Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Iroquois homeobox 4
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Irx4 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.

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

The table below shows human diseases predicted to be associated to Irx4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... OMIM:611880
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Lef... OMIM:613876
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic... OMIM:613172
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol... OMIM:614676
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Reduced left ventricular ejection fraction, Elevated left ventricular en... OMIM:612201
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricula... OMIM:613874
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Ethanolaminosis
Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus... OMIM:611615
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ... OMIM:613255
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,... OMIM:604286
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ... ORPHA:206546
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Hip flexor weakness, Distal lower limb muscle weakness, Cardiomyopathy, Intrinsic hand muscle atr... ORPHA:63273
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Sca... OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 28
Left atrial enlargement, Systolic anterior motion of the mitral valve, Concentric hypertrophic ca... OMIM:619402
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type grouping, Interosseus muscle... OMIM:619903
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Myopathy, Distal, 4
Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di... OMIM:614065
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Hypertrophic car... OMIM:619424
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a... ORPHA:34515
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... ORPHA:154
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Calf muscle hypertrophy, Reduced systolic function, Skeletal muscle atrophy, ... OMIM:616827
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa... OMIM:600334
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Myopathy, Distal, 1
Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an... OMIM:160500
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Dilated car... OMIM:300718
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Dilated cardiomyopathy, Pelvic gird... ORPHA:263494
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul... ORPHA:206559
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Dil... OMIM:300580
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy OMIM:615981
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, L... OMIM:108900
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Cardiomyopathy, Distal lower limb muscle weakness, Leg muscle stiffness ORPHA:320360
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia ORPHA:324588
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Cardi... ORPHA:602
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle... ORPHA:86812
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr... OMIM:255160
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h... ORPHA:98912
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Card... OMIM:301075
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr... OMIM:611878
Hemochromatosis, Type 2A
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dilated cardiom... OMIM:602390
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Atrioventricular canal defect, Cardiome... ORPHA:3092
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle... OMIM:608807
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Distal Nebulin Myopathy
Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Nemaline bodies, Weaknes... ORPHA:399103
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ... ORPHA:98911
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Elbow flexion contra... OMIM:619040
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Left ventricular hy... OMIM:619048
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Laing Early-Onset Distal Myopathy
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc... ORPHA:59135
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly OMIM:607685
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart... ORPHA:57777
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b... OMIM:609200
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... OMIM:612999
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopa... OMIM:609308
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Hy... OMIM:300280
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:618228
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Supraventricular tachycardia, Cardiomyopathy, Myopathy OMIM:255100
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Left ventric... OMIM:615418
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Limb muscle weakness, Cardiomyopathy, Nemaline bodies, Global systolic dysfunction OMIM:606842
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Wolff-Parkinson-White syndrome, Dist... OMIM:619566
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb muscle weakness, Arthrogryposis... OMIM:161800
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventr... ORPHA:444013
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature, Dila... OMIM:615959
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Knee flexion contracture, Noncompaction cardiomyopathy, Dis... ORPHA:3208
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic even... OMIM:610198
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Cardiomyopat... ORPHA:399058
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Arrhythmia ORPHA:35
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Hypertension, Hypertrophic cardiomyopathy, Di... ORPHA:1349
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Autophagic vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Myofib... OMIM:609452
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... OMIM:300696
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Congenital Myopathy 24
Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree atrioventricular bl... OMIM:617336
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Limb-girdle muscle w... OMIM:615352
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Increased endomysial connective tissue,... OMIM:602541
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertrophy, Atrial septal defec... OMIM:615355
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Muscular dystrophy, Knee flexion contracture, Calf muscle pseudohypertr... OMIM:310200
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Congenital Myopathy 4A, Autosomal Dominant
Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m... OMIM:255310
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Skeletal muscle hypertrophy, Facial pa... OMIM:613156
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti... OMIM:620609
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion con... ORPHA:272
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Flexion contracture, Left ventricular hypertrophy OMIM:616733
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ... OMIM:615084
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Reduced systolic function OMIM:618805
Dk1-Cdg
Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Arrhythmia, D... ORPHA:91131
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Myopathy OMIM:617713
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Cardiomyopathy, Finger joint contracture, Telangiectasia of the skin, Dilated cardiomyopathy, Mit... OMIM:212112
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula... OMIM:620152
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Coronary Arterial Fistula
Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte... ORPHA:2041
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Calf muscle hypertrophy, Achilles tendon contracture, Thigh hypertrophy, Dila... OMIM:607155
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Atrial fibrillation, Supraventricular arrhythmia, Hypertro... ORPHA:75249
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmo... OMIM:619433
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Weakness of facial musculature, Dil... ORPHA:352447
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Facial diplegia, Scapular winging, Facial palsy, Generalized amy... ORPHA:169186
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Joint contracture, Flexion contracture, Splenomegaly OMIM:608540
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Tangier Disease
Hepatomegaly, Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Myo... OMIM:205400
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa... ORPHA:732
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Dilated cardiomyopathy OMIM:615821
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Familial Atrial Myxoma
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon... ORPHA:615
Glycogen Storage Disease Iii
Hepatomegaly, Distal amyotrophy, Ventricular hypertrophy, Cardiomyopathy, Myopathy OMIM:232400
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Hemochromatosis, Type 2B
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:613313
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage ORPHA:280679
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Hypoplastic left heart OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Cardiomyopathy OMIM:613752
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction OMIM:208000
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis, Splenomegaly, Dilated cardiomy... OMIM:300842
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Hepatomegaly, Abnormal heart morphology, Splenomegaly, Arrhyt... ORPHA:398124
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... ORPHA:251274
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop... OMIM:608810
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Cerebral hemorrhage, Left ventricular dilatation, Dilated c... OMIM:620300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Congestive heart failure, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Skeletal muscle ... ORPHA:367
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Cardiomyopathy, Flexion contracture, M... OMIM:613155
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g... ORPHA:119
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:93476
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:611126
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation ORPHA:401923
Myopathy, Myofibrillar, 6
Muscular dystrophy, Restrictive cardiomyopathy, Scapular winging, Facial palsy, Hypertrophic card... OMIM:612954
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Skeletal myopathy, Rhabdomyoly... ORPHA:746
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Collagenoma, Familial Cutaneous
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card... OMIM:115250
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic v... OMIM:615382
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Left ventricular hypertrophy ORPHA:93952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:335
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c... OMIM:619051
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:254913
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Hypertrop... OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Wolff-Parkinson-White syndrome, Hepatomegaly, Hypertrophic cardiomyopat... OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Myopathy ORPHA:26792
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Barth Syndrome
Congestive heart failure, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Skeletal myopathy... OMIM:302060
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Prolonged QT interval, Patent foramen ovale, Pericardial effu... ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Fabry Disease
Congestive heart failure, Ventricular septal hypertrophy, Angina pectoris, Hypertension, Transien... OMIM:301500
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Myopathy, Hypertrophic cardiomyopathy OMIM:618237
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnormalities, Hypertrophic cardi... ORPHA:99901
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly OMIM:266500
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hepatomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopa... OMIM:230500
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Pulmonary Hypertension, Primary, 5
Angina pectoris, Pulmonary arterial hypertension, Right ventricular failure, Right ventricular hy... OMIM:265400
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova... OMIM:619343
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat... ORPHA:98909
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Scapular winging, Nemaline bodi... ORPHA:171439
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular septal defect OMIM:249270
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Aortic regurgitation, Abnormal heart valve morphology, Tendon thickening... ORPHA:230851
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Mitral valve prolapse, Left vent... OMIM:616564
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se... OMIM:618652
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Abnormal left ventricle morphology OMIM:300845
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Arrhythmia OMIM:606069
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy, Limb muscle weakness, Skeletal muscle atrop... ORPHA:329336
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure OMIM:605676
Hemochromatosis, Type 1
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Cardiomegaly, T... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Arrhythmia, Dilated cardiomyopathy, Myopathy OMIM:609015
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgitation, Left ventricular hypert... OMIM:619698
Hec Syndrome
Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D... OMIM:300952
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v... ORPHA:1457
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Skeletal muscle atrophy, Cardiomegaly OMIM:256550
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:618321
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Myopathy, Bradycardia, ST segment elevation, Cardiomyo... OMIM:261740
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Rhabdom... OMIM:614921
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly OMIM:269920
Mucolipidosis Type Ii
Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Knee flexion con... ORPHA:576
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Heart murmur, Double out... ORPHA:2326
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Transposition of the great arteries, Calf muscle hypertrophy, Pulmonic stenos... OMIM:253800
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Apparent Mineralocorticoid Excess
Hypertension, Left ventricular hypertrophy ORPHA:320
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Camptodactyly, Flexion contracture, Mitral regu... ORPHA:88630
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:613561
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Autosomal Recessive Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Cardiomyopathy, Scapular winging, Facial palsy, Hand muscle weakness, M... ORPHA:254886
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Ac... ORPHA:3386
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... OMIM:616866
Polyarteritis Nodosa
Pericarditis, Hypertension, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Angi... ORPHA:324
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ven... OMIM:212138
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Exercise-i... OMIM:201475
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal aortic valve morphology, Abnormal heart valve morpholog... ORPHA:3287
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies OMIM:616549
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Atrial septal defect, Left-to-right shunt, Left ventricular hypertrophy OMIM:620510
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomyopathy, Right atrial enlarg... OMIM:619313
Autosomal Dominant Progressive External Ophthalmoplegia
Hypomimic face, Reduced left ventricular ejection fraction, Atrial fibrillation, Ragged-red muscl... ORPHA:254892
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy OMIM:620326
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy ORPHA:70595
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Hematochezia, Splenomegaly, Skeletal musc... OMIM:615895
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Skeletal muscle atrophy, Fl... OMIM:232500
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Prolonged QT interval, Generalized amyotrophy, Diaphragmatic ... ORPHA:66634
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia, Sudden cardiac death ORPHA:156
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ... ORPHA:268
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Increased blood pressure, Hypertension, Portal hypertension, Pericardial effusion, ... OMIM:619487
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hypertrophic cardiomyopathy, Generalized amyotrophy, Telangiectasia of the skin, Te... ORPHA:79279
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Left ventricular... ORPHA:365
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations ORPHA:276556
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemorrhage, Knee flexion contracture, Elbo... OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Left ventricular hypertrophy OMIM:619355
Combined Oxidative Phosphorylation Deficiency 9
Patent foramen ovale, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614582
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Myopathy ORPHA:228305
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Cardiomyopathy, Myopathy ORPHA:1215
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hepatomegaly, Hypertrophic cardiomyop... ORPHA:1194
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy OMIM:300438
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Enlarged kidney, Hepatosplenomegaly, Hypertrophic cardiomyopathy OMIM:619902
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Hepatomegaly, Cardiomyopathy ORPHA:2394
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C... ORPHA:75565
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary... OMIM:620642
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:79312
Infantile Refsum Disease
Facial palsy, Hepatomegaly, Cardiomyopathy, Arrhythmia ORPHA:772
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Facial p... OMIM:164310
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Sengers Syndrome
Cardiac arrest, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Sudden cardiac deat... OMIM:212350
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertroph... OMIM:619705
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension, Decreased heart rate variability OMIM:105120
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy OMIM:618241
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations ORPHA:276575
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Bicuspid aortic valve, Patent foramen ovale, Elbow flexion contr... OMIM:245600
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations ORPHA:276580
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop... ORPHA:330001
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly OMIM:619046
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi... ORPHA:158687
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Mitral regurgitation, Left ventricular hypertrophy OMIM:617168
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness OMIM:619259
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Hepatomegaly OMIM:251110
Vici Syndrome
Congestive heart failure, Cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Dil... OMIM:242840
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Distal arthrogryposis, Arrhythmia, Cardiomegaly, Myopathy ORPHA:42
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,... ORPHA:3342
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl... OMIM:607459
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Rhabdomyolysis, Dilat... OMIM:610505
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation ORPHA:261250
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy ORPHA:70472
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Cardiomyopathy ORPHA:27
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:369
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopat... ORPHA:565612
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Rimmed vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Increase... ORPHA:52430
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract obs... ORPHA:439232
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Left ventricular hypertrophy OMIM:611209
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage ORPHA:99931
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Hypertrophic ... ORPHA:368
Melas
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,... ORPHA:550
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Small thenar eminence, Camptodactyly, Left ventricular hypertrophy OMIM:619148
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation ORPHA:229
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Hepatosplenomegaly, Splenomegaly, Arrhythmia, Dilated cardiomyopat... ORPHA:231226
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:619053
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
D-2-Hydroxyglutaric Aciduria 1
Cardiomyopathy, Aortic regurgitation OMIM:600721
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Muscle fiber necrosis, Fa... OMIM:258450
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo... OMIM:615415
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:848
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopath... OMIM:264800
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Hepatomegaly, Elevated jugular venous pressure, Cardiomyopathy, Portal ... ORPHA:465508
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Harel-Yoon Syndrome
Distal amyotrophy, Hypertrophic cardiomyopathy OMIM:617183
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr... ORPHA:275766
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy OMIM:300590
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature OMIM:201470
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy ORPHA:544469
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Cardiomyopathy, Dilat... ORPHA:363623
Beta-Thalassemia Major
Hepatomegaly, Hypoplasia of the musculature, Hepatosplenomegaly, Splenomegaly, Arrhythmia, Dilate...