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Gene: Sgcd MGI:1346525

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

sarcoglycan, delta (dystrophin-associated glycoprotein)

Synonyms:

delta-SG

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 Sgcd 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 Sgcd (4 diseases)
Human diseases predicted to be associated with Sgcd (938 diseases)

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

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Ventricular hypertrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr...	OMIM:601287
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6	Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ...	ORPHA:219

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

Disease	Matching phenotypes	Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati...	OMIM:604286
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal...	OMIM:181350
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila...	ORPHA:34515
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:611615
Cardiomyopathy, Dilated, 1J	Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Sudden death, Abnormal le...	OMIM:605362
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Elevated circulating creatine kinase concentration, Shoulder girdle muscle weak...	OMIM:310095
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb...	OMIM:615352
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Myopathy, Myofibrillar, 2	Orthopnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency due to m...	OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat...	OMIM:601954
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb...	OMIM:609308
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Dilated, 1B	Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr...	OMIM:616827
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Ventricular hypertrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr...	OMIM:601287
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Elevated circulating creatine kinase concentration, Centrally nucleated ske...	ORPHA:86812
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Elevated circulating creatine kinase c...	OMIM:160500
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Ventricular septal hypertrophy, Elevated circulating creatine kinase concentration, Muscular dyst...	OMIM:612998
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Miyoshi Muscular Dystrophy 3	Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ...	OMIM:613319
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ...	ORPHA:565612
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Calf...	OMIM:611307
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Miyoshi Muscular Dystrophy 1	Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ...	OMIM:254130
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Muscular Dystrophy, Congenital, 1B	Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Ge...	OMIM:604801
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Apnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency, Respiratory...	OMIM:613869
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in...	OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc...	OMIM:253700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopathy, Limb-girdle...	OMIM:612937
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Myopathy, Myofibrillar, 6	Scapular winging, Elevated circulating creatine kinase concentration, Facial palsy, Restrictive c...	OMIM:612954
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Elevated circulating creatine kinase concentration, Dyspnea, Flexion contracture, S...	OMIM:603511
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu...	OMIM:611556
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c...	OMIM:254110
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexion contracture, In...	ORPHA:171442
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car...	OMIM:300580
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Skeletal muscle hypertrophy, Right bundle branch block, Elevated circulating creatine kinase conc...	OMIM:613158
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:601846
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra...	OMIM:255160
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12	Limb-girdle muscle weakness, Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:616094
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy	OMIM:160570
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ...	OMIM:253601
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Congestive heart ...	ORPHA:206546
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r...	OMIM:613204
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Elevated circulating crea...	ORPHA:267
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Muscular Dystrophy, Limb-Girdle, Type 1H	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C...	OMIM:613530
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Elevated circulating creatine...	OMIM:613205
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Ankl...	OMIM:613818
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
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
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss...	OMIM:613155
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Elevated circulating creatine k...	OMIM:617072
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:613152
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo...	OMIM:158901
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Elevated circulating creatine kinas...	OMIM:310200
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy	ORPHA:79281
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Elevated circulating creatine kinase con...	OMIM:158900
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Flexion contracture, Elevated circulating creatine kinase concentration,...	OMIM:613723
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Left ...	ORPHA:171445
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Elevated circulating creatine kinase concentration, Fle...	OMIM:253600
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Calf muscle pseudohypertrophy, Scapular winging, Elevated circulating creatine kinase concentrati...	ORPHA:62
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopath...	OMIM:602541
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Facial palsy, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ...	OMIM:619424
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	OMIM:607855
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Limb musc...	OMIM:161800
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi...	OMIM:614302
Grange Syndrome	Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,...	OMIM:602531
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Facial palsy, Elevated circulating creatine kinase concent...	OMIM:613156
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie...	ORPHA:598
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction	OMIM:615812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Achilles tendo...	OMIM:607155
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, 3	Congenital muscular dystrophy, Elevated circulating creatine kinase concentration, Muscular dystr...	OMIM:613151
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype...	OMIM:613157
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ...	OMIM:615959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, El...	OMIM:608840
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Reduced forced vital capacit...	OMIM:617066
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle	OMIM:255100
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Elevated circulating creatine kinase concentration, Dyspnea, Ragged-red muscle fibe...	OMIM:615084
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy	Muscular dystrophy	OMIM:253590
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ...	OMIM:611588
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn...	ORPHA:399058
Muscular Dystrophy, Congenital, With Rapid Progression	Congenital muscular dystrophy	OMIM:254100
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300696
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent...	ORPHA:324604
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy	OMIM:609016
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98853
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Left bundle branch...	OMIM:608758
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ...	OMIM:255310
Muscular Dystrophy, Mabry Type	Late-onset muscular dystrophy	OMIM:310000
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Myop...	OMIM:615980
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Creatine Phosphokinase, Elevated Serum	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I...	OMIM:123320
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Hemochromatosis, Type 2A	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy	OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Congenital muscular dystrophy	OMIM:254000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	ORPHA:352447
Congenital Myopathy 3 With Rigid Spine	Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contrac...	OMIM:602771
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98855
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kin...	OMIM:615351
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor...	ORPHA:2041
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Reduced vital capacity, Centrally nucleated skel...	OMIM:608358
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con...	ORPHA:610
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Facial palsy, Elevated circulating creatine kinase co...	OMIM:606612
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
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, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Neonatal respiratory distress, Motheaten muscle fibers, Muscular dystrophy, Increased variability...	OMIM:226670
Tangier Disease	Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop...	ORPHA:31150
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red m...	ORPHA:1349
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car...	OMIM:208000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Musc...	OMIM:615350
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, Abnormal circulating crea...	ORPHA:369840
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao...	ORPHA:3400
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhabdomyolysis, Di...	OMIM:618120
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Muscular dystrophy	OMIM:204730
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Telan...	ORPHA:459033
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib...	OMIM:616470
Hypoalphalipoproteinemia, Primary, 1	Myocardial infarction, Premature coronary artery atherosclerosis	OMIM:604091
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Nathalie Syndrome	Abnormal EKG, Skeletal muscle atrophy	OMIM:255990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy	OMIM:614830
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase concentration, My...	ORPHA:732
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Respiratory ins...	OMIM:613153
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac...	ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Elevated circulating creatine kinase concentration, Ankle flexion contractu...	OMIM:608799
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	ORPHA:98896
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ...	OMIM:616501
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Respiratory insufficiency due to muscle we...	OMIM:254090
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Fle...	ORPHA:367
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:609015
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Increased muscle lipid content, Myopathy	OMIM:610717
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis	OMIM:231530
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Congenital muscular dystrophy	ORPHA:1875
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type...	ORPHA:171433
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Aspira...	ORPHA:258
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Elevated...	OMIM:164310
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Increased variability in muscle fiber diameter	OMIM:613752
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis	OMIM:607685
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy	OMIM:620270
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear...	ORPHA:398124
Glycogen Storage Disease Iii	Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy	OMIM:232400
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block...	OMIM:310300
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy	ORPHA:391457
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:615181
Mcleod Syndrome	Atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, ...	OMIM:300842
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re...	OMIM:619167
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Joint contracture, Flexion contracture	OMIM:608540
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Shwachman-Diamond Syndrome 1	Myocardial necrosis	OMIM:260400
Childhood-Onset Nemaline Myopathy	Scapular winging, Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexi...	ORPHA:171439
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy	OMIM:618243
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular...	ORPHA:3287
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Elevated circulating acylcarnitine concentration, Congestive heart failure,...	ORPHA:99901
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Myopathy	ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	OMIM:618234
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Sudden cardi...	OMIM:201475
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial...	ORPHA:329336
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest...	ORPHA:2326
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos...	OMIM:194050
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Stroke	OMIM:611126
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, T...	ORPHA:264675
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:618237
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f...	OMIM:614299
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Third he...	ORPHA:1329
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis	OMIM:608320
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Myopathy, Abnormal circulating creatine kinase concentration, Muscular d...	ORPHA:559
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Arrhythmia, Facial palsy	ORPHA:68
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis	OMIM:619433
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi...	ORPHA:75249
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Elevated circulating crea...	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	OMIM:253800
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac...	OMIM:619040
Congenital Myopathy 21 With Early Respiratory Failure	Elevated circulating creatine kinase concentration, Dyspnea, EMG: myopathic abnormalities, Respir...	OMIM:620326
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Abnormal mitral valve morpholog...	ORPHA:1192
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum a...	ORPHA:2257
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy	ORPHA:295
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator...	OMIM:616414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Respiratory insufficiency due to muscle weakness, Flexion contracture, Elevated circulating creat...	OMIM:615249
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati...	OMIM:613327
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dyspnea, Achilles te...	OMIM:615418
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula...	OMIM:212138
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Congenital muscular dystrophy	ORPHA:324416
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab...	ORPHA:980
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M...	ORPHA:254886
Proximal Myopathy With Extrapyramidal Signs	Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam...	ORPHA:401768
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis	OMIM:610947
Gm1-Gangliosidosis, Type I	Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Cherry red spo...	OMIM:230500
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath...	OMIM:614921
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy	OMIM:618229
Carnitine Deficiency, Systemic Primary	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopathy, Reduced m...	OMIM:212140
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Hemochromatosis, Type 2B	Congestive heart failure, Cardiomyopathy	OMIM:613313
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar...	OMIM:126320
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Respiratory failure, Elevated circulating creatin...	OMIM:616538
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-output congestive heart ...	ORPHA:423
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Cardiom...	OMIM:608836
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am...	ORPHA:66634
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy	ORPHA:67048
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ...	OMIM:249270
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a...	OMIM:616866
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo...	ORPHA:521411
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardiomegaly, Perica...	ORPHA:555874
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies	OMIM:616549
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper...	OMIM:615382
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Dyspnea, Patent ductus arterios...	OMIM:610505
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy	OMIM:613561
Paget Disease Of Bone 6	Left ventricular hypertrophy, Coronary artery atherosclerosis	OMIM:616833
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology	ORPHA:93476
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu...	OMIM:264800
Heart Block, Congenital	Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros...	OMIM:234700
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia	OMIM:606069
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Tachypnea, Distal...	OMIM:604320
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Hypoalphalipoproteinemia, Primary, 2	Tendon xanthomatosis, Premature coronary artery atherosclerosis	OMIM:618463
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:228305
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentration, Glycoge...	ORPHA:368
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car...	OMIM:212350
Isolated Right Ventricular Hypoplasia	Fatigue, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure...	ORPHA:439
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis	ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Dpm1-Cdg	Camptodactyly, Elevated circulating creatine kinase concentration, Muscular dystrophy, Knee flexi...	ORPHA:79322
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart failure, Flexion c...	ORPHA:1194
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz...	ORPHA:79083
Sitosterolemia 2	Tendon xanthomatosis, Premature coronary artery atherosclerosis	OMIM:618666
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind...	ORPHA:2299
Scimitar Syndrome	Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing...	ORPHA:185
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps...	ORPHA:254892
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Post...	ORPHA:3092
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,...	ORPHA:2348
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora...	ORPHA:88630
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc...	OMIM:615703
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough	OMIM:263000
Neuraminidase Deficiency	Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Cardiomyopathy, Cherry red spot of...	OMIM:256550
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Tangier Disease	Myocardial infarction, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Coronary...	OMIM:205400
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Acute Lung Injury	Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Di...	ORPHA:178320
Glycogen Storage Disease Iv	Cardiomyopathy, Arthrogryposis multiplex congenita, Portal hypertension, Skeletal muscle atrophy	OMIM:232500
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy...	OMIM:615895
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio...	ORPHA:85443
Alg1-Cdg	Cardiomyopathy, Abnormal heart morphology	ORPHA:79327
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Facial palsy	ORPHA:772
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hypertrophic cardiomyopathy, Telangiectasia of the skin, Generalized amyotrophy, Telangiectasia	ORPHA:79279
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Elevated circulating creatine kinase...	OMIM:613154
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276556
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, No...	ORPHA:36238
Cyclic Vomiting Syndrome	Cardiomyopathy	OMIM:500007
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Episodic tachypnea, Hyperammonemia, Elevated circulating suberic acid c...	OMIM:615160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Macroglossia, Co...	OMIM:613150
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula...	OMIM:614294
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Cardiac conduction abnormality, Dyspnea, Ragged-red muscle fibers, Low plasma citrulline, ...	ORPHA:255210
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Stroke-like episode, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morpho...	ORPHA:70472
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L...	ORPHA:57777
Adrenal Hypoplasia, Congenital	Hyponatremia, Muscular dystrophy	OMIM:300200
Walker-Warburg Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormal circulat...	ORPHA:899
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Dihydrolipoamide Dehydrogenase Deficiency	Hypertrophic cardiomyopathy	OMIM:246900
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy	ORPHA:3173
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Heparin Cofactor Ii Deficiency	Post-angioplasty coronary artery restenosis	OMIM:612356
Hemochromatosis, Type 3	Cardiomyopathy	OMIM:604250
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276575
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di...	ORPHA:363623
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u...	OMIM:620085
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276580
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr...	OMIM:615355
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block	OMIM:530000
Alstrom Syndrome	Hypertension, Dilated cardiomyopathy, Congestive heart failure, Atherosclerosis	OMIM:203800
Propionic Acidemia	Apnea, Cerebellar hemorrhage, Tachypnea, Hyperammonemia, Cardiomyopathy, Hyperglycinemia, Limb hy...	OMIM:606054
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion, ...	ORPHA:1666
Hemochromatosis, Type 1	Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia	OMIM:235200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Eleva...	ORPHA:308552
Pyruvate Dehydrogenase E3 Deficiency	Cardiomyopathy, Abnormal cardiac ventricular function	ORPHA:2394
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Crackles, Pericardial effusion, Nonproduct...	ORPHA:79126
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature	OMIM:201470
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy	OMIM:618241
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Combined Oxidative Phosphorylation Deficiency 33	Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy	OMIM:617713
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Cardiac myxoma, Pulmonic valve m...	ORPHA:615
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy	OMIM:300438
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T...	ORPHA:2872
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus...	OMIM:619705
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber diameter, Hype...	OMIM:604377
Joubert Syndrome 32	Hypertrophic cardiomyopathy	OMIM:617757
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Alg3-Cdg	Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Coarctation of the descending a...	ORPHA:79321
Dominant Beta-Thalassemia	High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hypoplasia of the muscu...	ORPHA:231226
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Rhabdomyosarcoma, Coarctation of aorta, Abnormal aortic morphology, Muscula...	ORPHA:1052
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,...	ORPHA:70587
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Stroke	ORPHA:79312
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Decreased serum iron, Flexion contracture, Dilated cardiomyopathy, Decre...	ORPHA:89842
Carnitine-Acylcarnitine Translocase Deficiency	Sudden episodic apnea, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Ventricu...	ORPHA:159
American Trypanosomiasis	Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:3386
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Abnormal atrioventricular conduction, Supraventricular arrhythmia, P...	ORPHA:280365
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ...	ORPHA:2461
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy	ORPHA:324525
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis, Abnormal hea...	ORPHA:26791
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Limb hypertonia	OMIM:617710
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy	OMIM:619046
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Refsum Disease	Heart block, Cardiomyopathy, Skeletal muscle atrophy	ORPHA:773
Sweet Syndrome	Small vessel vasculitis, Dilated cardiomyopathy, Myositis	ORPHA:3243
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi...	ORPHA:251071
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,...	OMIM:610978
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Tachypnea, Hyperhomocystinem...	OMIM:614857
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy	OMIM:619386
Beta-Thalassemia Major	High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hypoplasia of the muscu...	ORPHA:231214
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect	OMIM:620024
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6	Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ...	ORPHA:219
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy	OMIM:618437
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology	OMIM:618250
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy	ORPHA:369
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Coronary artery atherosclerosis	ORPHA:79084
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor...	OMIM:232300
Cornelia De Lange Syndrome 2	Hypertrophic cardiomyopathy	OMIM:300590
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy	ORPHA:544469
Leopard Syndrome 2	Hypertrophic cardiomyopathy	OMIM:611554
Citrullinemia Type I	Elevated plasma citrulline, Torticollis, Tachypnea, Hyperammonemia	ORPHA:247525
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Vici Syndrome	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,...	OMIM:242840
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy	ORPHA:27
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:614643
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt...	ORPHA:3260
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea...	ORPHA:542323
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Cardiac arrest, Dilated cardiomyopathy, Tachypnea, Hyperammonemia, Hyperuricemia, Hypotension	ORPHA:20
Hepatorenocardiac Degenerative Fibrosis	Hypertrophic cardiomyopathy, Portal hypertension	OMIM:619902
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath...	ORPHA:465508
Epidermolysis Bullosa Simplex With Pyloric Atresia	Flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy	ORPHA:158684
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy	OMIM:616541
Neu-Laxova Syndrome	Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy, Aplasia/Hypoplasia involving th...	ORPHA:2671
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus	ORPHA:1842
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest	OMIM:620167
Congenital Sialidosis Type 2	Cherry red spot of the macula, Abnormal EKG, Abnormal heart morphology, Telangiectasia	ORPHA:93400
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized...	ORPHA:98908
Lipodystrophy, Familial Partial, Type 1	Hypertension, Prominent superficial veins, Coronary artery atherosclerosis	OMIM:608600
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Lower limb amyotrophy	ORPHA:496790
Bacterial Toxic-Shock Syndrome	Shock, Respiratory distress, Myositis, Tachycardia, Sinusitis, Elevated circulating creatine kina...	ORPHA:36234
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes...	OMIM:616878
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
Tetanus	Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tachypnea,...	ORPHA:3299
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor...	ORPHA:363618
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyopathy, Myopath...	ORPHA:79086
Noonan Syndrome 5	Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:611553
Methionine Malabsorption Syndrome	Tachypnea, Positive ferric chloride test	OMIM:250900
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy	OMIM:618839
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopath...	OMIM:615688
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Elevated circulating C-reactive protein concentration, Raynaud...	OMIM:615934
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Strok...	ORPHA:79282
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Congenital Generalized Lipodystrophy	Prominent superficial veins, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia,...	ORPHA:528
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy	ORPHA:353298
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre...	OMIM:176670
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, H...	ORPHA:3426
Combined Oxidative Phosphorylation Deficiency 5	Hypertrophic cardiomyopathy	OMIM:611719
Carnitine Palmitoyltransferase Ii Deficiency	Rhabdomyolysis, Renal tubular epithelial necrosis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:157
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Myopathy	OMIM:614922
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy...	ORPHA:273
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia...	ORPHA:247691
Glycerol Kinase Deficiency	Myopathy, Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia	OMIM:307030
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy	OMIM:619053
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrioventricular bl...	OMIM:619573
Joubert Syndrome 7	Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:611560
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr...	ORPHA:2556
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Apnea, Episodic tachypnea, Abnormal heart morphology, Aspiration pneumonia	ORPHA:79264
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	ORPHA:99725
Neutral Lipid Storage Disease With Ichthyosis	Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid dropl...	ORPHA:98907
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Noonan Syndrome 10	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coarctation of aorta,...	OMIM:616564
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter...	ORPHA:354
Wolfram Syndrome 1	Cardiomyopathy, Stroke-like episode	OMIM:222300
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation...	OMIM:265120
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi...	OMIM:615415
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Car...	ORPHA:365
Beta-Thalassemia	Hypertrophic cardiomyopathy	ORPHA:848
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist...	ORPHA:70591
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Heart block, Renal tubular epithelial necrosis, Cardiomyopathy, Abnormal myocardium...	ORPHA:228308
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Tachypnea, Hypertension, Hypotension	ORPHA:43116
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul...	OMIM:615838
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy	ORPHA:5
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Premature coronary artery atherosclerosis	OMIM:620058
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi...	ORPHA:3071
Abdominal Obesity-Metabolic Syndrome 4	Accelerated atherosclerosis, Hypertension, Coronary artery atherosclerosis, Myocardial infarction	OMIM:618620
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti...	ORPHA:466677
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy	OMIM:619121
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D...	OMIM:610921
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Premature coronary artery atherosclerosis	ORPHA:140905
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy	OMIM:618835
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Amyloidosis, Hereditary, Transthyretin-Related	Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardio...	OMIM:105210
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Right ventricular failure, Abnormal circulating calcium concentration...	ORPHA:60025
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Stroke, ...	ORPHA:480864
Vici Syndrome	Cardiomyopathy	ORPHA:1493
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta...	OMIM:607426
Congenital Enterovirus Infection	Pericardial effusion, Cardiomyopathy, Myocarditis, Hypotension	ORPHA:292
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Coronary artery atherosclerosis, Ventr...	ORPHA:36913
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Tachypnea, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Joubert Syndrome 3	Atrial septal defect, Episodic tachypnea, Neonatal breathing dysregulation, Central apnea	OMIM:608629
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Agel Amyloidosis	Cardiomyopathy, Arrhythmia, Facial palsy, Orthostatic hypotension due to autonomic dysfunction	ORPHA:85448
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:619383
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Hypocapnia, ...	ORPHA:466650
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge...	OMIM:601992
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology	OMIM:217980
Dysbetalipoproteinemia	Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Tendon xanthomatosi...	ORPHA:412
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology	ORPHA:886
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy	ORPHA:95
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Dyspnea, Tachypnea, Hypophosphatemia	OMIM:239200
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
1P36 Deletion Syndrome	Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger, Patent ductus art...	ORPHA:1606
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Abnormal blood io...	ORPHA:79404
Hurler Syndrome	Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Cardiomyopathy, Hypert...	ORPHA:93473
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap...	ORPHA:348
Cantú Syndrome	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Hermansky-Pudlak Syndrome 1	Hematochezia, Cardiomyopathy, Epistaxis	OMIM:203300
Aicardi-Goutieres Syndrome 1	Cardiomyopathy, Vasculitis	OMIM:225750
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy	OMIM:618810
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Scleromyxedema	Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal skel...	ORPHA:167635
Hurler Syndrome	Aortic regurgitation, Flexion contracture, Cardiomyopathy, Mitral regurgitation, Macroglossia, En...	OMIM:607014
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hypertrophic cardiomyopathy, Skeletal muscle steatosis	ORPHA:436271
Cholera	Hyponatremia, Tachycardia, Tachypnea, Abnormal blood ion concentration, Hypovolemic shock, Hypoka...	ORPHA:173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Congenital contracture, Congenital muscular dystrophy, Elevated circulating creatine kinase conce...	OMIM:236670
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy	OMIM:616051
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca...	OMIM:619745
Mucopolysaccharidosis, Type Vii	Abnormal heart valve morphology, Diastasis recti, Flexion contracture, Macroglossia, Cardiomyopathy	OMIM:253220
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Generalized amyotrophy, Limb hypertonia	ORPHA:572798
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Hyperammonemia	ORPHA:79242
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypoperistalsis, Patent ductus arteriosus, Tachypnea, Hypertension, Atrial septal defect, Pulmona...	OMIM:613834
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval, Skeletal muscle atrophy	OMIM:312750
Mucopolysaccharidosis Type 2	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi...	ORPHA:580
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy	ORPHA:445038
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration	ORPHA:3095
Toriello-Carey Syndrome	Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog...	ORPHA:3338
Joubert Syndrome 9	Apnea, Episodic tachypnea	OMIM:612285
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Flexion...	ORPHA:505248
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Weakness of facial musculature, Hypertrophic cardiomyopathy, Increased intramyocellular lipid dro...	OMIM:220110
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Patent ductus arteriosus, Flexion contracture, Macroglossia, Atrial sep...	OMIM:617303
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Congestive heart failure, Abnormal tendon morphology, Abnormal a...	ORPHA:579
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217085
Martsolf Syndrome 1	Cardiomyopathy, Cardiac arrest, Congestive heart failure	OMIM:212720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:615287
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217093
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Ascending tubular a...	OMIM:617403
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Flexion contracture, Cardiomyopathy, Mitral regurgitation, Macroglossia,...	OMIM:253200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cardiomyopathy, Skeletal muscle atrophy, Increased sarcoplasmic glycogen	ORPHA:264580
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia	ORPHA:2131
Gm1 Gangliosidosis Type 1	Macroglossia, Cardiomyopathy, Cherry red spot of the macula	ORPHA:79255
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication	ORPHA:416
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Patent ductus arteriosus, Ragged-red muscle fibers, Flexion contracture,...	ORPHA:17
Apolipoprotein A-I Deficiency	Atherosclerosis, Angina pectoris, Premature coronary artery atherosclerosis	ORPHA:425
Pyruvate Dehydrogenase Deficiency	Dyspnea, Tachypnea	ORPHA:765
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep...	ORPHA:137675
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta...	ORPHA:444072
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:253280
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy	ORPHA:3463
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Patent ductus arteriosus	OMIM:615398
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy	OMIM:616084
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Pericardial effusion, Flexion contracture, Stroke-like episode, Cardiomyopathy	OMIM:212065
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Beta-Ketothiolase Deficiency	Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, Cough	ORPHA:134
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Dilated cardiomyopat...	ORPHA:2388
Gitelman Syndrome	Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyolysis, Low-to-normal bl...	ORPHA:358
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria...	ORPHA:2637
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemia, Hypoornithi...	OMIM:615751
Leopard Syndrome 1	Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola...	OMIM:151100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Flexion contracture, Foot joint contracture	ORPHA:79408
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
Rh Deficiency Syndrome	Tachycardia, Tachypnea, Hypoxemia, Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Isolated Complex I Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue	ORPHA:2609
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyop...	ORPHA:90324
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Macroglossia, Ventricular septal defect	ORPHA:769
Oculoectodermal Syndrome	Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:600268
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope	ORPHA:230
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Cardiomegaly, Tachypnea, Respiratory insufficiency, Hepatocellular necro...	OMIM:618278
Hypercholesterolemia, Familial, 1	Tendon xanthomatosis, Coronary artery atherosclerosis	OMIM:143890
Cartilage-Hair Hypoplasia	Heart block, Cardiomyopathy, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the abdomi...	ORPHA:175
Joubert Syndrome	Situs inversus totalis, Apnea, Episodic tachypnea, Abnormal pattern of respiration	ORPHA:475
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Abnormal pattern of respiration, T...	ORPHA:3008
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy	OMIM:618329
Hereditary Spherocytosis	Restrictive cardiomyopathy	ORPHA:822
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hypotension	ORPHA:361
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Hughes-Stovin Syndrome	Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ...	ORPHA:228116
Postinfectious Vasculitis	Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti...	ORPHA:48435
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperammonemia, Hyperventilation	OMIM:253270
Beckwith-Wiedemann Syndrome	Macroglossia, Cardiomyopathy, Diastasis recti, Cardiomegaly	OMIM:130650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C...	ORPHA:373
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis	ORPHA:79430
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Diastasis recti, Cardiomegaly, Congestive heart failure, Heart murmur, Macr...	OMIM:252500
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Hypovolemia, Peripheral arterial stenosis, Elevated diast...	ORPHA:90041
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea	ORPHA:2318
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Cardiomyopathy, Patent ductus arteriosus, Aortic root aneurysm	OMIM:135500
Trichothiodystrophy	Cardiomyopathy, Multiple joint contractures, Ventricular septal defect	ORPHA:33364
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypertrophic cardiomyopathy, Portal hypertension, Hypomimic face	ORPHA:309854
Familial Thrombocytosis	Transient ischemic attack, Peripheral arterial stenosis, Syncope, Cerebral ischemia, Pulmonary ar...	ORPHA:71493
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:369837
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Ragged-red muscle fibers, Concentric hypertrophic cardiomyopathy, Increa...	OMIM:252010
Biotinidase Deficiency	Tachypnea, Apnea, Hyperammonemia	OMIM:253260
Cardiofaciocutaneous Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten...	ORPHA:1340
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Calcification of the aor...	ORPHA:51
Atypical Werner Syndrome	Skeletal muscle atrophy, Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebr...	ORPHA:79474
Joubert Syndrome 1	Central apnea, Macroglossia, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:213300
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Generalized muscular appearance from birth	OMIM:608594
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:607721
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Hypertrophic cardiomyopathy	OMIM:616539
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363958
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Hyperammonemia, Hypertens...	OMIM:220111
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy	OMIM:613673
Johanson-Blizzard Syndrome	Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A...	OMIM:243800
Castleman Disease	Restrictive cardiomyopathy	ORPHA:160
Aicardi-Goutieres Syndrome 7	Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyo...	OMIM:615846
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis	OMIM:209010
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease	ORPHA:397715
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ...	OMIM:218040
Rajab Interstitial Lung Disease With Brain Calcifications 1	Portal hypertension, Tachypnea, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, ...	OMIM:613658
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Generalized muscular appearance from birth, Ventricular septal hyper...	OMIM:269700
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology...	ORPHA:904
Lcat Deficiency	Atherosclerosis, Premature coronary artery atherosclerosis	ORPHA:650
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Renova...	ORPHA:97685
Hyperoxaluria, Primary, Type I	Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventricular block, Int...	OMIM:259900
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:565
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Abnormal heart morphology	ORPHA:2754
Pearson Syndrome	Cardiomyopathy, Cardiac conduction abnormality, Abnormal heart morphology	ORPHA:699
Gastrocutaneous Syndrome	Coronary artery atherosclerosis	ORPHA:2069
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Cerebrotendinous Xanthomatosis	Precocious atherosclerosis, Tendon xanthomatosis, Abnormal atrial septum morphology, Distal amyot...	ORPHA:909
Fanconi Anemia	Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A...	ORPHA:84
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,...	ORPHA:3472
Lysosomal Acid Lipase Deficiency	Precocious atherosclerosis, Bone-marrow foam cells, Hypovolemia, Stroke, Hypotension, Pulmonary a...	ORPHA:275761
Cutis Marmorata Telangiectatica Congenita	Arteriovenous malformation, Patent ductus arteriosus, Telangiectasia of the skin, Arterial stenosis	ORPHA:1556
Tyrosinemia, Type I	Melena, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage	OMIM:276700
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular...	ORPHA:3385
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Rhabdomyolysis, Hypertrophic cardiomyopathy, Ragged-red muscle fibers	OMIM:124000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis	ORPHA:209902
Joubert Syndrome 2	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:608091
Noonan Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr...	OMIM:163950
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperornithinemia, Tachypnea, Abnormal circulating citrulline concentration, Hyperammonemia	ORPHA:415
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Pa...	OMIM:312870
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Facial palsy	ORPHA:1328
Vascular Ehlers-Danlos Syndrome	Peripheral arteriovenous fistula, Telangiectasia of the skin, Abnormal heart valve morphology, Tr...	ORPHA:286
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Increased blood urea nitrogen, Restrictive ventilatory defec...	OMIM:233450
Hypercholesterolemia, Familial, 2	Coronary artery atherosclerosis	OMIM:144010
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Pulmonar...	ORPHA:96334
Acromegaly	Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:963
Somatomammotropinoma	Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:314769
Arima Syndrome	Dyspnea, Hypertension, Tachypnea	OMIM:243910
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Atrial s...	OMIM:270400
Leprechaunism	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:508
Estrogen Resistance Syndrome	Coronary artery atherosclerosis	ORPHA:785
Beckwith-Wiedemann Syndrome	Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma,...	ORPHA:116
Chronic Visceral Acid Sphingomyelinase Deficiency	Cherry red spot of the macula, Abnormal heart valve morphology, Coronary artery atherosclerosis	ORPHA:77293
Orofaciodigital Syndrome Type 2	Atrioventricular canal defect, Tachypnea, Apnea	ORPHA:2751
Sitosterolemia 1	Coronary artery atherosclerosis, Carotid artery stenosis	OMIM:210250
Alström Syndrome	Respiratory distress, Hypertriglyceridemia, Portal hypertension, Congestive heart failure, Hyperl...	ORPHA:64
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus	ORPHA:480880
Joubert Syndrome 5	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:610188
Neurofibromatosis Type 1	Hypertension, Arterial stenosis	ORPHA:636
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Yunis-Varon Syndrome	Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo...	OMIM:216340
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Hyperlipoproteinemia, Type Id	Premature coronary artery atherosclerosis	OMIM:615947
Pallister-Killian Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion con...	OMIM:601803
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial effusion, Intracranial he...	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 Sgcd

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 Sgcd.

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

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MGI Allele	Allele Type	Produced
Sgcd^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Sgcd^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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