Gene Summary

Name:
CAP, adenylate cyclase-associated protein, 2 (yeast)
Synonyms:
2810452G09Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
prolonged ST segment Cap2tm1b(EUCOMM)Wtsi HET Early adult 1.53×10-06
prolonged RR interval Cap2tm1b(EUCOMM)Wtsi HET Early adult 8.90×10-08
decreased mean corpuscular hemoglobin Cap2tm1b(EUCOMM)Wtsi HET Early adult 4.73×10-13
increased red blood cell distribution width Cap2tm1b(EUCOMM)Wtsi HET Early adult 1.98×10-07
prolonged QT interval Cap2tm1b(EUCOMM)Wtsi HET Early adult 2.11×10-05
cataract Cap2tm1e(EUCOMM)Wtsi HET Early adult 6.07×10-07
abnormal locomotor activation Cap2tm1e(EUCOMM)Wtsi HET Early adult 1.17×10-05
preweaning lethality, incomplete penetrance Cap2tm1b(EUCOMM)Wtsi HOM   Early adult 2.92×10-05
decreased circulating triglyceride level Cap2tm1e(EUCOMM)Wtsi HOM Early adult 5.51×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Cap2 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.

The table below shows human diseases associated to Cap2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154

The table below shows human diseases predicted to be associated to Cap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Left bundle branch block, Myofiber disarray, Co... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... OMIM:611615
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... ORPHA:57777
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Cataract 44
Developmental cataract OMIM:616509
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... OMIM:619903
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Calf muscle hypertrophy, Left ventricular hypertr... ORPHA:206546
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... ORPHA:90647
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... OMIM:611705
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... ORPHA:75249
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Myopathy, Myosin Storage, Autosomal Recessive
Fourth heart sound, Congestive heart failure, Right axis deviation, Sinus tachycardia, Calf muscl... OMIM:255160
Muscular Dystrophy, Becker Type
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy OMIM:300376
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... ORPHA:263494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Aniridia 3
Cataract OMIM:617142
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... ORPHA:63273
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles tendon contracture, Muscle fib... OMIM:609200
Myofibrillar Myopathy 10
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Prolon... OMIM:619040
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... ORPHA:1677
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Cardiomyopathy OMIM:613752
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Loeffler Endocarditis
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevati... ORPHA:263297
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... OMIM:616827
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... ORPHA:99103
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Decreased body weight, Short stature, Dilated cardiomyopathy, Recurrent infections, Intrauterine ... OMIM:618097
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral r... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... OMIM:608099
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated card... OMIM:610198
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Chronic Atrial And Intestinal Dysrhythmia
Failure to thrive, Bicuspid aortic valve, Decreased body weight, Pulmonic stenosis, Mitral regurg... OMIM:616201
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Ventricular hypertrophy, Congestiv... OMIM:619048
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... ORPHA:98912
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial palsy, Myopathy OMIM:602541
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... OMIM:613255
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy, Spastic ataxia OMIM:271320
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Trichomegaly
Cataract OMIM:190330
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hypertrophic cardiomyopathy OMIM:618815
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Nemaline Myopathy 3
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, D... OMIM:161800
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... OMIM:616028
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Ventricular Tachycardia, Familial
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block OMIM:192605
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Leg muscle stiffness, Distal lower limb muscle weakness, Cardiomyopathy ORPHA:320360
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Distal Nebulin Myopathy
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foo... ORPHA:399103
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... OMIM:611556
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Sudden death, Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Congestive ... OMIM:192600
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... OMIM:301075
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Myopathy, Centronuclear, 5
Hip contracture, Facial palsy, Dilated cardiomyopathy OMIM:615959
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated car... OMIM:255310
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy OMIM:609500
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Ethanolaminosis
Cardiomegaly OMIM:227150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... OMIM:615351
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Small for gestational age, Tachycardia, Exercise-induced rhab... ORPHA:26793
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Endocardial fibroelas... OMIM:619313
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart ... OMIM:602390
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... ORPHA:437572
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Hypertrophic cardiomyopathy, Growth delay, Congestive heart failure OMIM:615440
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure ORPHA:324588
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy, Facial palsy, Generalized amyotrophy, Proximal amyotrophy OMIM:615084
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Neonatal Lupus Erythematosus
Hepatomegaly, Splenomegaly, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dil... ORPHA:398124
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... OMIM:310200
Dysequilibrium Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:1766
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Abdominal pain, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Hypertriglyceridemia 2
Hypertriglyceridemia, Hypercholesterolemia OMIM:619324
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Rig... ORPHA:70591
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... ORPHA:85451
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy, Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Arrhythmia, Ragged-red muscle fibers, Dilated cardiomyopathy, Myo... ORPHA:352447
Bardet-Biedl Syndrome 2
Obesity, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy OMIM:255100
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Pulmonary embolism, Arrhythmia, Cataract, Abnormal heart valve morphology, Hypert... ORPHA:1345
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... ORPHA:99105
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... OMIM:261740
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... ORPHA:1349
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Left ventricular outf... OMIM:619402
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachyca... OMIM:212138
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Nathalie Syndrome
Cataract ORPHA:2663
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Arrhythmia, Vas... ORPHA:732
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... OMIM:619566
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... ORPHA:272
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Right atrial enlargement, Flexion contracture, Mitral regurgitation, Right bun... OMIM:614008
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Ragged-red muscle fibers, Limb muscle weakness, Cardiom... OMIM:609286
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 23
Intrauterine growth retardation, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:2815
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... OMIM:300952
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... ORPHA:98911
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Dk1-Cdg
Failure to thrive, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Dilated ... ORPHA:91131
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Galactosemia Iv
Cataract OMIM:618881
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... OMIM:615745
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Failure to thrive OMIM:617228
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Attrv30M Amyloidosis
Arrhythmia, Weight loss, Cardiomegaly, Cardiomyopathy, Atrioventricular block ORPHA:85447
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... OMIM:617336
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Dilated cardiomyopathy, Cataract, Microphthalmia, Failure to thrive in infancy, Red... OMIM:618805
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... ORPHA:2041
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Maternally-Inherited Diabetes And Deafness
Myalgia, Arrhythmia, Abnormal chorioretinal morphology, Cataract, Hypertension, Hypertrophic card... ORPHA:225
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epist... ORPHA:251274
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... OMIM:115195
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure OMIM:606703
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Wild Type Attr Amyloidosis
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... ORPHA:330001
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrop... OMIM:619167
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... ORPHA:860
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, ST segment depression, Cerebral ischemia, Syncope, Prolonged Q... ORPHA:90065
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... OMIM:616812
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Sandhoff Disease
Failure to thrive, Recurrent respiratory infections, Congestive heart failure ORPHA:796
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... OMIM:310300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy OMIM:613158
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Ankle flexion contracture, Dilated cardiomyopathy OMIM:618120
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pel... OMIM:607155
Barth Syndrome
Failure to thrive, Tricuspid regurgitation, Exercise intolerance, Recurrent infections in infancy... OMIM:302060
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture OMIM:609308
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure, Chronic infection ORPHA:132
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Congestive heart failure OMIM:301021
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Macrocytic anemia, Hem... ORPHA:71275
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Diaphragmatic eventration, Dilated cardiomyopathy, Prolonged ... ORPHA:66634
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hepatomegaly, Flexion contracture, Skeletal muscle hypertrophy, Splenomegaly, ... OMIM:613327
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure ORPHA:2022
Cardiomyopathy, Dilated, 2E
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
X-Linked Retinoschisis
Cataract ORPHA:792
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive, Small for gestational age, Arrhythmia, Rhabdomyolysis, Dilated cardiomyopathy,... OMIM:609015
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Failure to thrive, Hepatomegaly, Flexion contracture, Hepatospl... ORPHA:367
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... OMIM:609040
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Gombo Syndrome
Abnormal heart morphology, Delayed puberty, Microphthalmia OMIM:233270
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Myofibrillar myopathy, Autophagic vacuoles, Muscle fiber splitting,... OMIM:609452
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Atrial fibrillation, Cardiomy... OMIM:300842
Cataract 47
Cataract, Microcornea OMIM:612018
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... ORPHA:240094
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Conjunctivitis, Ventricular arrhythmia, Chest pain, Chronic m... ORPHA:36913
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Facial palsy, Cardiomyopathy, Myopathy OMIM:201470
Combined Oxidative Phosphorylation Deficiency 22
Failure to thrive, Pulmonary arterial hypertension, Intrauterine growth retardation, Congestive h... OMIM:616045
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythro... ORPHA:98870
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... OMIM:224120
Carnitine Deficiency, Systemic Primary
Failure to thrive, Reduced muscle carnitine level, Hepatomegaly, Cardiomegaly, Endocardial fibroe... OMIM:212140
Galactosemia Ii
Cataract OMIM:230200
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Cerebellar hemorrhage, EMG: myopathic abnormalities, Sudden cardiac death, Dil... ORPHA:99901
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, S... OMIM:113900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... ORPHA:254361
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Cardiomyopathy OMIM:619651
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Drug-Induced Lupus Erythematosus
Constitutional symptom, Myalgia, Prolonged QTc interval, Serositis, Malar rash, Pericarditis, Per... ORPHA:231111
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia, Respiratory infections in early life OMIM:248110
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Abdominal pain, Congestive heart failure OMIM:616794
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Congen... OMIM:613155
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Eczema, Neonatal death, Pulmonary arterial hypertension, Stillbi... OMIM:619751
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Acute rhabdomyolysis, Prolonged QTc interval, Rhabdomyolysis, Ventricular tac... OMIM:616878
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Short stature, Astigmatism, Recurrent lower respir... OMIM:253250
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, P... OMIM:618775
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... ORPHA:86812
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Flexion contracture, Bradycardia OMIM:614498
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Hec Syndrome
Abnormal pupil morphology, Arrhythmia, Endocardial fibroelastosis, Developmental cataract, Cardio... ORPHA:2119
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Large for gestational age, Microphthalmia, Recurrent respiratory in... ORPHA:2432
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Knee flexion contracture... OMIM:612954
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Flexion contracture, EMG: myopathic abnormalitie... ORPHA:171439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Short stature, Paroxysmal atrial tachycardia, Ventricular septal defect, Ca... ORPHA:49827
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Renovascular hypertension, Aortic regurgitation, Dilated cardiomyopathy, O... ORPHA:401923
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Chromosome 1P36 Deletion Syndrome, Proximal
Failure to thrive, Bicuspid aortic valve, Wolff-Parkinson-White syndrome, Atrial septal defect, P... OMIM:619343
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Dilated cardiomyopathy, Left ventricular systolic dysfunction OMIM:145350
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Hepatomegaly, Cardiomyopathy, Myopathy OMIM:610717
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Bradycardia, Atrioventricular block, Joint contracture of the 5th finger OMIM:614407
Aapoaiv Amyloidosis
Cardiac amyloidosis, Left bundle branch block, Sinus bradycardia, Left ventricular outflow tract ... ORPHA:439232
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Pa... OMIM:164310
Vici Syndrome
Failure to thrive, Growth delay, Recurrent fungal infections, Ocular albinism, Left ventricular h... OMIM:242840
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Obesity, Hypertension, Congestive heart failure OMIM:615703
Congenital Disorder Of Glycosylation, Type Im