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Gene: Rbm20 MGI:1920963

Gene Summary

Name:

RNA binding motif protein 20

Synonyms:

1110018J23Rik, 2010003H22Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal heart shape	Rbm20^em1(IMPC)Mbp	HOM	Early adult	0.00
blind uterus	Rbm20^em1(IMPC)Mbp	HOM	Early adult	0.00
absent optic nerve	Rbm20^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Rbm20^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Rbm20^em1(IMPC)Mbp	HOM	Early adult	2.24×10^-05
abnormal retina morphology	Rbm20^em1(IMPC)Mbp	HOM	Early adult	4.56×10^-05
increased circulating triglyceride level	Rbm20^em1(IMPC)Mbp	HOM	Early adult	2.25×10^-05
cataract	Rbm20^em1(IMPC)Mbp	HOM	Early adult	2.55×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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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

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Rbm20 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Rbm20 (2 diseases)
Human diseases predicted to be associated with Rbm20 (1265 diseases)

The table below shows human diseases associated to Rbm20 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1Dd		Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Familial Isolated Dilated Cardiomyopathy		Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154

The table below shows human diseases predicted to be associated to Rbm20 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd...	OMIM:607554
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged...	OMIM:614049
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib...	OMIM:611493
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype...	OMIM:619402
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613122
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I...	OMIM:611880
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy...	OMIM:612201
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Brugada Syndrome 7	Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ...	OMIM:613120
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Glycogen Storage Disease Xv	Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr...	OMIM:613507
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef...	OMIM:613876
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial flutter, Reduced left ventricular ejection fraction, Left atrial enlargement, Atrial fibri...	OMIM:620734
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Atrial Fibrillation, Familial, 8	Atrial fibrillation	OMIM:613055
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula...	OMIM:613874
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy	OMIM:300376
Brugada Syndrome 4	Atrial fibrillation, Syncope, Shortened QT interval	OMIM:611876
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, T-wave inversio...	ORPHA:263297
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric...	OMIM:115195
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo...	OMIM:115197
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,...	OMIM:181350
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:611615
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat...	OMIM:609040
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Familial Atrial Fibrillation	Atrial fibrillation, Syncope, Palpitations, Myocardial infarction	ORPHA:334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo...	OMIM:608099
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ...	OMIM:604286
Nathalie Syndrome	Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation	OMIM:615377
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Barth Syndrome	Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Supraventricular arrhythmia	ORPHA:320360
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ...	ORPHA:206559
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Ebstein Anomaly	Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept...	OMIM:224700
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber type...	OMIM:619903
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber...	ORPHA:34515
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph...	OMIM:160500
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Microphthalmia/Coloboma 12	Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Calf musc...	OMIM:616827
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa...	ORPHA:63273
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype...	ORPHA:75249
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ...	OMIM:613255
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular...	OMIM:261740
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird...	ORPHA:263494
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg...	OMIM:620236
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w...	ORPHA:98912
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp...	OMIM:613426
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pal...	OMIM:300580
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricul...	OMIM:212138
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def...	OMIM:610198
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ...	ORPHA:26793
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Myofibrillar Myopathy 10	Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval	OMIM:619040
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric...	OMIM:310300
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li...	ORPHA:171442
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Trimethylaminuria	Tachycardia, Hypertension, Splenomegaly	OMIM:602079
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Hepat...	OMIM:602390
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio...	ORPHA:398124
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	ORPHA:324588
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Myopathy, Distal, 4	Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di...	OMIM:614065
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Desminopathy	Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave...	ORPHA:98909
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy	OMIM:609500
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m...	OMIM:600334
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath...	OMIM:619424
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card...	ORPHA:59135
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Mitral valve prolapse	OMIM:616166
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failur...	OMIM:310200
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Chorioretinal coloboma	OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Cardiomyopathy Associated With Myopathy And Sudden Death	Asymmetric septal hypertrophy, Myopathy	OMIM:212130
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab...	ORPHA:90064
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio...	OMIM:616878
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage...	ORPHA:3093
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Foot ...	ORPHA:399103
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Generalized amyotrophy, Lower limb hypertonia, Lower limb muscle weakness, Abnormal EKG	ORPHA:1177
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Fish-Eye Disease	Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:98855
Variegate Porphyria	Tachycardia	OMIM:176200
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V...	OMIM:143200
Congenital Myopathy 24	First degree atrioventricular block, Cardiomyopathy	OMIM:617336
Myotonic Dystrophy 1	Atrial fibrillation, First degree atrioventricular block, Atrial flutter	OMIM:160900
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr...	OMIM:300696
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ...	OMIM:615084
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:98853
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ...	ORPHA:392
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia	OMIM:613205
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in l...	OMIM:619566
Niemann-Pick Disease, Type B	Abnormal macular morphology, Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Inc...	OMIM:607616
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Dk1-Cdg	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac...	ORPHA:91131
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy	OMIM:165300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Congenital Myopathy 2A, Typical, Autosomal Dominant	Nemaline bodies, Dilated cardiomyopathy, Type 1 muscle fiber predominance, Limb muscle weakness, ...	OMIM:161800
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m...	OMIM:252011
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir...	ORPHA:179
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure	OMIM:606703
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon...	ORPHA:422
Familial Hyperaldosteronism Type Iii	Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten...	ORPHA:251274
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Hypertension, Splenomegaly	OMIM:121300
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Hepatomegaly, Atrial fibrillation	OMIM:300842
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E...	ORPHA:98911
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con...	OMIM:615959
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Glycogen Storage Disease Vi	Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertriglyceridemia, H...	OMIM:232700
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Arrhy...	ORPHA:352447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia, Gonadal dysgenesis	OMIM:615041
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia	OMIM:144300
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Syncope, Hepatomegaly, Tachycardia	ORPHA:276556
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Fac...	OMIM:602541
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Type 1 fibers relatively smal...	OMIM:255310
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy	OMIM:606842
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hepatomegaly	ORPHA:159
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Ethanolaminosis	Cardiomegaly	OMIM:227150
Leber Hereditary Optic Neuropathy	Arrhythmia, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Bacterial endocarditis, Heart block	ORPHA:1964
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystr...	OMIM:609308
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block	OMIM:300695
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Syncope, Hepatomegaly, Tachycardia	ORPHA:276575
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Anophthalmia, Cryptorchidism, Ventricular septal defect, Hypogonad...	OMIM:206900
Propionic Acidemia	Hepatomegaly, Arrhythmia, Cardiomyopathy	ORPHA:35
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Hepatomegaly, Lef...	ORPHA:308552
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf muscle hypertro...	OMIM:607155
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hypoglycosylation ...	ORPHA:272
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Syncope, Hepatomegaly, Tachycardia	ORPHA:276580
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch...	ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive...	OMIM:614096
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi...	OMIM:232300
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Supraventricular tachycardia, High-output congestive h...	ORPHA:423
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Hyp...	OMIM:603552
Drug-Induced Lupus Erythematosus	Pericardial effusion, Prolonged QTc interval, Pericarditis	ORPHA:231111
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Myopathy, Myofibrillar, 4	Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto...	OMIM:609452
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Azoospermia, He...	OMIM:615703
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis	OMIM:618120
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos...	ORPHA:231736
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Morm Syndrome	Micropenis, Cataract, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ...	ORPHA:97214
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:614480
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor...	OMIM:614292
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension, Atrial septal defect, Ventricular septal defect	OMIM:613870
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ...	OMIM:607598
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom...	OMIM:615352
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	ORPHA:868
Kearns-Sayre Syndrome	Third degree atrioventricular block	ORPHA:480
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Dilated cardiomyopathy, Muscular ventricular septal defect	ORPHA:66634
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular...	OMIM:619167
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia	OMIM:616276
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, ST segment depression, Syn...	ORPHA:358
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,...	ORPHA:79102
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N...	OMIM:245900
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Splenomegaly, Congestive heart failure	ORPHA:90037
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Hepatomegaly, Prolonged QT interval, Bradycardia, Atrial fibrillation, Tachycardia	OMIM:613327
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Palpitations, Splenomegaly, Hepatomegaly, Atrial fib...	ORPHA:525731
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Galactosemia Iv	Hepatomegaly, Cataract, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed...	OMIM:600059
Hypobetalipoproteinemia, Familial, 1	Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Retinal degeneration, Decreased LDL ch...	OMIM:615558
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Hepatomegaly, Arrhythmia, Dilated cardiomyopathy	ORPHA:254913
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ...	OMIM:212112
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy	ORPHA:71212
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly	OMIM:607685
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:3222
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Palpitations, Syncope	ORPHA:464453
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Elevated circulating creatine kinase concentration, Retinal detachment, Microphthalmia,...	OMIM:615181
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Microphthalmia, ...	OMIM:251270
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations	ORPHA:324575
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Lipemia retinalis, H...	OMIM:207750
Tangier Disease	Decreased HDL cholesterol concentration, Peripheral demyelination, Facial diplegia, Splenomegaly,...	OMIM:205400
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Hepatomegaly, Congestive heart failure, Wolff-Parkinson-White syndrome	OMIM:618234
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con...	OMIM:619313
Retinopathy Of Prematurity	Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme...	ORPHA:90050
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:248360
Refsum Disease, Classic	Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:266500
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Arrhythmia, Left ventricular hypertrophy, Wolff-Parkinson-White syndrom...	OMIM:540000
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de...	OMIM:204200
Combined Oxidative Phosphorylation Deficiency 38	Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:618378
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia	OMIM:614702
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Congestive heart failure, Rhabdomyolysis, Myopathy, Arrhythmia	OMIM:609015
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage	ORPHA:280679
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Cerebell...	ORPHA:99901
Galactosemia Ii	Prolonged neonatal jaundice, Cataract, Hypergalactosemia	OMIM:230200
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Abnormal cardiomyocyte...	ORPHA:367
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Rett Syndrome	Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Megabladder, Congenital	Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr...	OMIM:618719
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Hyperthreoni...	OMIM:204000
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia	ORPHA:368
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d...	ORPHA:363741
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia	OMIM:611773
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure	ORPHA:91130
Al Amyloidosis	Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Macroglossia, Postural hypote...	ORPHA:85443
Microphthalmia, Isolated 8	Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ...	OMIM:615113
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure	OMIM:229300
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:611126
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Right...	OMIM:253700
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri...	OMIM:612526
Gitelman Syndrome	Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia	OMIM:263800
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Adenine Phosphoribosyltransferase Deficiency	Atrial fibrillation, Hypertension	ORPHA:976
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Astigmatism, Peripapillary atrophy, Retinal d...	OMIM:616188
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Atrial flutter, Atrial septal defect, Ventricular septal defect	OMIM:601927
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice	ORPHA:75234
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Prolonged QT interval,...	OMIM:170390
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block, Abnormal cardiac septum morphology	ORPHA:589821
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Abnormality o...	OMIM:614307
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic...	ORPHA:2299
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Arrhythmia, Abnormal EKG	ORPHA:480864
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Orthostatic Hypotension 1	Atrial fibrillation, Orthostatic hypotension	OMIM:223360
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomegaly, Arrhythmia,...	OMIM:235200
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca...	ORPHA:31826
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:616108
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta...	OMIM:616468
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Congenital Fibrinogen Deficiency	Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage	ORPHA:335
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo...	OMIM:620300
Pseudohypoparathyroidism Type 1B	Prolonged QT interval	ORPHA:94089
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Myopathy	ORPHA:1369
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatitis, Hemophagocytosis, Increased circulating ferritin concentration, Pancy...	OMIM:300635
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Bradycardia, Hep...	OMIM:619048
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he...	ORPHA:90068
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc...	OMIM:620282
Dextrocardia	Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, T-wave inversion, Dextrocardia	ORPHA:1666
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Pu...	OMIM:614921
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy	ORPHA:401923
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy, Microphthalmia	OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Abnormal left ventricular function, Cardiomyopathy, Calf muscle hypertrophy, ...	OMIM:613155
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Left axis devia...	OMIM:620294
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus, Decreased HDL cholesterol concentration	OMIM:618463
Glycogen Storage Disease Ixa1	Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal heart morphology, Tachycardia	ORPHA:79264
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Hemochromatosis, Type 4	Hepatomegaly, Arrhythmia, Cardiomyopathy	OMIM:606069
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag...	ORPHA:449285
Microphthalmia, Syndromic 5	Cataract, Microcornea, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Retinal dystroph...	OMIM:610125
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Cardiomyopathy	OMIM:613752
Hyperlysinemia, Type I	Hypoornithinemia, Ectopia lentis, Hyperlysinemia, Anemia, Optic nerve hypoplasia	OMIM:238700
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture	ORPHA:98896
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy...	ORPHA:119
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Splenomegaly, Congestive heart failure	ORPHA:90033
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Hec Syndrome	Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy	ORPHA:2119
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Steinert Myotonic Dystrophy	Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri...	ORPHA:273
Myotonic Dystrophy 2	Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block	OMIM:602668
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Ventricular septal defect, Truncus art...	ORPHA:3426
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Kearns-Sayre Syndrome	Arrhythmia, Third degree atrioventricular block, Cardiomyopathy	OMIM:530000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pa...	OMIM:616171
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ...	ORPHA:98863
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia	OMIM:246650
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hypertrophic cardiomyopathy, Hepatomegaly, Dilated cardiomyopathy	OMIM:614299
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Cryptorchidism, Peripheral axonal neuropath...	ORPHA:496790
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Arrhythmia, Lef...	ORPHA:254892
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Small scrotum, Anophthalmia, Cryptorchidism	ORPHA:264200
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Cardiomyopathy	OMIM:615119
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Plin1-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:280356
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture	OMIM:608540
Infantile Sialic Acid Storage Disease	Cardiomegaly, Hepatomegaly, Splenomegaly, Congestive heart failure	OMIM:269920
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cardiomyopathy, Congestive heart failure	OMIM:613313
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Tricuspid regurgitation, Hepatomegaly, Pulmonary insufficiency, Pulmo...	OMIM:619433
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona...	ORPHA:500
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defect	OMIM:249270
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the optic nerve, Unilateral cryptorchi...	ORPHA:137634
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb...	ORPHA:171439
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert...	OMIM:616501
16P12.1P12.3 Triplication Syndrome	Abnormal heart morphology, Tachycardia, Abnormal tricuspid valve morphology, Atrial septal defect	ORPHA:485405
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu...	ORPHA:91495
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Small vessel vasculitis	OMIM:608068
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a...	OMIM:164310
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block	ORPHA:254361
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Cardiomyopathy	ORPHA:329336
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Mitral regurgitation, Dou...	ORPHA:2326
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient isch...	ORPHA:365
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy	OMIM:614284
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins...	OMIM:619705
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy, Cataract, Optic disc pallor, Vaginal hernia	ORPHA:3173
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia	ORPHA:163937
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Congenital Sialidosis Type 2	Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia, Hepatomegaly	ORPHA:93400
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Cryptorchidism, Ventricular septal defect, Microphthalmia, Hepatomegaly, Optic disc pallor	OMIM:613730
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia	OMIM:229700
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal left ventricle morphology, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage	OMIM:300845
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Micropht...	OMIM:212550
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Exudative Vitreoretinopathy 4	Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d...	OMIM:601813
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe...	ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest	OMIM:617713
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle fibers	ORPHA:70595
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block	OMIM:616479
Glycogen Storage Disease Iii	Ventricular hypertrophy, Distal amyotrophy, Cardiomyopathy, Myopathy, Hepatomegaly	OMIM:232400
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract, Retinal dystrophy	OMIM:610156
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega...	OMIM:201475
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic atrophy, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Elevated circ...	ORPHA:370959
Carnitine Palmitoyl Transferase 1A Deficiency	Hypertrophic cardiomyopathy, Hepatomegaly, Arrhythmia, Sudden cardiac death	ORPHA:156
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar...	ORPHA:93672
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Achalasia, Myoc...	ORPHA:3386
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp...	OMIM:603471
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Norrie Disease	Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:310600
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep...	ORPHA:247598
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte...	OMIM:617021
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:120433
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi...	OMIM:300280
Mulibrey Nanism	Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension	OMIM:620029
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism, Chorioretinal coloboma	ORPHA:2489
Werner Syndrome	Cataract, Hypogonadism, Retinal degeneration, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Hurler-Scheie Syndrome	Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Cardiomyopathy	ORPHA:93476
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Ogden Syndrome	Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula...	OMIM:300855
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	ORPHA:42
20P12.3 Microdeletion Syndrome	Atrial septal defect, Wolff-Parkinson-White syndrome	ORPHA:261295
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia	OMIM:620157
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia	ORPHA:65288
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Mercury Poisoning	Tachycardia, Hypotension, Hypertension	ORPHA:330021
Tularemia	Tachycardia	ORPHA:3392
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of peni...	ORPHA:1381
Smith-Magenis Syndrome	Abnormal nerve conduction velocity, Abnormal heart morphology, Retinal detachment, Hypercholester...	OMIM:182290
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Calf muscle hypertrophy, Atr...	OMIM:253800
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Pulmonic stenosis	ORPHA:529962
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171300
Infantile Refsum Disease	Hepatomegaly, Arrhythmia, Cardiomyopathy	ORPHA:772
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon...	OMIM:180105
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo...	OMIM:609286
Joubert Syndrome 40	Optic nerve hypoplasia	OMIM:619582
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat...	OMIM:607459
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ...	ORPHA:1067
Marbach-Rustad Progeroid Syndrome	Ventricular septal hypertrophy, Pulmonary insufficiency, Right bundle branch block	OMIM:619322
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252920
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph...	ORPHA:528
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Cardiomegaly, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorrhag...	OMIM:608836
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension	ORPHA:231625
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Congenital Rubella Syndrome	Cataract, Microphthalmia, Splenomegaly, Aplasia/Hypoplasia of the iris, Ventricular septal defect...	ORPHA:290
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphade...	ORPHA:31150
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ...	ORPHA:466650
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy	ORPHA:67048
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:371428
Lcat Deficiency	Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating apolipoprotein A-...	ORPHA:650
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Increased lef...	OMIM:620067
Relapsing Fever	Tachycardia, Hypotension, Epistaxis	ORPHA:91547
Squalene Synthase Deficiency	Bilateral cryptorchidism, Hypocholesterolemia, Bicuspid aortic valve, Decreased LDL cholesterol c...	OMIM:618156
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ...	OMIM:613581
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hep...	OMIM:615895
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de...	OMIM:616866
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus...	ORPHA:565612
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Retinal dystrophy	ORPHA:3156
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Neuraminidase Deficiency	Cardiomegaly, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Hepatosplenomegaly, High-output congestive heart failure, Splenomegaly, A...	ORPHA:231226
Gyrate Atrophy Of Choroid And Retina	Cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal atrophy, Subcapsular cata...	ORPHA:414
Amyloidosis, Finnish Type	Cardiac amyloidosis, Decreased heart rate variability, Orthostatic hypotension, Cardiomyopathy	OMIM:105120
Smith-Lemli-Opitz Syndrome	Hypertrophic cardiomyopathy, Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepat...	OMIM:270400
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Adult-Onset Cervical Dystonia, Dyt23 Type	Supraventricular arrhythmia	ORPHA:420492
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Ventricular hypertrophy, Arrhythmia, Cardiomyopathy	ORPHA:228305
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Bresek Syndrome	Decreased testicular size, Cryptorchidism, Aganglionic megacolon, Microphthalmia, Iris coloboma, ...	ORPHA:85284
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia	OMIM:619013
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	ORPHA:73224
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Hyperuricemia, Polycystic ovaries, ...	ORPHA:79083
Optic Atrophy 11	Optic atrophy, Cherry red spot of the macula, Facial diplegia, Splenomegaly, Decreased sensory ne...	OMIM:617302
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy...	OMIM:617877
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia	ORPHA:250972
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Cardiomyopathy	OMIM:619003
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Decreased ...	OMIM:604367
Melas	Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card...	ORPHA:550
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatomegaly, Jaundi...	OMIM:214900
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension	OMIM:614653
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen...	ORPHA:158061
Griscelli Syndrome Type 1	Iris hypopigmentation, Hyperlipidemia, Retinopathy	ORPHA:79476
Glycogen Storage Disease Iv	Hepatosplenomegaly, Portal hypertension, Cardiomyopathy, Bradycardia	OMIM:232500
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, H...	ORPHA:2348
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Bundle branch block, Splenomegaly, Ventricular septal defect, Hepatomegaly, Atria...	ORPHA:373
Cardiofaciocutaneous Syndrome 4	Cataract, Abnormal aortic valve morphology, Ventricular septal hypertrophy, Pulmonic stenosis, Op...	OMIM:615280
Beta-Thalassemia Major	Dilated cardiomyopathy, Hepatosplenomegaly, High-output congestive heart failure, Splenomegaly, A...	ORPHA:231214
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Arrhyt...	ORPHA:465508
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat...	ORPHA:263479
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Tetralogy of Fallot, Zonular cataract, Decreased circulating plasmalogen concentration,...	OMIM:222765
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tricuspid regurgitation, Right bundle branch block, Mitral regurgitation	OMIM:619576
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H...	ORPHA:83461
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia	ORPHA:263455
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia	OMIM:182230
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy	OMIM:616549
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ...	OMIM:613027
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Holt-Oram Syndrome	Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve...	OMIM:142900
Friedreich Ataxia 2	Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro...	OMIM:601992
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur	ORPHA:99931
Nephronophthisis 16	Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Enlarged kidney, Pulm...	OMIM:615382
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Cardiac arrest, Hypotension, Dilated cardiomyopathy	ORPHA:20
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Sple...	ORPHA:280365
Lissencephaly Syndrome, Norman-Roberts Type	Abnormal retinal morphology, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale	ORPHA:89844
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Mitral valve prolapse, Tric...	ORPHA:558
Mitochondrial Dna-Associated Leigh Syndrome	Hypertrophic cardiomyopathy, Hepatomegaly, Dilated cardiomyopathy, Cardiac conduction abnormality	ORPHA:255210
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Polycystic ovaries, Hepatic steatosis, Hypertriglyceridemia	ORPHA:79085
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Astigmatism, Cryptorchidism, Ventricular septal defect, Elevated circulating creatine...	OMIM:301056
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Left atrial enlargement, Pulm...	OMIM:614008
Obesity Due To Congenital Leptin Deficiency	Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Orthostatic hypot...	ORPHA:66628
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Cap Myopathy	Sinus tachycardia, Reduced systolic function, Mitral valve prolapse	ORPHA:171881
Temple Syndrome	Precocious puberty, Decreased testicular size, Cryptorchidism, Hypercholesterolemia, Hypertriglyc...	OMIM:616222
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG	ORPHA:230
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retinal detachment,...	OMIM:614643
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve	ORPHA:1772
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:603553
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Congestive heart failure	OMIM:619259
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism, Cataract	OMIM:254000
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio...	OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Optic atrophy, Peters anomaly, Megalocornea, Cryptorchidism, Elevated circulating creat...	OMIM:236670
Obesity Due To Leptin Receptor Gene Deficiency	Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Orthostatic hypot...	ORPHA:179494
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cardiomyopathy, Cholestasis, Hepatic steatosis, Splenomegaly, ...	ORPHA:264580
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatomegaly	ORPHA:435651
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension	ORPHA:139411
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect	ORPHA:261250
Leopard Syndrome 1	Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a...	OMIM:151100
Stromme Syndrome	Accessory spleen, Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Microphthal...	OMIM:243605
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block	ORPHA:228308
Familial Chylomicronemia Syndrome	Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea...	ORPHA:444490
Developmental And Epileptic Encephalopathy 111	Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Premature ventricular contr...	OMIM:620504
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Astigmatism, Patent foramen ovale, Ventricular septal defect, Atrial...	OMIM:609053
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy	ORPHA:158687
Craniotelencephalic Dysplasia	Optic atrophy, Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Serotonin Syndrome	Tachycardia, Hypotension, Hypertension	ORPHA:43116
Polyarteritis Nodosa	Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis	ORPHA:767
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Dilated cardiomyopathy	OMIM:251110
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Pseudohypoparathyroidism Type 1C	Prolonged QT interval	ORPHA:79444
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r...	OMIM:300578
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Hepatic steatosis, Elevated circulating creatine kinase concent...	ORPHA:435660
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Abnormal heart mo...	ORPHA:505248
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia	OMIM:614306
Phace Association	Optic atrophy, Ventricular septal defect, Horner syndrome, Developmental cataract, Microphthalmia...	OMIM:606519
Stickler Syndrome Type 1	Cataract, Abnormal vitreous humor morphology, Retinal detachment, Mitral valve prolapse	ORPHA:90653
Smith-Magenis Syndrome	Precocious puberty, Microcornea, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia	ORPHA:819
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia	OMIM:618890
Refsum Disease	Splenomegaly, Cardiomyopathy, Heart block	ORPHA:773
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina...	ORPHA:279914
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou...	OMIM:610644
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec...	OMIM:270100
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Hyperlipidemia, Hepat...	ORPHA:247585
Autosomal Recessive Stickler Syndrome	Cataract, Retinal detachment, Vitreoretinopathy, Astigmatism	ORPHA:250984
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio...	OMIM:269400
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:363400
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Scimitar Syndrome	Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea...	ORPHA:185
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopa...	ORPHA:79477
Double Outlet Left Ventricle	Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ...	ORPHA:3427
Autosomal Dominant Optic Atrophy Plus Syndrome	Myopathy, Limb-girdle muscle weakness, Cardiomyopathy	ORPHA:1215
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent...	OMIM:619573
Renal Nutcracker Syndrome	Tachycardia, Syncope, Orthostatic hypotension	ORPHA:71273
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia	ORPHA:348
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Rhabdomyoly...	OMIM:610505
Gracile Bone Dysplasia	Aniridia, Hypocalcemia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Abnormal heart morphology, Mitral regurgitation, Left ventricular hypertrop...	ORPHA:284984
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Hypergalactosemia, Cataract	ORPHA:570422
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Pigmentary retinopathy, Elevated circulating long chain fatty acid concentration, Clito...	OMIM:214110
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia...	OMIM:618775
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Situs inversus totalis, Microphthalmia	OMIM:614833
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Intracranial hemorrhage	ORPHA:86309
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ...	ORPHA:3260
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia	OMIM:615238
5Q14.3 Microdeletion Syndrome	Optic nerve hypoplasia	ORPHA:228384
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Rh Deficiency Syndrome	Tachycardia, Hepatosplenomegaly	ORPHA:71275
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Hepatic steatosis, Cryptorchidism, Hypertriglyceridemia, Hepatomegaly	OMIM:615381
Dysbetalipoproteinemia	Acute pancreatitis, Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholester...	ORPHA:412
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Seckel Syndrome 10	Ventricular hypertrophy, Hepatic steatosis, Retinal detachment, Hypertriglyceridemia, Elevated he...	OMIM:617253
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Hypoplasia of the uterus, Abnormal vagina morphology, Gonadal dysgenesis, Abno...	ORPHA:168563
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin conc...	ORPHA:540
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypertension	ORPHA:79443
Alagille Syndrome 1	Cataract, Microcornea, Band keratopathy, Pigmentary retinopathy, Tetralogy of Fallot, Cholestasis...	OMIM:118450
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Porphyria Variegata	Tachycardia, Hypertension	ORPHA:79473
Sepsis In Premature Infants	Hypotension, Splenomegaly, Bradycardia, Hepatomegaly, Tachycardia	ORPHA:90051
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Atrial septal defect, Supraventricular tachycardia with an accessory con...	ORPHA:404443
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Decreased nerve conduction velocity, Subcapsular cataract, Rod-cone dyst...	OMIM:612674
Neutral Lipid Storage Disease With Ichthyosis	Micronodular cirrhosis, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepat...	ORPHA:98907
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Decre...	ORPHA:167
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Reni Syndrome	Hypoalbuminemia, Hypogonadism, Lymphopenia, Cryptorchidism, Hypertriglyceridemia, Micropenis	OMIM:617575
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Splenomegaly, Elevated circulating creatine kinase concentration, Polycystic ov...	ORPHA:79240
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t...	ORPHA:364055
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Astigmatism, Hypospadias, Hyperopic astigmatism, Optic nerve hypoplasia	ORPHA:363686
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased...	OMIM:618620
Trichothiodystrophy 5, Nonphotosensitive	Micropenis, Decreased testicular size, Retinal dystrophy, Optic nerve hypoplasia	OMIM:300953
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Optic nerve hypoplasia	OMIM:620502
Illum Syndrome	Bradycardia	OMIM:208155
Bardet-Biedl Syndrome 9	Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p...	OMIM:615986
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension	OMIM:613320
Crimean-Congo Hemorrhagic Fever	Retinal hemorrhage, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ...	ORPHA:99827
Walker-Warburg Syndrome	Cataract, Microcornea, Optic atrophy, Abnormal optic nerve morphology, Abnormal circulating creat...	ORPHA:899
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia	OMIM:257910
Bacterial Toxic-Shock Syndrome	Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak	ORPHA:36234
Alstrom Syndrome	Pigmentary retinopathy, Dilated cardiomyopathy, Decreased HDL cholesterol concentration, Attenuat...	OMIM:203800
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi...	ORPHA:746
Rabin-Pappas Syndrome	Cataract, Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia	OMIM:620155
Cholera	Tachycardia, Hypotension, Hypovolemic shock	ORPHA:173
Noonan Syndrome	Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Arrhythmia, Aplas...	ORPHA:648
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Cryptorchidism, Microphthalmia, Scle...	ORPHA:139471
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Galactokinase Deficiency	Cataract, Nuclear cataract, Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactit...	ORPHA:79237
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Multilobulated spleen, Bilateral microphthalmos, Tetralogy of Fallot, An...	OMIM:601186
Peroxisome Biogenesis Disorder 9B	Cataract, Rod-cone dystrophy, Cardiomyopathy, Elevated circulating phytanic acid concentration	OMIM:614879
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Splenomegaly, Syncope, Hepatomegaly, Tachycardia	ORPHA:98849
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Sarcoidosis	Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ...	ORPHA:797
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Cataract, Pigmentary retinopathy, Peripheral demyelination, Attenuation of retinal...	OMIM:609033
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Hypertrophic cardiomyopathy, Hyperlipidemia, Increased hepatic...	ORPHA:369
Sweet Syndrome	Myositis, Dilated cardiomyopathy, Small vessel vasculitis	ORPHA:3243
Acquired Generalized Lipodystrophy	Cardiomyopathy, Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries, ...	ORPHA:79086
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Left ventricular hype...	OMIM:242840
Hypogonadism-Cataract Syndrome	Hypogonadism, Cataract, Male hypogonadism	OMIM:240950
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Cerebral Visual Impairment	Optic atrophy, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc ratio, Optic ...	ORPHA:447788
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Phace Syndrome	Retinal vascular malformation, Cataract, Abnormal heart morphology, Tetralogy of Fallot, Heteroch...	ORPHA:42775
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy	OMIM:616541
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia, Hepat...	OMIM:617591
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Atrial septal d...	OMIM:617403
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Mild...	OMIM:604484
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect	OMIM:616897
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Graft Versus Host Disease	Tachycardia, Hepatosplenomegaly	ORPHA:39812
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Facial hypotonia	ORPHA:2131
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect	OMIM:615879
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Nabais Sa-De Vries Syndrome, Type 1	Prolonged neonatal jaundice, Optic nerve hypoplasia	OMIM:618828
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Flexion contracture, Dilated cardiomyopathy, Skeletal muscle atrophy	ORPHA:89842
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Dilated cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Raynau...	OMIM:615688
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Nance-Horan Syndrome	Cataract, Microcornea, Retinal detachment, Microphthalmia	ORPHA:627
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Pulmonary arterial hypertension, Bradycardia, Hepatomegaly, Tachycardia, Cardiac arrest	OMIM:277400
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia	OMIM:618736
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Cataract, Microcornea, Cryptorchidism, Microphthalmia, Vaginal atresia, Septo-opti...	ORPHA:3301
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio...	ORPHA:2556
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,...	OMIM:617506
Verheij Syndrome	Truncus arteriosus, Optic nerve hypoplasia, Ventricular septal defect	OMIM:615583
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Cardiomyopathy, Lower limb muscle weakness, Dilatation o...	ORPHA:363623
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Myopathy, Cardiomyopathy, Weakness of facial musculature	OMIM:201470
Lipodystrophy, Familial Partial, Type 2	Enlarged peripheral nerve, Decreased HDL cholesterol concentration, Labial pseudohypertrophy, Hep...	OMIM:151660
Wolfram Syndrome 1	Cataract, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Sideroblastic anemia, Megaloblas...	OMIM:222300
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication	OMIM:259900
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hereditary Leiomyomatosis And Renal Cell Cancer	Vaginal neoplasm, Cataract, Uterine leiomyosarcoma, Uterine leiomyoma	ORPHA:523
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Galactosemia I	Increased level of galactitol in red blood cells, Cataract, Reduced erythrocyte galactose-1-phosp...	OMIM:230400
H Syndrome	Histiocytosis, Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hyp...	ORPHA:168569
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper...	ORPHA:99228
Monosomy X	Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper...	ORPHA:99226
Turner Syndrome	Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect, Prolonged QT interval, Hyper...	ORPHA:881
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper...	ORPHA:94093
Amyloidosis, Hereditary Systemic 1	Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy	OMIM:105210
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h...	ORPHA:444072
D-Glyceric Aciduria	Micropenis, Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Optic nerv...	OMIM:220120
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal circulating lipid concentration, Cherry red spot of the macula, Abnormal...	ORPHA:77293
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Lissencephaly Due To Tuba1A Mutation	Aganglionic megacolon, Optic nerve hypoplasia	ORPHA:171680
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C...	ORPHA:470
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly	OMIM:603903
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Pigmentary retinopathy, Cataract...	ORPHA:79095
Proteus-Like Syndrome	Cataract, Thymus hyperplasia, Abnormal pupil morphology, Splenomegaly, Polycystic ovaries, Hetero...	ORPHA:2969
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Subar...	OMIM:613795
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,...	OMIM:277460
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia	OMIM:618381
Multiple Sulfatase Deficiency	Cataract, Optic atrophy, Splenomegaly, Abnormality of peripheral nerve conduction, Abnormality of...	ORPHA:585
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ...	OMIM:268315
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Chromosome 6Q24-Q25 Deletion Syndrome	Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ...	OMIM:612863
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Cardiomyopathy, Congestive heart failure, Generalized limb muscle atrophy, Hand ...	ORPHA:98908
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Cryptorchidism, Optic nerve hypoplasia	ORPHA:3157
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Pulmo...	ORPHA:79282
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Pigmentary retinopathy, Clitoral hypertrophy, Peters anomaly, Hypospadias, Histiocytoid...	OMIM:309801
Mirage Syndrome	Hypospadias, Microphallus, Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Hy...	OMIM:617053
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creat...	OMIM:610717
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he...	ORPHA:340
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Hypertrophic cardiomyopathy, Labial hypertrophy, Hepatic steatosis, Splenom...	OMIM:269700
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension	OMIM:268800
Warburg Micro Syndrome 2	Cataract, Microcornea, Optic atrophy, Small scrotum, Cryptorchidism, Hypoplastic labia majora, De...	OMIM:614225
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia	ORPHA:2714
46,Xy Sex Reversal 11	Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female...	OMIM:273250
Acute Intermittent Porphyria	Tachycardia, Hypertension	ORPHA:79276
Mucopolysaccharidosis Type 3	Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal mitral...	ORPHA:581
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy	ORPHA:369847
Progeria-Short Stature-Pigmented Nevi Syndrome	Supraventricular arrhythmia	ORPHA:2959
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary artery stenosis, Hypertri...	OMIM:615812
Cataract 47	Cataract, Microcornea	OMIM:612018
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ...	OMIM:617063
Chromosome 2P16.1-P15 Deletion Syndrome	Hypogonadism, Decreased testicular size, Cryptorchidism, Micropenis, Optic nerve hypoplasia	OMIM:612513
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Hepatic steatosis, Splenomegaly, Polycy...	OMIM:608594
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Optic nerve hypoplasia	ORPHA:572013
Congenital Fibrosis Of Extraocular Muscles	Cataract, Abnormal pupil shape, Hypogonadotropic hypogonadism, Anisocoria, Optic nerve hypoplasia	ORPHA:45358
White-Sutton Syndrome	Astigmatism, Patent foramen ovale, Atrial septal defect, Rod-cone dystrophy, Iris coloboma, Optic...	OMIM:616364
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Decreased testicular size, Leukocytosis, Hepatic steatosis, Hypoplasia of the ovar...	OMIM:619321
Brachytelephalangic Chondrodysplasia Punctata	Cataract, Optic disc hypoplasia, Ventricular septal defect, Atrial septal defect, Optic nerve hyp...	ORPHA:79345
Bardet-Biedl Syndrome	Hepatic fibrosis, Cataract, Aplasia/Hypoplasia of the vagina, Cardiomyopathy, Hydrometrocolpos, A...	ORPHA:110
Hamamy Syndrome	Atrial septal defect, Prolonged QRS complex, Complete atrioventricular canal defect, Mitral regur...	OMIM:611174
Knobloch Syndrome	Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho...	ORPHA:1571
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Cataract, Abnormality of the ovary, Decreased testicular size, Hyperautofluores...	OMIM:209900
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subarachnoid hemo...	ORPHA:91387
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Retinal coloboma, Tetralogy of Fallot, Atrioventricular canal defect, Exocrine pancr...	ORPHA:508498
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Cryptorchidism, Hyponatremia, Hypertriglyceridemia...	OMIM:618183
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Primary Hyperoxaluria	Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block	ORPHA:416
Spastic Paraplegia 54, Autosomal Recessive	Optic nerve hypoplasia	OMIM:615033
Leptospirosis	Hypotension, Pulmonary hemorrhage, Hepatomegaly, Arrhythmia, First degree atrioventricular block,...	ORPHA:509
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio...	ORPHA:258
Prader-Willi Syndrome	Precocious puberty, Small scrotum, Decreased HDL cholesterol concentration, External genital hypo...	OMIM:176270
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Abnormal intrahepatic bile duct morphology, Mitra...	ORPHA:363618
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hyperkalemia, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Microvesicular he...	ORPHA:275761
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Fanconi-Bickel Syndrome	Abnormal hepatic glycogen storage, Increased hepatic glycogen content, Hypophosphatemia, Hypertri...	ORPHA:2088
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Fg Syndrome Type 1	Cryptorchidism, Mitral valve prolapse, Atrial septal defect, Hypospadias, Optic nerve hypoplasia	ORPHA:93932
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Mitral valve prolapse, ...	OMIM:617402
Papillorenal Syndrome	Cataract, Macular degeneration, Optic disc coloboma, Retinal coloboma, Elevated circulating creat...	OMIM:120330
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:2457
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,...	ORPHA:90797
Sympathetic Ophthalmia	Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor...	ORPHA:79098
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating...	OMIM:615980
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Norrie Disease	Cataract, Optic atrophy, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil ...	ORPHA:649
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,...	ORPHA:99826
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lip telangiectasia, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa	ORPHA:79280
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperurice...	ORPHA:79259
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Restrictive cardiomyopathy, Abnormal heart morphology, Astigmatism, Atrial se...	ORPHA:369837
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Hypogonadism, Decreased testicular size, Facial palsy, Optic nerve hypoplasia	ORPHA:261349
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Proboscis Lateralis	Cataract, Microcornea, Chorioretinal coloboma, Optic disc coloboma, External genital hypoplasia, ...	ORPHA:141099
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Supraventricular arrhy...	ORPHA:91347
Congenital Tufting Enteropathy	Cholestatic liver disease, Cataract, Optic disc coloboma, Punctate keratitis, Steatorrhea, Cornea...	ORPHA:92050
Aniridia-Absent Patella Syndrome	Cataract, Aniridia, Cryptorchidism	ORPHA:1069
Meckel Syndrome	Accessory spleen, Cataract, Microcornea, Optic atrophy, Situs inversus totalis, Aplasia/Hypoplasi...	ORPHA:564
Xeroderma Pigmentosum, Complementation Group B	Cataract, Pigmentary retinopathy, Optic atrophy, Hypogonadism, Decreased nerve conduction velocit...	OMIM:610651
Xp21 Deletion Syndrome	Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Hypertriglycer...	ORPHA:261476
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Optic nerve hypoplasia, Retinal coloboma	OMIM:300749
Plague	Hypotension, Splenomegaly, Arrhythmia, Hematemesis, Hepatomegaly, Tachycardia, Endocarditis	ORPHA:707
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Classical-Like Ehlers-Danlos Syndrome Type 2	Astigmatism, Mitral valve prolapse, Cryptorchidism, Keratoconjunctivitis sicca, Hypertriglyceride...	ORPHA:536532
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Uterus didelphys, Abnormal heart morphology, Septate vagina, Hypocalcemia, Aplasia of the uterus,...	ORPHA:2237
Atelis Syndrome 2	Microphthalmia, Vitreous hemorrhage, Thrombocytopenia, Developmental cataract, Anemia, Supravalva...	OMIM:620185
Yellow Fever	Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemes...	ORPHA:99829
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Posterior subcapsular cataract, Optic disc coloboma, Megalocornea, Abnorma...	ORPHA:536471
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absent scrotum, Hypoplastic labia minora, Cryptorchidism, Absence of labia majora, Keratoconjunct...	ORPHA:495875
Microtriplication 11Q24.1	Keratoconus, Hyperlipidemia	ORPHA:289522
Von Hippel-Lindau Disease	Cardiomyopathy, Palpitations, Arrhythmia, Myocarditis, Abnormal left ventricular function, Hypert...	ORPHA:892
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia	OMIM:617864
Charcot-Marie-Tooth Disease Type 1F	Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity...	ORPHA:101085
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Neurofibroma, Bilateral vestibular schwannoma, Peripher...	OMIM:101000
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Abnormal optic nerve morphology, Peripheral schwannoma, Bilateral...	ORPHA:637
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus	OMIM:146255
19P13.13 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia	ORPHA:357001
Legius Syndrome	Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse	ORPHA:137605
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria...	ORPHA:90793
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia	ORPHA:97297
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
1P36 Deletion Syndrome	Dilated cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Tetralogy of Fa...	ORPHA:1606
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia, Anemia, Optic nerve hyp...	OMIM:609069
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation...	OMIM:252500
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunct...	OMIM:269200
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal autonomic nervous system physiology, Optic nerve hypoplasia	ORPHA:300570
Lipodystrophy, Familial Partial, Type 7	Cataract, Pigmentary retinopathy, Recurrent pancreatitis, Hypercholesterolemia, Orthostatic hypot...	OMIM:606721
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Hyperlipi...	ORPHA:567983
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Microcytic anemia, Punctate opacification of the cornea,...	OMIM:256040
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Hypogonadism, Hepatic steatosis, Mitral valve ...	ORPHA:79474
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Sex reversal, Clitoral hypertrophy, Abnormal circulating cholesterol concen...	ORPHA:168558
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent...	OMIM:301043
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar...	ORPHA:95430
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Sex reversal, Clitoral hypertrophy, Abnormal circulating cholesterol concen...	ORPHA:289548
Microphthalmia, Syndromic 2	Aortic valve stenosis, Hypospadias, Microcornea, Septate vagina, Microphthalmia, Anophthalmia, Mi...	OMIM:300166
19P13.12 Microdeletion Syndrome	Precocious puberty, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, Ventricular septal defect,...	ORPHA:254346
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Patent foramen ovale, Ventr...	OMIM:607872
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Flexion contracture, Dilated cardiomyopathy, Foot joint contracture	ORPHA:79408
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita...	ORPHA:391665
Degcags Syndrome	Hepatosplenomegaly, Patent foramen ovale, Ventricular septal defect, Dysplastic pulmonary valve, ...	OMIM:619488
Multiple Endocrine Neoplasia Type 1	Hypertension, Hematemesis, Shortened QT interval, Melena	ORPHA:652
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia	ORPHA:457284
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:130650
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure	OMIM:181270
Cerebrooculonasal Syndrome	Iris coloboma, Anophthalmia, Hypoplastic male external genitalia, Optic nerve hypoplasia	OMIM:605627
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Microphallus, Attenuation of retinal blood vessels, Cryptorchidism, Opt...	ORPHA:468631
Familial Multiple Lipomatosis	Hyperlipidemia, Abnormal tricuspid valve morphology, Chorioretinitis	ORPHA:199276
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ...	ORPHA:221139
Choreoacanthocytosis	Peroneal muscle atrophy, Distal amyotrophy, Dilated cardiomyopathy, Muscle fiber atrophy, Myopathy	ORPHA:2388
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Septo-optic dysplasia, Cryptorchidism	ORPHA:95496
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Asparagine Synthetase Deficiency	Hypoasparaginemia, Optic nerve hypoplasia	OMIM:615574
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Pancreatitis, Lipemia retinalis, Pancre...	OMIM:232220
Hydranencephaly	Dilatation of the ventricular cavity, Chorioretinal atrophy, Optic nerve hypoplasia	ORPHA:2177
Rhombencephalosynapsis	Aganglionic megacolon, Septo-optic dysplasia, Abnormality of the uterus	ORPHA:59315
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagi...	ORPHA:3109
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal optic nerve morphology, Abnormal heart morphology, Cryptorchidism, Ventricular septal de...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal optic nerve morphology, Abnormal heart morphology, Cryptorchidism, Ventricular septal de...	ORPHA:352665
Wiedemann-Rautenstrauch Syndrome	Cataract, Pigmentary retinopathy, Optic atrophy, Hypospadias, Optic disc hypoplasia, Wide penis, ...	ORPHA:3455
Diaphragmatic Hernia 4, With Cardiovascular Defects	Cryptorchidism, Ventricular septal defect, Aortopulmonary window, Hepatomegaly, Optic nerve hypop...	OMIM:620025
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dyspla...	OMIM:602535
Craniosynostosis 4	Optic nerve hypoplasia	OMIM:600775
Abetalipoproteinemia	Cardiomegaly, Hepatomegaly, Congestive heart failure	ORPHA:14
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo...	OMIM:202010
Glycerol Kinase Deficiency	Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism, Hypertriglyceridemia	OMIM:307030
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemi...	ORPHA:1830
Alg9-Cdg	Hypoplasia of the musculature, Tricuspid regurgitation, Abnormal heart morphology, Ventricular se...	ORPHA:79328
Alström Syndrome	Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Cone/cone-rod dystrophy, Polycystic o...	ORPHA:64
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Cerebral hemorr...	OMIM:620371
Fucosidosis	Cardiomegaly, Hepatomegaly	ORPHA:349
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine...	ORPHA:157
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia, Pancreatitis, Lipemia retinalis, Hepatomegaly, Hepato...	OMIM:232200
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly	ORPHA:79330
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Pulmonary ...	OMIM:614437
Mandibuloacral Dysplasia Progeroid Syndrome	Patent foramen ovale, Left ventricular hypertrophy, Mitral valve calcification, Hypertriglyceride...	OMIM:619127
Aromatase Deficiency	Ambiguous genitalia, female, Female pseudohermaphroditism, Hyperlipidemia, Hepatic steatosis, Cry...	ORPHA:91
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo...	OMIM:278850
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon	ORPHA:51
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Single ventricle, Microphthalmia	OMIM:619879
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Retinal coloboma, Abnormal heart morphology, Atrioventricular canal def...	ORPHA:508488
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect	OMIM:617022
Acromelic Frontonasal Dysostosis	Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Gaucher Disease, Perinatal Lethal	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:608013
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Wiedemann-Rautenstrauch Syndrome	Cataract, Long penis, Secundum atrial septal defect, Cryptorchidism, Hypoplasia of the thymus, Hy...	OMIM:264090
Baller-Gerold Syndrome	Optic atrophy, Rectovaginal fistula, Abnormal heart morphology, Astigmatism, Perineal fistula, An...	OMIM:218600
Johanson-Blizzard Syndrome	Dilated cardiomyopathy, Portal hypertension, Situs inversus totalis, Splenomegaly, Ventricular se...	OMIM:243800
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Aplasia of the uterus, Thrombocytopenia, Abnormal cardiac septum morphology	ORPHA:3320
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Patent foramen ovale, Hypoplasia of the fovea, Blue irides...	OMIM:619539
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis	OMIM:620376
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of...	ORPHA:284339
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Hypogonadotropic hypogonadism, Optic nerve hypoplasia	ORPHA:226307
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Thrombocytopenia-Absent Radius Syndrome	Cataract, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, V...	OMIM:274000
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ...	ORPHA:3472
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Neuroendocrine neoplasm, Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia...	ORPHA:189427
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig...	ORPHA:90794
Williams Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Cerebral ischemia, Su...	ORPHA:904
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral...	OMIM:182250
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Chordee, Secundum atrial septal defect, Phimosis, Optic nerve hypoplasia	OMIM:620455
Fucosidosis	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:230000
Holoprosencephaly 9	Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Optic nerve hypoplasia	OMIM:610829
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe...	OMIM:619991
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Left ventricular systolic dysfunction, Myocar...	ORPHA:51608
Beckwith-Wiedemann Syndrome	Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki...	ORPHA:116
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Optic nerve hypoplasia, Hypocalcemia, Ventricular septal defect	OMIM:620330
Combined Pituitary Hormone Deficiencies, Genetic Forms	Decreased testicular size, Hypogonadotropic hypogonadism, Septo-optic dysplasia, Optic nerve hypo...	ORPHA:95494
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Abnormal heart morphology, Absent gallbladder, Atrial septal defect, Optic nerve h...	ORPHA:500150
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract, Hyperlipidemia	ORPHA:90153
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Splenomegal...	ORPHA:2729
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, Microphthalmia, Anemia	OMIM:614083
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Glycogen Storage Disease Ic	Cyclic neutropenia, Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatoblast...	OMIM:232240
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular...	OMIM:236680
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Precocious puberty, Ectopia pupillae, Rieger anomaly, Cryptorchidi...	OMIM:194190
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect	ORPHA:96191
Holoprosencephaly 2	Chorioretinal coloboma, Single ventricle, Remnants of the hyaloid vascular system, Microphthalmia...	OMIM:157170
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hydrocele testis, Hyperlipidemia	ORPHA:567546
Neu-Laxova Syndrome 1	Cataract, Pterygium, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transpositi...	OMIM:256520
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis	OMIM:248370
Viss Syndrome	Coronary sinus enlargement, Right ventricular hypertrophy, Mitral valve prolapse, Ventricular sep...	OMIM:619472
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Calcinosis	ORPHA:90154
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Cystocele, Cryptorchidism, B...	ORPHA:322
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Uterine rupture, Cystocele, Cryptorchidism, Mitral valve prolapse, Uterine prolapse,...	OMIM:130050
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Townes-Brocks Syndrome 1	Chorioretinal coloboma, Bifid scrotum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal de...	OMIM:107480
Limb-Mammary Syndrome	Chronic irritative conjunctivitis, Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Chilton-Okur-Chung Neurodevelopmental Syndrome	Cryptorchidism, Patent foramen ovale, Chordee, Micropenis, Septo-optic dysplasia, Hypospadias	OMIM:619841
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Tetralogy of Fallot, Cryptorchidism, Astigmatism, Ventricular septal defect...	OMIM:135900
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Ganglioneuroma, Abnormal autonomic nervous system physiology	ORPHA:293987
Vascular Ehlers-Danlos Syndrome	Keratoconus, Uterine rupture, Abnormal heart valve morphology, Abnormal pupil morphology, Cystoce...	ORPHA:286
Pallister-Killian Syndrome	Aortic valve stenosis, Cataract, Small scrotum, Hypertrophic cardiomyopathy, Cryptorchidism, Vent...	OMIM:601803
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias	OMIM:276820
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030

Histopathology

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

There is no histopathology data for Rbm20

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rbm20.

No publications found that use IMPC mice or data for Rbm20.

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MGI Allele	Allele Type	Produced
Rbm20^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Rbm20^{tm82933(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rbm20 MGI:1920963

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Rbm20 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data