muscle weakness	ORPHA:457365
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy	OMIM:618437
Atransferrinemia	Congestive heart failure	OMIM:209300
Chanarin-Dorfman Syndrome	Myopathy, Muscle weakness	OMIM:275630
Avian Influenza	Fatigue, Abdominal pain, Congestive heart failure, Rhabdomyolysis, Chest pain, Myalgia	ORPHA:454836
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Leopard Syndrome 2	Hypertrophic cardiomyopathy	OMIM:611554
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Tapered finger, Cryptorchidism, Mitral valve p...	ORPHA:444072
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Lethargy	ORPHA:28
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Cerebral ischemia	ORPHA:60040
Jansen-De Vries Syndrome	Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve	OMIM:617450
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Muscle weakness	ORPHA:713
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Proximal muscle weakness, Myocar...	ORPHA:221
Carney Complex, Type 1	Congestive heart failure, Cardiac myxoma	OMIM:160980
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Coffin-Siris Syndrome 3	Macroglossia, Central diaphragmatic hernia, Abnormal heart morphology	OMIM:614608
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Le...	OMIM:620233
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia	ORPHA:371
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Coxa vara, Wrist flexion contracture, Abnormal metaphysis mo...	ORPHA:800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Myotonia With Skeletal Abnormalities And Mental Retardation	Skeletal muscle hypertrophy, Myotonia, Firm muscles	OMIM:255710
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy	ORPHA:544469
Gillessen-Kaesbach-Nishimura Syndrome	Flexion contracture, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:263210
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Progressive external ophthalmoplegia, Proximal muscle weakness, Type 2 m...	OMIM:619743
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectasia, Ischem...	ORPHA:2038
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Arrhythmia	ORPHA:171876
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Cornelia De Lange Syndrome 2	Hypertrophic cardiomyopathy	OMIM:300590
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure, Bipolar affective disorder	ORPHA:3077
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Familial Dysautonomia	Hypertension, Orthostatic hypotension, Tachycardia	ORPHA:1764
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Abnormal left ven...	ORPHA:892
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati...	OMIM:208050
Combined Oxidative Phosphorylation Deficiency 2	Lethargy	OMIM:610498
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus a...	OMIM:601186
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Agel Amyloidosis	Cardiomyopathy, Arrhythmia, Facial palsy, Orthostatic hypotension due to autonomic dysfunction	ORPHA:85448
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia...	ORPHA:247691
Progeria-Short Stature-Pigmented Nevi Syndrome	Brachydactyly, Multiple joint contractures, Supraventricular arrhythmia, Short distal phalanx of ...	ORPHA:2959
Marden-Walker Syndrome	Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Dext...	ORPHA:2461
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Methylcobalamin Deficiency Type Cble	Hypertension, Lower limb hypertonia, Lethargy	ORPHA:2169
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy	OMIM:617675
Acetazolamide-Responsive Myotonia	Skeletal muscle hypertrophy, Myotonia, Chest pain, Myalgia	ORPHA:99736
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy, Myotonia	OMIM:254950
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Respiratory insufficiency due to muscle weakness, Generalized muscle weakness, Skeletal muscle st...	ORPHA:436271
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication	ORPHA:416
Schisis Association	Congenital diaphragmatic hernia	ORPHA:63862
Combined Oxidative Phosphorylation Deficiency 42	Decreased activity of mitochondrial complex I, Cardiomyopathy, Decreased activity of mitochondria...	OMIM:618839
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Secundum atrial septal defect, Congestive heart failure, S...	OMIM:608779
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia...	ORPHA:404443
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Part...	OMIM:270100
Presynaptic Congenital Myasthenic Syndromes	Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i...	ORPHA:98914
Congenital Myasthenic Syndrome	Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i...	ORPHA:590
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg...	OMIM:614008
Citrullinemia Type I	Lethargy, Torticollis	ORPHA:247525
Sepsis In Premature Infants	Tachycardia, Bradycardia, Hypotension	ORPHA:90051
Insulinoma	Fatigue, Lethargy, Palpitations	ORPHA:97279
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Cutis Laxa, Autosomal Recessive, Type Ia	Ascending tubular aorta aneurysm, Vascular tortuosity, Congenital diaphragmatic hernia, Supravalv...	OMIM:219100
Aarskog-Scott Syndrome	Congestive heart failure, Camptodactyly of finger	ORPHA:915
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Arthralgia, Pulmonary ...	ORPHA:220393
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit...	ORPHA:3138
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo...	ORPHA:99050
Thoracoabdominal Syndrome	Patent ductus arteriosus, Transposition of the great arteries, Congenital diaphragmatic hernia, E...	OMIM:313850
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Idiopathic Intracranial Hypertension	Back pain, Lethargy, Depression	ORPHA:238624
Seckel Syndrome 9	Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Congenital diaphrag...	OMIM:616777
Multiple Mitochondrial Dysfunctions Syndrome 1	Pulmonary arterial hypertension, Facial paralysis, Lethargy	OMIM:605711
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Metaphyseal widening, Flexion contracture, Split hand, Genu valgum, Macr...	OMIM:253200
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Large hands, Arrhythmia, Muscle flaccidity, Camptodactyly of finger	ORPHA:3220
Neu-Laxova Syndrome	Skeletal muscle atrophy, Micromelia, Flexion contracture, Large hands, Muscular dystrophy, Aplasi...	ORPHA:2671
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni...	OMIM:309801
Dihydropyrimidinase Deficiency	Lethargy	OMIM:222748
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Hallux valgus, Tachycardia, Bicuspid aortic valve, Unilateral cryptorchidi...	ORPHA:1772
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syndactyly, Facial diplegia, ...	OMIM:619121
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra...	ORPHA:300605
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa...	OMIM:601808
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy	OMIM:312170
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Pal...	ORPHA:97287
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Progressive external ophthalmoplegia	OMIM:613077
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Type 2 muscle fiber predominance, Congenital contracture, Type 1 muscle fiber atrophy, Type 2 mus...	OMIM:619036
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Hepatomegaly, Dextrocardia, Lethargy	OMIM:277380
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Kawasaki Disease	Fatigue, Pericarditis, Abnormal heart valve morphology, Abdominal pain, Myocarditis, Congestive h...	ORPHA:2331
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Cryptorchidism, Clinodactyly, Dilated cardiomyopathy	OMIM:616541
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Martsolf Syndrome 1	Short metacarpal, Cardiac arrest, Metatarsus adductus, Congestive heart failure, Short toe, Osteo...	OMIM:212720
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve...	OMIM:231050
Muscle-Eye-Brain Disease	Myopathy	ORPHA:588
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy, Muscle weakness	ORPHA:95
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Arachnodactyly, Bicuspid aortic valve, Cerebral hemorrhage, Dextrocardia...	ORPHA:536545
Dystonia-Aphonia Syndrome	Macroglossia, Abnormal mitochondrial shape	ORPHA:412217
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Erdheim-Chester Disease	Fatigue, Abnormal pericardium morphology, Abdominal pain, Congestive heart failure, Bone pain, Ab...	ORPHA:35687
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension	ORPHA:98849
Myotonia Permanens	Myotonia, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Chest pain, Myalgia	ORPHA:99735
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Secundum atrial septal defect, Cryptorchidism, Myopathy, Mitral regurgitation, P...	OMIM:612541
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular sept...	OMIM:608978
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple...	OMIM:252500
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Abnormal heart valve morphology, Tapered finger, Cryptorchidism, Abnormal ...	ORPHA:2953
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o...	ORPHA:175
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Splenomeg...	OMIM:614866
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:848
Wars2-Related Combined Oxidative Phosphorylation Defect	Poor head control, Cardiomyopathy, Generalized amyotrophy, Muscle weakness, Limb hypertonia	ORPHA:572798
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Legionnaires Disease	Pericarditis, Myocarditis, Endocarditis, Hypotension, Arrhythmia	ORPHA:549
Immunodeficiency 10	Myopathy	OMIM:612783
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Lethargy	ORPHA:289916
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi...	OMIM:615415
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi...	OMIM:105210
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:370079
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri...	ORPHA:1335
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1520
Staphylococcal Necrotizing Pneumonia	Shock, Shivering, Chest pain, Hypotension, Lethargy, Gangrene	ORPHA:36238
Classic Galactosemia	Hepatomegaly, Lethargy, Depression	ORPHA:79239
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Listeriosis	Back pain, Fatigue, Pericarditis, Abdominal pain, Myocarditis, Congestive heart failure, Rhabdomy...	ORPHA:533
Genitopalatocardiac Syndrome	Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:2075
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:611812
Fetal Alcohol Syndrome	Atrial septal defect, Congenital diaphragmatic hernia	ORPHA:1915
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Congestive heart failure	OMIM:617253
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Isovaleric Acidemia	Lethargy, Cerebellar hemorrhage	OMIM:243500
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Sickle Cell Disease	Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly	OMIM:603903
Riboflavin Deficiency	Lethargy	OMIM:615026
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi...	ORPHA:99827
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Costello Syndrome	Ventricular septal defect, Cryptorchidism, Ulnar deviation of finger, Mitral valve prolapse, Macr...	ORPHA:3071
Combined Oxidative Phosphorylation Deficiency 12	Poor head control, Ophthalmoplegia, Ragged-red muscle fibers, Decreased activity of mitochondrial...	OMIM:614924
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ...	OMIM:600001
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul...	ORPHA:100078
Tetrasomy 5P	Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arteria...	ORPHA:3309
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m...	ORPHA:261197
Ivic Syndrome	Arrhythmia	ORPHA:2307
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia	ORPHA:284180
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ...	OMIM:617403
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Patent foramen ovale	OMIM:607143
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale, Congenital diaphragmatic hernia	OMIM:619648
Combined Oxidative Phosphorylation Deficiency 40	Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Decreased activity of...	OMIM:618835
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal heart morphology	ORPHA:94065
Emanuel Syndrome	Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Pate...	OMIM:609029
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Atrial septal defect, Atrial fibrillation, Arachnodactyly, Bicuspid aort...	OMIM:613795
Primary Unilateral Adrenal Hyperplasia	Hypertension, Palpitations, Epistaxis	ORPHA:231580
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula...	OMIM:619472
N-Acetylglutamate Synthase Deficiency	Lethargy	OMIM:237310
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di...	OMIM:613309
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular...	ORPHA:3385
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Torticollis, Hypotension, Limb hypertonia	OMIM:608643
Abetalipoproteinemia	Cardiomegaly, Congestive heart failure, Ophthalmoplegia, Myopathy, Talipes equinovarus, Distal lo...	ORPHA:14
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Lethargy	OMIM:238970
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia	ORPHA:95706
Isolated Thyroid-Stimulating Hormone Deficiency	Fatigue, Depression, Macroglossia, Bradycardia, Lethargy	ORPHA:90674
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo...	ORPHA:1842
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Raynaud phenomenon, Cryptorchidism, Hemiatrophy, Arrhythmia	ORPHA:2874
Adrenomyodystrophy	Myopathy	ORPHA:977
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca...	ORPHA:99125
Central Diabetes Insipidus	Lethargy, Depression	ORPHA:178029
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Pagod Syndrome	Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Hypoplastic left h...	ORPHA:991
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal...	OMIM:618733
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension...	ORPHA:340
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmo...	ORPHA:79282
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
16P11.2P12.2 Microdeletion Syndrome	Tricuspid regurgitation, Toe syndactyly, Camptodactyly of finger, Proximal placement of thumb, Sh...	ORPHA:261211
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Camptodactyly	ORPHA:412035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Muscular dystrophy, Adducted thumb	OMIM:614643
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy	ORPHA:5
Choreoacanthocytosis	Distal muscle weakness, Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy, Distal amyotro...	ORPHA:2388
Meningococcal Meningitis	Shock, Lethargy, Hypotension	ORPHA:33475
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Aortic root ane...	OMIM:617602
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Congestive heart failure, Hepatomegaly	ORPHA:75564
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Splenome...	ORPHA:93473
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Congenital diaphragmatic hernia	OMIM:606164
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Increased intramyocellular li...	OMIM:220110
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Overlapping toe, Flexion contracture, Atrial septal defect, Overlapping fingers, Hypertrophic car...	OMIM:619383
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem...	ORPHA:100075
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu...	ORPHA:2463
Hereditary Central Diabetes Insipidus	Lethargy	ORPHA:30925
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Arrhythmia, Patent foramen ovale	OMIM:619184
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula...	OMIM:614294
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Glycerol Kinase Deficiency	Myopathy, Muscular dystrophy, Cryptorchidism	OMIM:307030
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Hypertension	OMIM:615688
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
Idiopathic Camptocormia	Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ...	ORPHA:1320
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy	OMIM:236270
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Type 2 muscle fiber atrophy	OMIM:613845
Lowry-Maclean Syndrome	Atrioventricular canal defect, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:2409
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, 2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 finger cutaneous sy...	OMIM:620029
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail...	ORPHA:902
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb...	OMIM:602782
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Trisomy 1Q	Patent ductus arteriosus, Ventricular septal defect, Camptodactyly of finger, Congenital diaphrag...	ORPHA:261344
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Wolfram Syndrome 1	Cardiomyopathy	OMIM:222300
1P36 Deletion Syndrome	Abnormal heart valve morphology, Camptodactyly of finger, Cryptorchidism, Dilated cardiomyopathy,...	ORPHA:1606
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abdominal pain, Melena, Arthralgia, Recurrent singultus, Chest pain,...	ORPHA:319218
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Cardiomyopathy, Pulmonic stenosis, At...	OMIM:605275
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia	ORPHA:250999
Hamamy Syndrome	Long toe, Syndactyly, Atrial septal defect, Prolonged QRS complex, Tapered finger, Long fingers, ...	OMIM:611174
Congenital Enterovirus Infection	Myocarditis, Cardiomyopathy, Pericardial effusion, Hypotension	ORPHA:292
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia	ORPHA:2063
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Multiple Endocrine Neoplasia, Type Iia	Hypertension, Palpitations	OMIM:171400
Vici Syndrome	Cardiomyopathy	ORPHA:1493
Hurler Syndrome	Aortic regurgitation, Hypoplasia of the femoral head, Coxa valga, Metaphyseal widening, Flexion c...	OMIM:607014
Mucopolysaccharidosis, Type Vii	Abnormal heart valve morphology, Diastasis recti, Metatarsus adductus, Flexion contracture, Genu ...	OMIM:253220
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Finger syndactyly, Toe syndactyly, Short 2nd finger, ...	ORPHA:373
Hypothyroidism Due To Tsh Receptor Mutations	Macroglossia, Bradycardia, Lethargy	ORPHA:90673
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Facial hypotonia, Genu valgum, Macroglossia, Mitral regurgitation, Myopathy...	ORPHA:309282
Richieri Costa-Da Silva Syndrome	Handgrip myotonia, Decreased muscle mass, Myotonia of the upper limb, Diastasis recti, Skeletal m...	ORPHA:3101
Noonan Syndrome	Abnormal pulmonary valve morphology, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall mus...	ORPHA:648
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Camptodactyly of finger, Anomalous pulmonary venous return	ORPHA:2311
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat...	OMIM:608328
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Diaphyseal sclerosis, Cortical subperiosteal resorption of hum...	ORPHA:94089
Xp21 Deletion Syndrome	Calf muscle hypertrophy, Myopathy, Decreased muscle mass, Finger clinodactyly	ORPHA:261476
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Cryptorchidism, Clinodactyly, Mitral valve prolapse, Pulm...	OMIM:619745
Oligomeganephronia	Secundum atrial septal defect, Hypertension, Pulmonary venous occlusion, Congenital diaphragmatic...	ORPHA:2260
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Epistaxis, Congestive heart failure, Splenome...	ORPHA:33226
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia, Double ...	ORPHA:397
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic...	OMIM:616564
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Magel2-Related Prader-Willi-Like Syndrome	Atrial septal defect, Lethargy, Flexion contracture	ORPHA:398069
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Achilles tendon contracture, Patent ductus arteriosus, Congenita...	ORPHA:363528
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Hydranencephaly	Lethargy, Dilatation of the ventricular cavity, Antenatal intracerebral hemorrhage	ORPHA:2177
Congenital Myopathy 9A	Cryptorchidism, EMG: myopathic abnormalities	OMIM:618822
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Hepatosplenomegaly	OMIM:611590
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities	ORPHA:71
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Fl...	ORPHA:217085
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Rhabdomyolysis, Ragged-red muscle fibers, Decreased activity of mitochondrial complex III, Hypert...	OMIM:124000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ...	ORPHA:2255
Lymphedema-Distichiasis Syndrome	Arrhythmia	ORPHA:33001
Caribbean Parkinsonism	EMG: myopathic abnormalities, Orthostatic hypotension	ORPHA:97355
Emanuel Syndrome	Multiple joint contractures, Ventricular septal defect, Congenital diaphragmatic hernia, Patent d...	ORPHA:96170
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Congestive heart fa...	OMIM:256040
Sanjad-Sakati Syndrome	Short foot, Myopathy, Small hand, Cryptorchidism	ORPHA:2323
Epidermolysis Bullosa Simplex With Pyloric Atresia	Flexion contracture, Muscular dystrophy	ORPHA:158684
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy, Facial palsy	OMIM:607483
Primary Sclerosing Cholangitis	Fatigue, Hepatomegaly, Portal hypertension, Spider hemangioma, Abdominal pain, Congestive heart f...	ORPHA:171
Aceruloplasminemia	Congestive heart failure, Torticollis, Apathy	ORPHA:48818
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Lymphedema-Distichiasis Syndrome	Arrhythmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Triphalangeal thumb, EMG: myopathic a...	ORPHA:2549
Semilobar Holoprosencephaly	Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat...	ORPHA:220386
Alobar Holoprosencephaly	Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat...	ORPHA:93926
Lobar Holoprosencephaly	Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat...	ORPHA:93924
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm, Dextrocardia	ORPHA:2437
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy	OMIM:618810
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Flexion contracture	OMIM:616271
Xanthinuria, Type I	Myopathy	OMIM:278300
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy	OMIM:616051
Kleefstra Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Macroglossia, Talipes equinovar...	ORPHA:261494
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Decreased plasma total carni...	ORPHA:79408
Hermansky-Pudlak Syndrome 1	Hematochezia, Cardiomyopathy, Epistaxis, Abdominal pain	OMIM:203300
Aicardi-Goutieres Syndrome 1	Splenomegaly, Cardiomyopathy, Vasculitis, Hepatomegaly	OMIM:225750
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Fryns Syndrome	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal cardiac septum morphol...	ORPHA:2059
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Lethargy	OMIM:210210
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Trichinellosis	Facial palsy, Ocular pain, Retinal hemorrhage, Apathy, Lethargy	ORPHA:863
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Apathy, Arthrogryposis multiplex co...	OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	External ophthalmoplegia, Abnormal mitochondrial shape, Muscle weakness	ORPHA:485421
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:268249
Congenital Myopathy 17	Overlapping fingers, Overlapping toe, Tapered finger, Myopathy, Distal arthrogryposis, Hand clenc...	OMIM:618975
Gm1 Gangliosidosis Type 1	Macroglossia, Cardiomyopathy, Flattened femoral head, Broad long bone diaphyses, Broad metacarpals	ORPHA:79255
Hypercalcemia, Infantile, 1	Lethargy	OMIM:143880
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy...	OMIM:130650
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy	OMIM:615838
Late-Onset Isolated Acth Deficiency	Fatigue, Orthostatic hypotension, Abdominal pain, Arthralgia, Hypotension, Lethargy	ORPHA:199299
Marburg Hemorrhagic Fever	Shock, Back pain, Tachycardia, Pericarditis, Abdominal pain, Hypovolemia, Capillary leak, Subconj...	ORPHA:99826
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Kufor-Rakeb Syndrome	Fatigue, Urinary incontinence, Bowel incontinence, Bradykinesia, Apathy, Leg muscle stiffness, Le...	ORPHA:306674
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Lethargy	OMIM:201450
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Combined Immunodeficiency Due To Crac Channel Dysfunction	Myopathy	ORPHA:169090
Degcags Syndrome	Syndactyly, Tachycardia, Toe syndactyly, Ventricular septal defect, Short thumb, Preaxial hand po...	OMIM:619488
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:612530
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency	OMIM:166210
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Hypotension, Clinodactyly of the 5th finger,...	ORPHA:2135
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Arterial tortuosity, Aortic root aneurysm, Generalized arterial ...	OMIM:614437
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Elbow flexion contracture, Small hand, Knee flexion contracture,...	ORPHA:371364
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Short metacarpal, Short fifth metatarsal, Short metatarsal, Sh...	ORPHA:79444
Halperin-Birk Syndrome	Flexion contracture, Perimembranous ventricular septal defect, Congenital diaphragmatic hernia	OMIM:618651
Hereditary Spherocytosis	Hepatomegaly, Abdominal pain, Splenomegaly, Chills, Myalgia, Restrictive cardiomyopathy	ORPHA:822
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary valve morphology, Fl...	ORPHA:217093
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall...	ORPHA:2710
Marfan Syndrome	Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong...	OMIM:154700
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy	ORPHA:445038
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio...	ORPHA:1692
Diamond-Blackfan Anemia	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Lethargy, Abnormality...	ORPHA:124
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Pericardial effusion, Flexion contracture, Cardiomyopathy, Muscle weakness	OMIM:212065
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Cryptorchidism, Cardiomyopathy, Abnormal cardiac septum ...	OMIM:217980
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Decreased activity of mitochondrial complex IV, 2-3 toe syndactyly, Decreased activity of mitocho...	OMIM:616539
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Chronic fatigue, Conge...	ORPHA:558
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch...	ORPHA:1830
Mucopolysaccharidosis Type 2	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal heart morphology, ...	ORPHA:580
Mgat2-Cdg	Arrhythmia, Ventricular septal defect, Reflex asystolic syncope, Abnormal heart morphology	ORPHA:79329
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal morphology of the radius, Metaphyseal dysplasia, Facial palsy, ...	ORPHA:1328
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Lower limb muscle weakness	ORPHA:395
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Matthew-Wood Syndrome	Congenital diaphragmatic hernia	ORPHA:2470
2Q37 Microdeletion Syndrome	Abnormal aortic morphology, Congenital diaphragmatic hernia	ORPHA:1001
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma	OMIM:191100
Familial Hypoaldosteronism	Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension	ORPHA:427
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr...	ORPHA:1596
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Atrial septal defect, Bicuspid aortic valve, Camptodactyly of finge...	OMIM:607872
Genetic Transient Congenital Hypothyroidism	Macroglossia, Lethargy	ORPHA:226316
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension, Lethargy	OMIM:215600
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia	ORPHA:1647
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Plague	Tachycardia, Hematemesis, Endocarditis, Hypotension, Arrhythmia	ORPHA:707
Hereditary Xanthinuria	Myopathy	ORPHA:3467
Generalized Pustular Psoriasis	Fatigue, Congestive heart failure, Arthralgia, Pain	ORPHA:247353
Citrullinemia Type Ii	Hepatomegaly, Mania, Night sweats, Lethargy	ORPHA:247585
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Episodic Ataxia Type 1	Calf muscle hypertrophy, Myotonia	ORPHA:37612
Craniorachischisis	Congenital diaphragmatic hernia	ORPHA:63260
Resistance To Thyrotropin-Releasing Hormone Syndrome	Fatigue, Lethargy, Depression	ORPHA:99832
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy	OMIM:616084
Vacterl/Vater Association	Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:887
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Urinary incontinence, Pulmonary arterial hypertension, Bowel incontinence	OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Generalized muscle weakness, Muscular dystrophy, Muscle weakness	OMIM:253280
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A...	OMIM:105650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cryptorchidism, Congenital contracture, Congenital muscular dystrophy	OMIM:236670
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia	ORPHA:1834
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Macroglossia, Pul...	ORPHA:444077
Renal Hypoplasia, Bilateral	Hypertension, Lethargy	ORPHA:97362
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Autosomal Recessive Cutis Laxa Type 1	Congestive heart failure, Abnormal cardiac ventricular function, Dilatation of the ventricular ca...	ORPHA:90349
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial septal defect...	OMIM:616364
Biotinidase Deficiency	Lethargy, Limb muscle weakness	ORPHA:79241
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Chronic fatigue, Hypotension, Episodic abdominal pain	ORPHA:361
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal...	ORPHA:79443
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Arthrogryposis multiplex congenita, Arrhythmia	ORPHA:163746
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Macroglossia, Clinodactyly of the 5th finger, Mitral valve prolapse	ORPHA:369950
Castleman Disease	Fatigue, Abdominal pain, Flank pain, Constitutional symptom, Restrictive cardiomyopathy	ORPHA:160
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ...	ORPHA:2162
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Bradykinesia, Hypertrophic cardiomyopathy, Hypom...	ORPHA:309854
Holocarboxylase Synthetase Deficiency	Lethargy	ORPHA:79242
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Lethargy	OMIM:201100
Diets-Jongmans Syndrome	Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Congenital d...	OMIM:618846
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Achalasia, Ineffective esophageal peristalsis, Sinus bradycardia	OMIM:619482
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Opitz Gbbb Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent foramen ovale, Patent ductus a...	ORPHA:2745
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno...	ORPHA:97297
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation...	OMIM:618454
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Fatigue, Macroglossia, Bradycardia, Lethargy	ORPHA:226307
Perlman Syndrome	Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Interrupted aortic...	OMIM:267000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Distal amyotrophy, Ragged-red muscle fibers	OMIM:603041
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Lambert-Eaton Myasthenic Syndrome	Progressive proximal muscle weakness, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Parkes Weber Syndrome	Back pain, Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse, Chest p...	ORPHA:90307
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Clinodactyly of the 5th finger, Atria...	ORPHA:904
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Fatigue, Epistaxis, Abdominal pain, Cardiomyopathy	ORPHA:79430
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Congenital diaphragmatic hernia	OMIM:614080
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Renovascular hypertension, Hepatosplenomegaly, Pulmonary arterial hyper...	ORPHA:391487
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Hypertension, Congenital diaphragmatic hernia	OMIM:194080
Rabson-Mendenhall Syndrome	Ventricular septal defect, Macroglossia, Cardiomyopathy, Polydactyly, Atrial septal defect	ORPHA:769
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic...	OMIM:301022
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy	OMIM:237300
Oculodentodigital Dysplasia	Atrial septal defect, 4-5 finger syndactyly, Joint contracture of the 5th finger, Arrhythmia, Sho...	OMIM:164200
Posterior Urethral Valve	Hypertension, Urinary incontinence, Lethargy	ORPHA:93110
Focal Dermal Hypoplasia	Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her...	ORPHA:2092
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Back pain, Torticollis, Fatigue, Ventricular septal defect, Bicuspid aortic...	OMIM:619475
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy	ORPHA:2089
Incontinentia Pigmenti	Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage...	ORPHA:464
Familial Mediterranean Fever	Pericarditis, Vasculitis, Arrhythmia, Myocardial infarction	ORPHA:342
Maple Syrup Urine Disease	Lethargy	OMIM:248600
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure	OMIM:181270
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma	OMIM:613254
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Muscular dystrophy	OMIM:615287
Medulloblastoma	Back pain, Lethargy, Cerebellar hemorrhage	ORPHA:616
Atypical Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Congestive heart failure, Aortic valve calci...	ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Large hands, Generalized muscular appearance from birth	OMIM:608594
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Abnormal heart morphology	ORPHA:468678
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Bradycardia, Lethargy	OMIM:218700
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Rhizomelia, Metaphyseal cupping, Myocarditis,...	OMIM:250220
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Pulmonic stenosis	ORPHA:529962
Stromme Syndrome	Myopathy, Preaxial polydactyly	OMIM:243605
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy	OMIM:615398
Biotinidase Deficiency	Splenomegaly, Hepatomegaly, Lethargy	OMIM:253260
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Vascular dilatation, Patent f...	OMIM:613177
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure	ORPHA:2505
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Macroglossia, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Lethargy	OMIM:251110
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy	OMIM:210200
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia	ORPHA:958
Lysinuric Protein Intolerance	Hepatosplenomegaly, Hepatomegaly, Lethargy, Abnormal heart morphology	ORPHA:470
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy	OMIM:618329
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyop...	ORPHA:90324
Postinfectious Vasculitis	Cerebral vasculitis, Abdominal pain, Raynaud phenomenon, Night sweats, Cardiomyopathy, Hypertensi...	ORPHA:48435
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype...	ORPHA:51
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Vascular dilatation, Abnormal heart morphology	OMIM:617641
Costello Syndrome	Hyperextensibility of the finger joints, Ventricular septal defect, Rhabdomyosarcoma, Achilles te...	OMIM:218040
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Congenital diaphragmatic hernia	OMIM:616546
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Lethargy	OMIM:617156
Spastic Paraplegia 79B, Autosomal Recessive	Myotonia, Flexion contracture	OMIM:615491
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Clubbing, Cardiomyopathy	ORPHA:33364
Toriello-Carey Syndrome	Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis	ORPHA:3338
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Short palm, Atrial septal defect, Cryptorchidism, Cardiomyopathy...	OMIM:312870
Noonan Syndrome 3	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At...	OMIM:609942
Transcobalamin Ii Deficiency	Hepatomegaly, Lethargy	OMIM:275350
Aicardi-Goutieres Syndrome 7	Poor head control, Hematemesis, Pericardial effusion, Vasculitis, Hematochezia, Hypertension, Hyp...	OMIM:615846
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Lethargy	OMIM:251100
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Aplasia of the 5th metacarpal, Ventricula...	OMIM:181450
Aymé-Gripp Syndrome	Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Ca...	ORPHA:1272
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Multiple Endocrine Neoplasia, Type Iib	Myopathy, Proximal femoral epiphysiolysis	OMIM:162300
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Dilatation of the ventricul...	ORPHA:90348
Anemia, Congenital Dyserythropoietic, Type Iv	Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly	OMIM:613673
Dpagt1-Cdg	Prolonged QT interval, Arachnodactyly, Flexion contracture, Intracranial hemorrhage, Camptodactyl...	ORPHA:86309
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	ORPHA:96121
Beta-Thalassemia Intermedia	Hepatomegaly, High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Pulmonary a...	ORPHA:231222
Proteus Syndrome	Hallux valgus, Finger syndactyly, Decreased muscle mass, Macroorchidism, Macrodactyly, Sudden car...	ORPHA:744
Wiskott-Aldrich Syndrome	Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In...	ORPHA:906
Sim1-Related Prader-Willi-Like Syndrome	Lethargy	ORPHA:398079
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
Lipodystrophy, Congenital Generalized, Type 2	Large hands, Hypertrophic cardiomyopathy, Generalized muscular appearance from birth, Ventricular...	OMIM:269700
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Microform Holoprosencephaly	EMG: myopathic abnormalities, Tetralogy of Fallot	ORPHA:280200
Hereditary Fructose Intolerance	Hepatomegaly, Lethargy, Abdominal pain	ORPHA:469
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial musculature, Fle...	OMIM:265000
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, H...	OMIM:157800
Trisomy 18	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmati...	ORPHA:3380
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Atrial septal defect, Anomaly of lower limb diaphyses, Arachnodactyly, Bicus...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Atrial septal defect, Anomaly of lower limb diaphyses, Arachnodactyly, Bicus...	ORPHA:363958
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Fumarase Deficiency	Perimembranous ventricular septal defect, Mitochondrial swelling	OMIM:606812
Kabuki Syndrome	Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:2322
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S...	ORPHA:116
Holocarboxylase Synthetase Deficiency	Lethargy	OMIM:253270
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:2369
Cockayne Syndrome A	Hip contracture, Cryptorchidism, Ivory epiphyses of the phalanges of the hand, Hypertension, Arrh...	OMIM:216400
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
Stickler Syndrome	Skeletal muscle atrophy, Arachnodactyly, Genu valgum, Mitral valve prolapse, Macroglossia, Abnorm...	ORPHA:828
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Legius Syndrome	Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse	ORPHA:137605
Citrullinemia, Classic	Hepatomegaly, Lethargy	OMIM:215700
Acromegaly	Fatigue, Depression, Macroglossia, Hypertension, Mitral regurgitation, Arthralgia, Hypertrophic c...	ORPHA:963
Pearson Syndrome	Cardiomyopathy, Cardiac conduction abnormality, Abnormal heart morphology	ORPHA:699
Somatomammotropinoma	Fatigue, Depression, Macroglossia, Hypertension, Mitral regurgitation, Arthralgia, Hypertrophic c...	ORPHA:314769
Cardiofaciocutaneous Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten...	ORPHA:1340
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of...	ORPHA:3472
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:607721
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati...	OMIM:154400
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Lethargy, Abdominal pain	OMIM:229600
Argininosuccinic Aciduria	Hepatomegaly, Lethargy	OMIM:207900
Oculoectodermal Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack	OMIM:600268
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Cardiofaciocutaneous Syndrome 1	Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:115150
Smith-Lemli-Opitz Syndrome	Overlapping toe, Ventricular septal defect, Micromelia, Proximal placement of thumb, Metatarsus a...	OMIM:270400
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy	OMIM:277400
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia	OMIM:304110
Thomsen And Becker Disease	Myotonia	ORPHA:614
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Tibial bowing, Atrial septal defect, Short tibia, Small proximal tibial epip...	ORPHA:96334
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Enl...	OMIM:276700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology	ORPHA:369837
Multiple Endocrine Neoplasia Type 1	Abdominal pain, Shortened QT interval, Hematemesis, Depression, Melena, Hypertension, Lethargy, I...	ORPHA:652
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hip contracture, Flexion contracture, Myopathy	ORPHA:3042
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Abdominal pain	OMIM:311250
Cystinosis, Nephropathic	Skeletal muscle atrophy, Metaphyseal widening, Myopathy, Genu valgum	OMIM:219800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Lethargy	ORPHA:415
Neurodegeneration With Brain Iron Accumulation 1	Myopathy, Decreased muscle mass	OMIM:234200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture	OMIM:225400
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Lethargy	OMIM:557000
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Episodic abdominal pain, Hypertension, Chest pain, Ast...	ORPHA:447
Cornelia De Lange Syndrome 1	Ventricular septal defect, Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:122470
Leprechaunism	Large hands, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:508
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Ventricular septal defect, Agenesis of the diaphragm	OMIM:236680
Zimmermann-Laband Syndrome 1	Splenomegaly, Cardiomyopathy, Hepatomegaly	OMIM:135500
Wolf-Hirschhorn Syndrome	Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart valve morphology, Congen...	ORPHA:280
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Decreased activity of mitochondrial complex IV, Aortic val...	OMIM:220111
Johanson-Blizzard Syndrome	Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A...	OMIM:243800
Acrorenal-Mandibular Syndrome	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:200980
Hyperkalemic Periodic Paralysis	Myotonia	OMIM:170500
Iniencephaly	Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia	ORPHA:63259
Poland Syndrome	Atrial septal defect, Aplasia of the pectoralis major muscle, Dextrocardia, Congenital diaphragma...	ORPHA:2911
Hypermobile Ehlers-Danlos Syndrome	Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon rupture	ORPHA:285
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Cockayne Syndrome B	Cryptorchidism, Ivory epiphyses of the phalanges of the hand, Hypertension, Arrhythmia, Muscle we...	OMIM:133540
Episodic Ataxia, Type 2	Myotonia	OMIM:108500
Stuve-Wiedemann Syndrome 1	Myotonia, Elbow flexion contracture, Contracture of the proximal interphalangeal joint of the 5th...	OMIM:601559
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Atrial septal defect, Abnormal morphol...	ORPHA:84
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Myotonia	ORPHA:391307
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia	OMIM:273395
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	ORPHA:818
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Carney Complex	Hypertension, Cardiac myxoma, Congestive heart failure	ORPHA:1359
Monosomy 9P	Congenital diaphragmatic hernia	ORPHA:261112
Glycine Encephalopathy	Lethargy, Recurrent singultus	ORPHA:407
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hypermobility of toe joints, Bicuspid aortic valve, Myocardial infarction,...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Hypermobility of toe joints, Bicuspid aortic valve, Myocardial infarction,...	ORPHA:99228
Monosomy X	Prolonged QT interval, Hypermobility of toe joints, Bicuspid aortic valve, Myocardial infarction,...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hypermobility of toe joints, Bicuspid aortic valve, Myocardial infarction,...	ORPHA:881
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Rhabdomyosarcoma, Bowing of the legs, Renovascular hypertension, Abno...	ORPHA:97685
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
C Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia	ORPHA:1308
Alström Syndrome	Portal hypertension, Testicular fibrosis, Congestive heart failure, Short toe, Dilated cardiomyop...	ORPHA:64
Coffin-Siris Syndrome 1	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	OMIM:135900
Noonan Syndrome 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:163950
Yunis-Varon Syndrome	Short metatarsal, Absent hallux, Patent foramen ovale, Tapered finger, Aplasia/Hypoplasia of the ...	OMIM:216340
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Overlapping toe, Postaxial polydactyly, Tapered finger, Curved fingers, Small hand...	ORPHA:480880
Cornelia De Lange Syndrome	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:199
Pineoblastoma	Lethargy	ORPHA:251909
Focal Dermal Hypoplasia	Diastasis recti, Congenital diaphragmatic hernia, Telangiectasia	OMIM:305600
Witteveen-Kolk Syndrome	Intracranial hemorrhage, Congenital diaphragmatic hernia, Contracture of the distal interphalange...	OMIM:613406
Pallister-Killian Syndrome	Atrial septal defect, Rhizomelia, Ventricular septal defect, Congenital diaphragmatic hernia, Mes...	OMIM:601803
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial effusion, Long fingers, I...	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Des

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Des.

No publications found that use IMPC mice or data for Des.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Des^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Des^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Des^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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