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

Download data as: TSV XLS

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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		Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Familial Isolated Dilated Cardiomyopathy		Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	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, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr...	OMIM:611493
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 28	Systolic anterior motion of the mitral valve, Left atrial enlargement, Reduced left ventricular e...	OMIM:619402
Cardiomyopathy, Dilated, 1M	Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac...	OMIM:607482
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Cardiomyopathy, Dilated, 1W	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:613122
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Cardiomyopathy, Dilated, 2A	Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula...	OMIM:611880
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Atrial Fibrillation, Familial, 6	Left atrial enlargement, Reduced left ventricular ejection fraction, Atrial fibrillation, Elevate...	OMIM:612201
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Cardiomyopathy, Dilated, 1Jj	Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:615235
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Cardiomyopathy, Dilated, 1Dd	Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Cardiomyopathy, Dilated, 1L	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:606685
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar...	OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613876
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613286
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Cardiomyopathy, Dilated, 1Ee	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613252
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Left atrial enlargement, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibri...	OMIM:620734
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
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	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 18	Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial...	OMIM:613874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Cardiomyopathy, Dilated, 1J	Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card...	OMIM:605362
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Muscular Dystrophy, Becker Type	Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Progressive Familial Heart Block, Type Ia	Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas...	OMIM:113900
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Cardiac Conduction Defect	Syncope, Arrhythmia	OMIM:115080
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol...	OMIM:614676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca...	ORPHA:263297
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ...	OMIM:613642
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P...	OMIM:616201
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia	ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 2	Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri...	OMIM:115195
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef...	OMIM:115197
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi...	OMIM:181350
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus...	OMIM:611615
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic steno...	OMIM:108900
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog...	OMIM:617912
Familial Atrial Fibrillation	Atrial fibrillation, Palpitations, Syncope, Myocardial infarction	ORPHA:334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Sca...	OMIM:608099
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Congenital Myopathy 5 With Cardiomyopathy	Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro...	OMIM:611705
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema...	OMIM:620247
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,...	OMIM:604286
Nathalie Syndrome	Abnormal EKG, Skeletal muscle atrophy	OMIM:255990
Atrial Fibrillation, Familial, 13	Paroxysmal atrial fibrillation, Left atrial enlargement, Aortic valve stenosis	OMIM:615377
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr...	ORPHA:542306
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic...	OMIM:601419
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr...	OMIM:614980
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Glycogen Storage Disease Due To Lamp-2 Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:34587
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar...	OMIM:300257
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E...	OMIM:611878
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Cardiomyopathy	ORPHA:320360
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Familial Isolated Dilated Cardiomyopathy	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	ORPHA:154
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul...	ORPHA:206559
Cardiomyopathy, Dilated, 2J	Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced...	OMIM:620635
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type grouping, Interosseus muscle...	OMIM:619903
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr...	OMIM:255160
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ...	ORPHA:206546
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:616198
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a...	ORPHA:34515
Myopathy, Distal, 1	Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an...	OMIM:160500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Microphthalmia/Coloboma 12	Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch...	OMIM:120200
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert...	OMIM:601005
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Calf muscle hypertrophy, Reduced systolic function, Skeletal muscle atrophy, ...	OMIM:616827
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Dilated car...	OMIM:300718
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Hip flexor weakness, Distal lower limb muscle weakness, Cardiomyopathy, Intrinsic hand muscle atr...	ORPHA:63273
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Atrial fibrillation, Supraventricular arrhythmia, Tricuspi...	ORPHA:75249
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ...	OMIM:612422
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Loeffler Endocarditis	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa...	ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 15	Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Endocardial fibrosis, ...	OMIM:613255
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir...	OMIM:612937
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Dpm3-Cdg	Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Dilated cardiomyopathy, Pelvic gird...	ORPHA:263494
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left...	OMIM:620236
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h...	ORPHA:98912
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl...	ORPHA:57777
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Dil...	OMIM:300580
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper...	OMIM:115210
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Atrial septal defect, Prolonged QT interval, Noncompaction cardiomyopat...	OMIM:610198
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Hypotension, ...	OMIM:212138
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular...	ORPHA:3092
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Hepatomegaly, Prolonged QT interval, Patent foramen ovale, Ventricular fibr...	ORPHA:26793
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia	ORPHA:85447
Myofibrillar Myopathy 10	Increased QRS voltage, Prolonged QTc interval, Left ventricular hypertrophy	OMIM:619040
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa...	OMIM:310300
Adult-Onset Nemaline Myopathy	Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn...	ORPHA:171442
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Cardi...	ORPHA:602
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab...	ORPHA:1055
Trimethylaminuria	Tachycardia, Hypertension, Splenomegaly	OMIM:602079
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Coronary Arterial Fistula	Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,...	ORPHA:2041
Hemochromatosis, Type 2A	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dilated cardiom...	OMIM:602390
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa...	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	Heart block, Prolonged QT interval, Hepatomegaly, Abnormal heart morphology, Splenomegaly, Arrhyt...	ORPHA:398124
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	ORPHA:324588
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop...	ORPHA:330001
Myopathy, Distal, 4	Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di...	OMIM:614065
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra...	ORPHA:1677
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card...	OMIM:115250
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Desminopathy	Congestive heart failure, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, At...	ORPHA:98909
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Card...	OMIM:301075
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C...	ORPHA:75565
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy	OMIM:609500
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ...	OMIM:611556
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve...	ORPHA:1686
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa...	OMIM:600334
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, R...	OMIM:619424
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame...	OMIM:612999
Laing Early-Onset Distal Myopathy	Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc...	ORPHA:59135
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D...	OMIM:300952
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Mitral valve prolapse	OMIM:616166
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Muscular dystrophy, Knee flexion contracture, Calf muscle pseudohypertr...	OMIM:310200
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Chorioretinal coloboma	OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
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
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality of v...	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	Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Ve...	OMIM:616878
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b...	OMIM:609200
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Aortic valve c...	ORPHA:3093
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Atrial flutter, Abnormal tricuspid valve morphology, Angina pectoris, Bact...	ORPHA:1330
Distal Nebulin Myopathy	Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Nemaline bodies, Weaknes...	ORPHA:399103
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Hepatomeg...	ORPHA:137675
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Generalized amyotrophy, Abnormal EKG, Lower limb hypertonia, Lower limb muscle weakness	ORPHA:1177
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy	OMIM:615981
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Variegate Porphyria	Tachycardia	OMIM:176200
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98855
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	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	Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp...	OMIM:300696
Mitochondrial Dna Depletion Syndrome 11	Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ...	OMIM:615084
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg...	ORPHA:860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle...	OMIM:608807
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Atriove...	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
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98853
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Wolff-Parkinson-White syndrome, Dist...	OMIM:619566
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure	OMIM:605676
Dk1-Cdg	Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Arrhythmia, D...	ORPHA:91131
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Cataract, Optic disc pallor	OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb muscle weakness, Arthrogryposis...	OMIM:161800
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl...	OMIM:252011
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach...	ORPHA:179
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr...	ORPHA:251274
Idiopathic/Heritable Pulmonary Arterial Hypertension	Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h...	ORPHA:422
Coproporphyria, Hereditary	Tachycardia, Hypertension, Splenomegaly, Hepatomegaly	OMIM:121300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy	OMIM:300842
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ...	ORPHA:98911
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature, Dila...	OMIM:615959
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Hypertension, Hypertrophic cardiomyopathy, Di...	ORPHA:1349
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Weakness of facial musculature, Dil...	ORPHA:352447
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hyperchol...	OMIM:232700
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Gonadal dysgenesis, Retinal dysplasia	OMIM:615041
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations	ORPHA:276556
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa...	ORPHA:1345
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Increased endomysial connective tissue,...	OMIM:602541
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Cardiomyopathy, Hypotension, Arrhythmia, Ventricular tachycardia	ORPHA:159
Congenital Myopathy 4A, Autosomal Dominant	Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m...	OMIM:255310
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Limb muscle weakness, Cardiomyopathy, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio...	ORPHA:980
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Cardiomyopat...	ORPHA:399058
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Ethanolaminosis	Cardiomegaly	OMIM:227150
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Arrhythmia	ORPHA:104
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Pulmonary Hypertension, Primary, 4	Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ...	OMIM:615344
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopa...	OMIM:609308
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Bacterial endocarditis, Heart block, Premature ventricular contraction	ORPHA:1964
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block	OMIM:300695
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations	ORPHA:276575
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Optic nerve ap...	OMIM:206900
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Arrhythmia	ORPHA:35
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive...	ORPHA:308552
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Calf muscle hypertrophy, Achilles tendon contracture, Thigh hypertrophy, Dila...	OMIM:607155
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion con...	ORPHA:272
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten...	OMIM:614473
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations	ORPHA:276580
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular eje...	OMIM:614096
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa...	ORPHA:732
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ...	ORPHA:206549
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ...	OMIM:620066
Glycogen Storage Disease Ii	Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis devia...	OMIM:232300
Methanol Poisoning	Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr...	ORPHA:31825
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Supraventricular tachycardia, Premature ventricular co...	ORPHA:423
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r...	ORPHA:190
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:604091
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Drug-Induced Lupus Erythematosus	Prolonged QTc interval, Pericarditis, Pericardial effusion	ORPHA:231111
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Muscular ede...	ORPHA:268
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Autophagic vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Myofib...	OMIM:609452
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Optic disc drusen, Cystoid...	OMIM:611040
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest...	OMIM:615703
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Hepatomegaly, Reduced systolic function	OMIM:618805
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis	OMIM:618120
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas...	ORPHA:231736
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Eisenmenger Syndrome	Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef...	ORPHA:97214
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Morm Syndrome	Cataract, Retinal atrophy, Micropenis, Retinal dystrophy	ORPHA:75858
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Atrial septal defect, Hypertension, Ventricular septal defect	OMIM:613870
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc...	OMIM:608358
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Ventricular septal defect, Skeletal m...	OMIM:607598
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation, Astigmatism	OMIM:300843
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Limb-girdle muscle w...	OMIM:615352
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti...	OMIM:620609
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Kearns-Sayre Syndrome	Third degree atrioventricular block	ORPHA:480
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen...	OMIM:616812
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology...	OMIM:618654
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged QT interval	ORPHA:66634
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula...	OMIM:620152
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio...	OMIM:619167
Gitelman Syndrome	Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven...	ORPHA:358
Lecithin:Cholesterol Acyltransferase Deficiency	Corneal arcus, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia...	OMIM:245900
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr...	ORPHA:79102
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r...	ORPHA:324410
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Splenomegaly	ORPHA:90037
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Prolonged QT interval, Bradycardia, Atrial fibrillation, Splenomegaly, Tachycardia	OMIM:613327
Galactosemia Iv	Cataract, Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia	OMIM:618881
Pediatric-Onset Graves Disease	Congestive heart failure, Hepatomegaly, Atrial fibrillation, Sinus tachycardia, Hypertension, Spl...	ORPHA:525731
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed...	OMIM:600059
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:254913
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hypocholesterolemia, ...	OMIM:615558
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Cardiomyopathy, Finger joint contracture, Telangiectasia of the skin, Dilated cardiomyopathy, Mit...	OMIM:212112
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal defect, Ve...	ORPHA:49827
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy	ORPHA:71212
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Tachycardia	ORPHA:464453
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly	OMIM:607685
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:3222
Familial Atrial Myxoma	Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon...	ORPHA:615
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase ...	OMIM:615181
Barth Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Incre...	OMIM:302060
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Catar...	OMIM:251270
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio...	OMIM:620135
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Palpitations, Hepatomegaly, Tachycardia	ORPHA:324575
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop...	OMIM:608810
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:618234
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Retinopathy Of Prematurity	Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog...	ORPHA:90050
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:248360
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia	OMIM:266500
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Left ventricular hypertro...	OMIM:540000
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle...	ORPHA:86812
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A...	OMIM:204100
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Vacuolated lymphocyt...	OMIM:204200
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular edema, Macular exudate, Chorioretinal atrophy, Vi...	ORPHA:891
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Arrhythmia, Dilated cardiomyopathy, Myopathy	OMIM:609015
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Ischemic stroke, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage	ORPHA:280679
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Galactosemia Ii	Cataract, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:230200
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnormalities, Hypertrophic cardi...	ORPHA:99901
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive...	ORPHA:97292
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Portal hypertension, Skeletal muscle atrophy, Abnormal cardiomyocyte mo...	ORPHA:367
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Rett Syndrome	Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Leber Congenital Amaurosis 1	Hepatomegaly, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessel...	OMIM:204000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorio...	ORPHA:1473
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr...	OMIM:618719
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Hypertrophic cardiomyopathy	ORPHA:368
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal cardiac ventricle morphology, Monoclonal ligh...	ORPHA:85443
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchi...	ORPHA:363741
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Lacunar stroke, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage	OMIM:611773
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Friedreich Ataxia	Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy	OMIM:229300
Gitelman Syndrome	Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia	OMIM:263800
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:611126
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Indomethacin Embryofetopathy	Atrial septal defect, Ventricular septal defect, Cardiomyopathy	ORPHA:1909
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Retinal Dystrophy And Obesity	Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve...	OMIM:616188
Adenine Phosphoribosyltransferase Deficiency	Atrial fibrillation, Hypertension	ORPHA:976
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Syncope, Palpitations, Bidirecti...	OMIM:170390
Alpha-Methylacyl-Coa Racemase Deficiency	Increased circulating very long-chain fatty acid concentration, Hypergonadotropic hypogonadism, E...	OMIM:614307
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Atrial septal defect, Atrial flutter, Ventricular septal defect	OMIM:601927
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Congenital-Onset Steinert Myotonic Dystrophy	First degree atrioventricular block, Bundle branch block, Abnormal cardiac septum morphology	ORPHA:589821
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor...	ORPHA:2299
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Hemochromatosis, Type 1	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Cardiomegaly, T...	OMIM:235200
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ...	ORPHA:31826
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction	OMIM:208000
Congenital Fibrinogen Deficiency	Tachycardia, Right ventricular hypertrophy, Internal hemorrhage, Left ventricular hypertrophy	ORPHA:335
Orthostatic Hypotension 1	Atrial fibrillation, Orthostatic hypotension	OMIM:223360
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:231530
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Tricuspid regurgitation, Cerebral hemorrhage, Left ventricular dilatation, Dilated c...	OMIM:620300
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Pseudohypoparathyroidism Type 1B	Prolonged QT interval	ORPHA:94089
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ...	OMIM:614947
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Left ventricular hy...	OMIM:619048
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy	OMIM:616647
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Dextrocardia	Situs inversus totalis, Dextrocardia, Abnormal heart morphology, T-wave inversion, Abnormal EKG	ORPHA:1666
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Cardiomegaly, Pulmonary arterial hypertension, Tachycardia, Aborted sudden cardiac ...	OMIM:614921
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Decreased HDL cholesterol concentration, Cataract	OMIM:618463
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation	ORPHA:401923
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Cardiomyopathy, Flexion contracture, M...	OMIM:613155
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Congenital Heart Defects, Multiple Types, 9	Transposition of the great arteries, Single ventricle of indeterminate morphology, Truncus arteri...	OMIM:620294
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:610947
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Abnormal heart morphology	ORPHA:79264
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova...	OMIM:619343
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Cataract	OMIM:620312
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Snakebite Envenomation	Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Intracranial hemorrhage, Tachycardi...	ORPHA:449285
Hemochromatosis, Type 4	Hepatomegaly, Cardiomyopathy, Arrhythmia	OMIM:606069
Microphthalmia, Syndromic 5	Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, C...	OMIM:610125
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Hyperlysinemia, Type I	Anemia, Optic nerve hypoplasia, Hyperlysinemia, Ectopia lentis, Hypoornithinemia	OMIM:238700
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Cardiomyopathy	OMIM:613752
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione...	OMIM:618660
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure, Splenomegaly	ORPHA:90033
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g...	ORPHA:119
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hepatomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopa...	OMIM:230500
Hec Syndrome	Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia	ORPHA:2119
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac...	ORPHA:273
Myotonic Dystrophy 2	Tachycardia, Palpitations, Right bundle branch block, Premature ventricular contraction	OMIM:602668
Double Outlet Right Ventricle	Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Heart murmur, Tachycardia, Ventricula...	ORPHA:3426
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly	OMIM:615924
Hepatic Lipase Deficiency	Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:614025
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Microphthalmia, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pa...	OMIM:616171
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Kearns-Sayre Syndrome	Arrhythmia, Cardiomyopathy, Third degree atrioventricular block	OMIM:530000
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:614299
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis	OMIM:246650
X-Linked Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:98863
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy, Corneal opacity, Hypertrophi...	ORPHA:496790
Autosomal Dominant Progressive External Ophthalmoplegia	Reduced left ventricular ejection fraction, Atrial fibrillation, Left ventricular hypertrophy, Ve...	ORPHA:254892
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Car T Cell Therapy-Associated Cytokine Release Syndrome	Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,...	ORPHA:542323
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L...	OMIM:615474
14Q22Q23 Microdeletion Syndrome	Small scrotum, Cryptorchidism, Optic nerve aplasia, Anophthalmia	ORPHA:264200
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Lyme Disease	Atrioventricular block, Arrhythmia	ORPHA:91546
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Infantile Sialic Acid Storage Disease	Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly	OMIM:269920
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Joint contracture, Splenomegaly, Flexion contracture	OMIM:608540
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Hemochromatosis, Type 2B	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:613313
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmo...	OMIM:619433
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Atrioventricular canal defect, Abnormal pulmonary valve morpholo...	ORPHA:500
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular septal defect	OMIM:249270
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Unilateral cryptorchidism, Pulmonic stenosis, Aplasia/Hypoplasia of the o...	ORPHA:137634
Childhood-Onset Nemaline Myopathy	Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Scapular winging, Nemaline bodi...	ORPHA:171439
16P12.1P12.3 Triplication Syndrome	Tachycardia, Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology	ORPHA:485405
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert...	OMIM:616501
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal...	ORPHA:91495
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Facial p...	OMIM:164310
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly...	OMIM:212140
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block	ORPHA:254361
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber,...	OMIM:305390
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Cardiomyopathy	ORPHA:329336
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Glycogen Storage Disease Due To Acid Maltase Deficiency	Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Left ventricular...	ORPHA:365
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Heart murmur, Double out...	ORPHA:2326
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Tricus...	OMIM:619705
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Hypertrophic cardiomyopathy, Vaginal hernia, Optic disc pallor	ORPHA:3173
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial...	OMIM:619051
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Cataract	ORPHA:163937
Congenital Sialidosis Type 2	Hepatomegaly, Abnormal heart morphology, Hepatosplenomegaly, Abnormal EKG, Telangiectasia	ORPHA:93400
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Cryptorchidism, Cataract, Ventricular septal defect, Optic disc pallor	OMIM:613730
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	OMIM:616516
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hepatomegaly	OMIM:229700
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Decreased HDL cholesterol con...	OMIM:278000
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:618321
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Hypertension, Abnormal left ventricle morphology, Cerebral hemorrhage	OMIM:300845
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ...	OMIM:212550
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme...	OMIM:601813
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject...	ORPHA:444013
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly	OMIM:617713
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h...	ORPHA:369929
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block	OMIM:616479
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Glycogen Storage Disease Iii	Hepatomegaly, Distal amyotrophy, Ventricular hypertrophy, Cardiomyopathy, Myopathy	OMIM:232400
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Micropenis, Retinal dystrophy	OMIM:610156
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Cardiomega...	OMIM:201475
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Abnormality iris morph...	ORPHA:370959
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:156
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Cardiomyopathy, Pericarditis, Telangiec...	ORPHA:93672
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,...	OMIM:312600
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul...	OMIM:603471
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Ac...	ORPHA:3386
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at...	ORPHA:1457
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se...	OMIM:618652
Norrie Disease	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit...	OMIM:310600
Autosomal Dominant Keratitis	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Pulmonary arterial hypertension, Overriding aorta, Ventricular septal defect, Secon...	OMIM:617021
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:120433
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
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly	OMIM:253250
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Achilles ten...	OMIM:615418
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism, Chorioretinal coloboma	ORPHA:2489
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Cataract, Retinal degeneration	OMIM:277700
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati...	OMIM:605814
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,...	OMIM:300855
Hurler-Scheie Syndrome	Abnormal heart valve morphology, Hepatomegaly, Cardiomyopathy, Splenomegaly	ORPHA:93476
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Fabry Disease	Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Angi...	ORPHA:324
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
20P12.3 Microdeletion Syndrome	Atrial septal defect, Wolff-Parkinson-White syndrome	ORPHA:261295
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	ORPHA:42
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, Hyponatremia, Cataract	OMIM:620157
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Mercury Poisoning	Tachycardia, Hypertension, Hypotension	ORPHA:330021
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Tularemia	Tachycardia	ORPHA:3392
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Remnants of t...	OMIM:221900
17Q24.2 Microdeletion Syndrome	Pulmonic stenosis, Prolonged QT interval	ORPHA:529962
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract, ...	ORPHA:1381
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Muscular dystrophy, Transposition of the great arteries, Calf muscle hypert...	OMIM:253800
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormal nerve conduction velocity, Retinal detachment, Abnormal heart morp...	OMIM:182290
Infantile Refsum Disease	Hepatomegaly, Cardiomyopathy, Arrhythmia	ORPHA:772
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull...	OMIM:180105
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ...	OMIM:609286
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Right bundle branch block, Ventricular septal hypertrophy	OMIM:619322
Joubert Syndrome 40	Optic nerve hypoplasia	OMIM:619582
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl...	OMIM:607459
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo...	ORPHA:1067
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave	ORPHA:231625
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Clitoral hypertrophy, Precoc...	ORPHA:528
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemorrhage, Arrhythmia, Cardiomegaly, Dila...	OMIM:608836
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Congenital Rubella Syndrome	Atrial septal defect, Microphthalmia, Jaundice, Hepatomegaly, Anemia, Corneal opacity, Abnormalit...	ORPHA:290
Tangier Disease	Hypertriglyceridemia, Anemia, Peripheral axonal neuropathy, Facial diplegia, Corneal opacity, Chr...	ORPHA:31150
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres...	ORPHA:466650
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont...	ORPHA:466677
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect	OMIM:126320
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy	ORPHA:67048
Squalene Synthase Deficiency	Hypospadias, Optic nerve hypoplasia, Increased circulating farnesol concentration, Elevated circu...	OMIM:618156
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Hypertension, Mitral valve prolapse, Atrioventricular block, Atrial septal...	ORPHA:371428
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Tricuspid regurgitation, Dysplastic ...	OMIM:620067
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten...	OMIM:613581
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Hematochezia, Splenomegaly, Dilated cardi...	OMIM:615895
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopathy, Abnormalit...	ORPHA:565612
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase...	OMIM:616866
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,...	ORPHA:3342
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Retinal dystrophy	ORPHA:3156
Neuraminidase Deficiency	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:256550
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Gyrate Atrophy Of Choroid And Retina	Chorioretinal hyperpigmentation, Hyperornithinemia, Chorioretinal degeneration, Chorioretinal atr...	ORPHA:414
Dominant Beta-Thalassemia	Hepatosplenomegaly, Splenomegaly, Arrhythmia, Dilated cardiomyopathy, High-output congestive hear...	ORPHA:231226
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension, Decreased heart rate variability	OMIM:105120
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation, Splenomegaly, ...	OMIM:270400
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Adult-Onset Cervical Dystonia, Dyt23 Type	Supraventricular arrhythmia	ORPHA:420492
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Arrhythmia	ORPHA:93317
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Arrhythmia	ORPHA:228305
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Decreased testicular size, Cryptor...	ORPHA:85284
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia	OMIM:619013
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,...	OMIM:617877
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Facial dipleg...	OMIM:617302
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertrophic cardiomy...	ORPHA:79083
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperuricemia, Polycyst...	OMIM:604367
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia	ORPHA:250972
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Melas	Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,...	ORPHA:550
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy, Left ventricular hypertrophy	OMIM:102200
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Ventricular septal defect	OMIM:614653
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Prolonged QT interval, Cardiomyopathy, Splenomegaly, Bundle branch block, Atrial se...	ORPHA:373
Glycogen Storage Disease Iv	Hepatosplenomegaly, Cardiomyopathy, Portal hypertension, Bradycardia	OMIM:232500
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Poly...	ORPHA:2348
Cardiofaciocutaneous Syndrome 4	Ventricular septal hypertrophy, Abnormal aortic valve morphology, Optic nerve hypoplasia, Pulmoni...	OMIM:615280
Beta-Thalassemia Major	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Arrhythmia, Dilated cardiomyopathy, High-output c...	ORPHA:231214
Rhizomelic Chondrodysplasia Punctata, Type 2	Optic nerve hypoplasia, Zonular cataract, Tetralogy of Fallot, Cataract, Decreased circulating pl...	OMIM:222765
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation	ORPHA:229
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Hepatomegaly, Elevated jugular venous pressure, Cardiomyopathy, Portal ...	ORPHA:465508
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc...	ORPHA:263479
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting...	ORPHA:83461
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Hepatomegaly	ORPHA:263455
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis	OMIM:177000
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis	OMIM:608600
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Septooptic Dysplasia	Optic nerve hypoplasia, Optic disc hypoplasia	OMIM:182230
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies	OMIM:616549
Griscelli Syndrome Type 1	Retinopathy, Iris hypopigmentation, Hyperlipidemia	ORPHA:79476
Holt-Oram Syndrome	Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle, Perimembranous ventricul...	OMIM:142900
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Retinopathy, Cataract	OMIM:183800
Friedreich Ataxia 2	Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro...	OMIM:601992
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Marfan Syndrome	Congestive heart failure, Tricuspid valve prolapse, Aortic regurgitation, Mitral valve calcificat...	ORPHA:558
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage	ORPHA:99931
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic v...	OMIM:615382
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Hepatomegaly, Cardiac arrest, Hypotension	ORPHA:20
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hepatomegaly, Supraventricular ar...	ORPHA:280365
Cap Myopathy	Sinus tachycardia, Mitral valve prolapse, Reduced systolic function	ORPHA:171881
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Abnormal retinal morphology	ORPHA:89844
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary ar...	OMIM:614008
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Hepatomegaly, Hypospadias, Optic nerve hypoplasia, Corneal opacity, Elevated circula...	OMIM:301056
Mitochondrial Dna-Associated Leigh Syndrome	Dilated cardiomyopathy, Cardiac conduction abnormality, Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:255210
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Decreased testicul...	ORPHA:66628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulati...	OMIM:614643
45,X/46,Xy Mixed Gonadal Dysgenesis	Tachycardia, Bicuspid aortic valve, Prolonged QT interval	ORPHA:1772
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Temple Syndrome	Hypertriglyceridemia, Precocious puberty, Decreased testicular size, Cryptorchidism, Hypercholest...	OMIM:616222
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy	OMIM:619259
Dopamine Beta-Hydroxylase Deficiency	Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope	ORPHA:230
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor...	ORPHA:363705
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microphthalmia, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, ...	OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Hyp...	OMIM:236670
Carney Triad	Tachycardia, Gastrointestinal hemorrhage, Hypertension, Arrhythmia	ORPHA:139411
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Oculoauricular Syndrome	Microphakia, Microphthalmia, Ocular anterior segment dysgenesis, Posterior synechiae of the anter...	OMIM:612109
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Decreased testicul...	ORPHA:179494
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Polycystic ovaries, Hepatic steatosis	ORPHA:435651
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Leopard Syndrome 1	Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle branch block, Mitral valve prolapse, Third...	OMIM:151100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, H...	ORPHA:264580
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation	ORPHA:261250
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Pe...	OMIM:243605
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Acute pancreatit...	ORPHA:444490
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility	ORPHA:158687
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Cardiomegaly	ORPHA:228308
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia, Patent foramen ovale, Bone marrow hypocellul...	OMIM:609053
Craniotelencephalic Dysplasia	Optic atrophy, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension	ORPHA:43116
Non-Functioning Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:94080
Pseudohypoparathyroidism Type 1C	Prolonged QT interval	ORPHA:79444
Polyarteritis Nodosa	Pericarditis, Hypertension, Cardiomyopathy, Raynaud phenomenon	ORPHA:767
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Optic nerve hypoplasia, Optic disc hypoplasia, Keratoconus	ORPHA:401777
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Hepatomegaly	OMIM:251110
Truncus Arteriosus	Transposition of the great arteries, Aortic regurgitation, Cardiomegaly, Abnormal heart valve mor...	ORPHA:3384
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Premature ventricular contraction, Biventricular hypertrophy, Hy...	OMIM:620504
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr...	OMIM:300578
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Enlarged kidney, Patent foramen ovale, Tricuspid regurgitation, Pulmona...	ORPHA:505248
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Elevated circulating creati...	ORPHA:435660
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia	OMIM:614306
Phace Association	Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Developmental cataract, Increased retinal ...	OMIM:606519
Stickler Syndrome Type 1	Retinal detachment, Abnormal vitreous humor morphology, Mitral valve prolapse, Cataract	ORPHA:90653
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia	OMIM:618890
Refsum Disease	Heart block, Cardiomyopathy, Splenomegaly	ORPHA:773
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V...	ORPHA:279914
Smith-Magenis Syndrome	Hypertriglyceridemia, Retinal detachment, Microcornea, Precocious puberty, Hypercholesterolemia	ORPHA:819
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Scimitar an...	OMIM:618280
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat...	ORPHA:247585
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Double inlet left ventricle, Atrial reentry tachycardia, Dextrocar...	OMIM:270100
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract	ORPHA:250984
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hepatic steatosis	ORPHA:363400
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Hypospadias, Ovotestis, ...	OMIM:610644
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Scimitar Syndrome	Congestive heart failure, Abnormal hemidiaphragm morphology, Heart block, Tricuspid atresia, Dext...	ORPHA:185
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu...	ORPHA:3427
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Cardiomyopathy, Myopathy	ORPHA:1215
Renal Nutcracker Syndrome	Syncope, Orthostatic hypotension, Tachycardia	ORPHA:71273
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Hepatomegaly, Hypertension, Pulmonary arteri...	OMIM:619573
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hepatomegaly	ORPHA:348
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Hypocalcemia, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Rhabdomyolysis, Dilat...	OMIM:610505
Galactose Mutarotase Deficiency	Cataract, Hepatomegaly, Cholestasis, Hypergalactosemia	ORPHA:570422
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Pulmonic stenosis, Abnormal heart morphology, Left ven...	ORPHA:284984
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene...	OMIM:214110
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Iris hyp...	ORPHA:79477
Dpagt1-Cdg	Hepatomegaly, Prolonged QT interval, Intracranial hemorrhage	ORPHA:86309
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven...	OMIM:618775
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Hypopro...	OMIM:609049
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hepatic steatosis	OMIM:615238
Idiopathic Hypereosinophilic Syndrome	Congestive heart failure, Myocardial eosinophilic infiltration, Supraventricular arrhythmia, Tran...	ORPHA:3260
Rh Deficiency Syndrome	Tachycardia, Hepatosplenomegaly	ORPHA:71275
5Q14.3 Microdeletion Syndrome	Optic nerve hypoplasia	ORPHA:228384
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Cryptorchidism, Male hypogonadism, Hepatic steatosis	OMIM:615381
Pseudohypoparathyroidism Type 1A	Hypertension, Prolonged QT interval	ORPHA:79443
Seckel Syndrome 10	Hypertriglyceridemia, Retinal detachment, Ventricular hypertrophy, Acute pancreatitis, Elevated h...	OMIM:617253
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Dysbetalipoproteinemia	Corneal arcus, Xanthelasma, Hypertriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concent...	ORPHA:412
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Male...	ORPHA:168563
Alagille Syndrome 1	Hypertriglyceridemia, Abnormal anterior chamber morphology, Cirrhosis, Band keratopathy, Choriore...	OMIM:118450
Porphyria Variegata	Tachycardia, Hypertension	ORPHA:79473
Sepsis In Premature Infants	Hepatomegaly, Bradycardia, Hypotension, Splenomegaly, Tachycardia	ORPHA:90051
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Supraventricular tachycardia with an accessory connection mediated pathway,...	ORPHA:404443
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Cardiomyopathy, Subcapsular cataract, Abnormal granulocyte mo...	ORPHA:98907
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Decreased nerve conduction velocity, Subcapsular cataract, Cataract, Rod-cone dyst...	OMIM:612674
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Splenomegaly, Neutropenia, ...	ORPHA:167
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Reni Syndrome	Hypertriglyceridemia, Hypogonadism, Lymphopenia, Hypoalbuminemia, Cryptorchidism, Micropenis	OMIM:617575
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic...	ORPHA:364055
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Hypospadias	ORPHA:363686
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Hepatocellular car...	ORPHA:79240
Illum Syndrome	Bradycardia	OMIM:208155
Trichothiodystrophy 5, Nonphotosensitive	Decreased testicular size, Optic nerve hypoplasia, Micropenis, Retinal dystrophy	OMIM:300953
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Optic nerve hypoplasia	OMIM:620502
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Diffuse alveolar hemorrhage, Myo...	ORPHA:99827
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar...	OMIM:615986
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal detachment, Retinal dystr...	ORPHA:899
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Hypertension, Pulmonary arterial hypertension	OMIM:613320
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Bacterial Toxic-Shock Syndrome	Myocarditis, Capillary leak, Hypotension, Tachycardia, Shock	ORPHA:36234
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic active hepat...	OMIM:203800
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Cholera	Tachycardia, Hypovolemic shock, Hypotension	ORPHA:173
Rabin-Pappas Syndrome	Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, Hyponatremia, Cataract	OMIM:620155
Noonan Syndrome	Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hypertrophic cardiomyopathy, ...	ORPHA:648
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Left ventricular hypertrophy, ...	ORPHA:746
Peroxisome Biogenesis Disorder 9B	Cataract, Cardiomyopathy, Elevated circulating phytanic acid concentration, Rod-cone dystrophy	OMIM:614879
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Retinal dystrophy, Anophthalmia, Microcornea, Sclerocornea, Chorioretinal colobom...	ORPHA:139471
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary...	OMIM:620642
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus a...	OMIM:601186
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Sarcoidosis	Heart block, Hepatomegaly, Abnormal cardiac ventricular function, Portal hypertension, Arrhythmia...	ORPHA:797
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Tachycardia, Hypotension, Splenomegaly, Syncope	ORPHA:98849
Galactokinase Deficiency	Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic hypog...	ORPHA:79237
Hyperferritinemia With Or Without Cataract	Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,...	OMIM:600886
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,...	OMIM:264800
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Sweet Syndrome	Small vessel vasculitis, Dilated cardiomyopathy, Myositis	ORPHA:3243
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa...	ORPHA:79086
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Vici Syndrome	Congestive heart failure, Atrial septal defect, Cardiomyopathy, Left ventricular hypertrophy, Dil...	OMIM:242840
Hypogonadism-Cataract Syndrome	Cataract, Male hypogonadism, Hypogonadism	OMIM:240950
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:616722
Cerebral Visual Impairment	Optic atrophy, Optic nerve hypoplasia, Increased cup-to-disc ratio, Retinopathy of prematurity, O...	ORPHA:447788
Phace Syndrome	Microphthalmia, Retinal vascular malformation, Abnormal cardiac septum morphology, Optic nerve hy...	ORPHA:42775
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy	OMIM:616541
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Atrial septal defect, Right bundle branch block, Hypertrophic cardiomyo...	OMIM:617403
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp...	ORPHA:567548
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Conjunctivitis, Thrombocytopenia, Sp...	OMIM:617591
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, Hepatocellular carc...	ORPHA:369
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616897
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Graft Versus Host Disease	Tachycardia, Hepatosplenomegaly	ORPHA:39812
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia, Abnormal T-wave	ORPHA:2131
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect	OMIM:615879
Nabais Sa-De Vries Syndrome, Type 1	Optic nerve hypoplasia, Prolonged neonatal jaundice	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	Hepatomegaly, Vasculitis, Hypertension, Portal hypertension, Hepatosplenomegaly, Raynaud phenomen...	OMIM:615688
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Hyperlipidemia, Mildly elevated creatine kinase, Decreased number of periphe...	OMIM:604484
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hepatomegaly, Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia	OMIM:277400
Nance-Horan Syndrome	Retinal detachment, Microphthalmia, Cataract, Microcornea	ORPHA:627
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e...	OMIM:610256
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
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cry...	ORPHA:3301
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid valve prolapse, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral valve prol...	ORPHA:2556
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Patent foramen ovale, Right bundle branch block, Hypertrophic cardiomyopathy, Tricuspid regurgita...	OMIM:617506
Verheij Syndrome	Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect	OMIM:615583
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Cardiomyopathy, Dilat...	ORPHA:363623
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature	OMIM:201470
Galactosemia I	Increased level of galactitol in red blood cells, Cirrhosis, Hepatomegaly, Increased level of gal...	OMIM:230400
Wolfram Syndrome 1	Optic atrophy, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Cata...	OMIM:222300
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia...	OMIM:151660
Hyperoxaluria, Primary, Type I	Atrioventricular block, Intermittent claudication, Raynaud phenomenon, Arterial occlusion	OMIM:259900
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm	ORPHA:523
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa...	ORPHA:99228
Monosomy X	Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa...	ORPHA:881
H Syndrome	Corneal arcus, Hypertriglyceridemia, Lymphadenopathy, Azoospermia, Decreased testicular size, Hep...	ORPHA:168569
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Neuroleptic Malignant Syndrome	Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Arrhythmia, Tachycardia, Pulmonary e...	ORPHA:94093
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Cerebellar-Facial-Dental Syndrome	Limb hypertonia, Foot joint contracture, Mitral valve prolapse, Ventricular septal defect, Abnorm...	ORPHA:444072
D-Glyceric Aciduria	Optic nerve hypoplasia, Elevated circulating D-glyceric concentration, Micropenis, Nonketotic hyp...	OMIM:220120
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease...	ORPHA:77293
Lissencephaly Due To Tuba1A Mutation	Optic nerve hypoplasia, Aganglionic megacolon	ORPHA:171680
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Idiopathic Panuveitis	Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju...	ORPHA:280921
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hyperammonemia, Abnor...	ORPHA:470
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating creatine ki...	ORPHA:79095
Sickle Cell Disease	Cardiomegaly, Hypertension, Splenomegaly, Hepatomegaly	OMIM:603903
Proteus-Like Syndrome	Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Splenomegaly, Cataract, Limbal derm...	ORPHA:2969
Loeys-Dietz Syndrome 3	Aortic regurgitation, Atrial fibrillation, Ventricular hypertrophy, Pulmonic stenosis, Subarachno...	OMIM:613795
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia	OMIM:618381
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,...	OMIM:277460
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, ...	ORPHA:585
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Atrial septal defect, Dysplastic pulmonary valve, Tricuspid regurgi...	OMIM:612863
Neutral Lipid Storage Myopathy	Congestive heart failure, Generalized limb muscle atrophy, Rimmed vacuoles, Cardiomyopathy, Hand ...	ORPHA:98908
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Pearson Syndrome	Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol...	ORPHA:699
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Septo-Optic Dysplasia Spectrum	Optic nerve hypoplasia, Cryptorchidism, Septo-optic dysplasia, Hypoplasia of penis	ORPHA:3157
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Abnormal heart morphology, Dilated cardiomyopathy, Pulmonary emb...	ORPHA:79282
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Hyp...	OMIM:617053
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocyt...	OMIM:309801
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Cardiomyopathy, Elevated circulating cr...	OMIM:610717
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Melena, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, Epistaxis, S...	ORPHA:340
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension	OMIM:268800
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Ventricular septal hypertrophy, Hepatomegaly, Clitoral hypertrop...	OMIM:269700
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia, Small scrotum, Microcornea, Developmental cataract, Cataract, Cryp...	OMIM:614225
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Acute Intermittent Porphyria	Tachycardia, Hypertension	ORPHA:79276
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection f...	ORPHA:581
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy	ORPHA:369847
Progeria-Short Stature-Pigmented Nevi Syndrome	Supraventricular arrhythmia	ORPHA:2959
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Cataract 47	Cataract, Microcornea	OMIM:612018
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary art...	OMIM:615812
Meier-Gorlin Syndrome 7	Heart block, Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal def...	OMIM:617063
Chromosome 2P16.1-P15 Deletion Syndrome	Optic nerve hypoplasia, Decreased testicular size, Hypogonadism, Cryptorchidism, Micropenis	OMIM:612513
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Optic nerve hypoplasia	ORPHA:572013
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Cardiomyopathy, Acute pancre...	OMIM:608594
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Anisocoria, Cataract, Abnormal pupil shape, Hypogonadotropic hypogonadism	ORPHA:45358
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Retinal dystrophy, Azotemia, Hypoplasia of the ovary, Optic nerve hypoplasia, Leuk...	OMIM:619321
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Tricuspid regurgitation	OMIM:620306
White-Sutton Syndrome	Astigmatism, Optic nerve hypoplasia, Patent foramen ovale, Atrial septal defect, Rod-cone dystrop...	OMIM:616364
Hamamy Syndrome	Atrial septal defect, Mitral regurgitation, Complete atrioventricular canal defect, Prolonged QRS...	OMIM:611174
Bardet-Biedl Syndrome	Hypertriglyceridemia, Hydrometrocolpos, Decreased HDL cholesterol concentration, Aganglionic mega...	ORPHA:110
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Optic nerve hypoplasia, Cataract, Atrial septal defect, Ventricular septal...	ORPHA:79345
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:276621
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Knobloch Syndrome	Abnormal vitreous humor morphology, Dextrocardia, Retinal detachment, Macular degeneration, Vitre...	ORPHA:1571
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Astigmatism, Retinal dystrophy, H...	OMIM:209900
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp...	ORPHA:91387
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypomagnesemia, Hypoalbum...	OMIM:618183
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospad...	ORPHA:508498
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
Primary Hyperoxaluria	Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Arterial occlusion	ORPHA:416
Spastic Paraplegia 54, Autosomal Recessive	Optic nerve hypoplasia	OMIM:615033
Leptospirosis	Hepatomegaly, Hypotension, Retinal hemorrhage, Pericarditis, Subconjunctival hemorrhage, Arrhythm...	ORPHA:509
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Reduced left ventricular ejection fraction, Myositis, Cardiomyopathy, Facial ...	ORPHA:258
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, External genital hypoplasia, Hypop...	OMIM:176270
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Ventricular hypertrophy, Mitral valve calcification, Pulmonary carcinoid tu...	ORPHA:363618
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma,...	ORPHA:2088
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Anemia	OMIM:603278
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Jaundice, Anemia, Hyperkalemia, Microvesicular he...	ORPHA:275761
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Patent foramen ovale, Right bundle branch block, Tricuspid regurgitation, M...	OMIM:617402
Fg Syndrome Type 1	Hypospadias, Optic nerve hypoplasia, Mitral valve prolapse, Atrial septal defect, Cryptorchidism	ORPHA:93932
Papillorenal Syndrome	Microphthalmia, Retinal detachment, Macular degeneration, Chorioretinal atrophy, Lens luxation, R...	OMIM:120330
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c...	ORPHA:79098
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Norrie Disease	Optic atrophy, Abnormal chorioretinal morphology, Microphthalmia, Abnormal vitreous humor morphol...	ORPHA:649
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Marburg Hemorrhagic Fever	Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj...	ORPHA:99826
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Astigmatism, Restrictive cardiomyopathy, Precocious puberty, Abnormal heart...	ORPHA:369837
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Hy...	ORPHA:79259
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Facial palsy, Decreased testicular size, Hypogonadism	ORPHA:261349
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating...	OMIM:615980
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Microcornea, C...	ORPHA:141099
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
African Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Pericarditis, Hepatosplenomegaly, Splenomega...	ORPHA:3385
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff...	ORPHA:91347
Aniridia-Absent Patella Syndrome	Cataract, Cryptorchidism, Aniridia	ORPHA:1069
Meckel Syndrome	Optic atrophy, Abnormal chorioretinal morphology, Microphthalmia, Situs inversus totalis, Anophth...	ORPHA:564
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Hypogonadism, Cataract, Pigme...	OMIM:610651
Plague	Hematemesis, Hepatomegaly, Hypotension, Splenomegaly, Arrhythmia, Tachycardia, Endocarditis	ORPHA:707
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic nerve hypoplasia, Optic disc pallor, Retinal coloboma	OMIM:300749
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Astigmatism, Pericardial effusion, Mitral valve prolapse, Cryptorchidism, K...	ORPHA:536532
Atelis Syndrome 2	Microphthalmia, Anemia, Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, ...	OMIM:620185
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia, Aplasia of the uterus, Uterus didelphys, Abnormal heart morp...	ORPHA:2237
Congenital Tufting Enteropathy	Cholestatic liver disease, Steatorrhea, Corneal erosion, Punctate keratitis, Optic disc coloboma,...	ORPHA:92050
Yellow Fever	Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri...	ORPHA:99829
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Optic nerve hypoplasia, Abnormal heart valve morphology, Corneal ...	ORPHA:536471
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Hypoplastic labi...	ORPHA:495875
Von Hippel-Lindau Disease	Myocarditis, Hypertension, Cardiomyopathy, Arrhythmia, Palpitations, Abnormal left ventricular fu...	ORPHA:892
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Pulmonary arterial hypertension, Pulmonic stenosis, Facial telangiectasia, Hepatosp...	OMIM:602782
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia	OMIM:617864
Charcot-Marie-Tooth Disease Type 1F	Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,...	ORPHA:101085
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Posterior subcapsular cataract, Peripheral schwannoma, Facial palsy, Abnormal ...	ORPHA:637
Schwannomatosis, Vestibular	Retinal hamartoma, Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opac...	OMIM:101000
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema	OMIM:146255
Microtriplication 11Q24.1	Keratoconus, Hyperlipidemia	ORPHA:289522
Legius Syndrome	Pulmonic stenosis, Paroxysmal atrial tachycardia, Mitral valve prolapse	ORPHA:137605
19P13.13 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia	ORPHA:357001
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
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	Abnormal cardiac septum morphology, Abnormal heart valve morphology, Camptodactyly of finger, Tet...	ORPHA:1606
Pancreatic And Cerebellar Agenesis	Anemia, Optic nerve hypoplasia, Pancreatic hypoplasia, Pancreatic aplasia, Secundum atrial septal...	OMIM:609069
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Hypertrophic cardi...	OMIM:252500
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology	ORPHA:300570
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Orthostatic hypotension, Developmental cataract, Recurrent pancreatitis, Ca...	OMIM:606721
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv...	ORPHA:168558
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Ele...	OMIM:256040
Atypical Werner Syndrome	Hypertriglyceridemia, Ovarian neoplasm, Abnormal testis morphology, Aortic valve stenosis, Abnorm...	ORPHA:79474
Holoprosencephaly 13, X-Linked	Optic nerve hypoplasia, Patent foramen ovale, Septo-optic dysplasia, Double outlet right ventricl...	OMIM:301043
Congenital Tracheomalacia	Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalou...	ORPHA:95430
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv...	ORPHA:289548
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Steatorrhea, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia,...	OMIM:269200
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Microphthalmia, Syndromic 2	Microphthalmia, Dextrocardia, Hypospadias, Anophthalmia, Retinal detachment, Microcornea, Remnant...	OMIM:300166
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ...	OMIM:607872
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Flexion contracture, Foot joint contracture	ORPHA:79408
Degcags Syndrome	Hepatomegaly, Dysplastic pulmonary valve, Patent foramen ovale, Pulmonary arterial hypertension, ...	OMIM:619488
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Angina pectoris, Hypertension, Mitral regurgita...	ORPHA:391665
Multiple Endocrine Neoplasia Type 1	Hematemesis, Hypertension, Shortened QT interval, Melena	ORPHA:652
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Hypertension, Cardiac myxoma, Supraventricular tachycardia	OMIM:181270
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly	OMIM:130650
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Hypoplastic male external genitalia, Iris coloboma, Anophthalmia	OMIM:605627
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Attenuation of retin...	ORPHA:468631
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Optic nerve hypoplasia, B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, R...	ORPHA:221139
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Choreoacanthocytosis	Distal amyotrophy, Muscle fiber atrophy, Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy	ORPHA:2388
19P13.12 Microdeletion Syndrome	Hypospadias, Hyperlipidemia, Cryptorchidism, Precocious puberty, Atrial septal defect, Ventricula...	ORPHA:254346
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Septo-optic dysplasia, Hypoplasia of penis	ORPHA:95496
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Asparagine Synthetase Deficiency	Optic nerve hypoplasia, Hypoasparaginemia	OMIM:615574
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Familial Multiple Lipomatosis	Hyperlipidemia, Chorioretinitis, Abnormal tricuspid valve morphology	ORPHA:199276
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Glycogen Storage Disease Ib	Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia,...	OMIM:232220
Hydranencephaly	Optic nerve hypoplasia, Chorioretinal atrophy, Dilatation of the ventricular cavity	ORPHA:2177
Rhombencephalosynapsis	Aganglionic megacolon, Abnormality of the uterus, Septo-optic dysplasia	ORPHA:59315
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,...	ORPHA:3109
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Abnormal optic nerve morphology, Cryptorchidism, Abnormal heart morpholog...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Abnormal optic nerve morphology, Cryptorchidism, Abnormal heart morpholog...	ORPHA:352665
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Hypertriglyceridemia, Optic disc hypoplasia, Hypospadias, Dysplastic pulmonary val...	ORPHA:3455
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Optic nerve hypoplasia, Aortopulmonary window, Ventricular septal defect, Cryptorch...	OMIM:620025
Marshall-Smith Syndrome	Optic nerve hypoplasia, Dysplastic aortic valve, Cryptorchidism, Bilateral cryptorchidism, Atrial...	OMIM:602535
Craniosynostosis 4	Optic nerve hypoplasia	OMIM:600775
Abetalipoproteinemia	Cardiomegaly, Congestive heart failure, Hepatomegaly	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, Precocious puberty in males, Elevated serum 11-deoxycortisol, Hypokalemia, ...	OMIM:202010
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism	OMIM:307030
Alg9-Cdg	Atrial septal defect, Torticollis, Abnormal left ventricular outflow tract morphology, Hypoplasia...	ORPHA:79328
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Alström Syndrome	Hypertriglyceridemia, Precocious puberty in females, Hyperlipidemia, Splenomegaly, Retinal pigmen...	ORPHA:64
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cardiomegaly, Patent foramen ovale, Tricuspid regurgitation, Retinal hemorrhage, Cerebral hemorrh...	OMIM:620371
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Corneal opacity, Hyperlipidemia, ...	ORPHA:1830
Fucosidosis	Cardiomegaly, Hepatomegaly	ORPHA:349
Mogs-Cdg	Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect	ORPHA:79330
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, P...	OMIM:614437
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Hepatomegaly, Macrovesicular hepatic steatosis, Patent foramen ovale, Mitra...	OMIM:619127
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration,...	ORPHA:157
Aicardi-Goutières Syndrome	Cardiomegaly, Hepatosplenomegaly, Raynaud phenomenon, Hypertrophic cardiomyopathy	ORPHA:51
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Glycogen Storage Disease Ia	Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia,...	OMIM:232200
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Meckel Syndrome 14	Microphthalmia, Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis, Single ventricle	OMIM:619879
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect	OMIM:617022
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Atrioventricular canal defect, Optic nerve hypoplasia, Truncus arterios...	ORPHA:508488
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Aromatase Deficiency	Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo...	ORPHA:91
Gaucher Disease, Perinatal Lethal	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:608013
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypospadias, Long penis, Hypoplasia of the thymus, Secundum atrial septal d...	OMIM:264090
Baller-Gerold Syndrome	Optic atrophy, Anomalous splenoportal venous system, Astigmatism, Rectovaginal fistula, Optic ner...	OMIM:218600
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Hepatomegaly, Portal hypertension, Splenomegaly, Di...	OMIM:243800
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Neuroocular Syndrome	Microphthalmia, Microcornea, Stellate iris, Patent foramen ovale, Remnants of the hyaloid vascula...	OMIM:619539
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia, Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology	ORPHA:3320
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly	OMIM:620376
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th...	ORPHA:284339
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Choroidal neovascularization, Iris nevus, Normochromic ane...	ORPHA:91500
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Hypogonadotropic hypogonadism, Prolonged neonatal jaundice	ORPHA:226307
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Anemia, Aplasia of the uterus, Corneal opacity, Leukocytosis, Tetr...	OMIM:274000
Yunis-Varon Syndrome	Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, Renovascular hypertension, Tetralo...	ORPHA:3472
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis...	ORPHA:90794
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperlipidemia, Hyperaldosteronism, Paradoxical increased cortisol secretion on dexamethasone sup...	ORPHA:189427
Williams Syndrome	Abnormal endocardium morphology, Congestive heart failure, Cardiomegaly, Hypertension, Cerebral i...	ORPHA:904
Singleton-Merten Syndrome 1	Congestive heart failure, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcifi...	OMIM:182250
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Optic nerve hypoplasia, Phimosis, Secundum atrial septal defect, Chordee	OMIM:620455
Fucosidosis	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:230000
Liver Disease, Severe Congenital	Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Systolic heart murmur, Dilatation of...	OMIM:619991
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis	OMIM:610829
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Hypertension, Weak pulse, Transient ischemic attack, Pulmo...	ORPHA:51608
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome...	ORPHA:116
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Optic nerve hypoplasia, Ventricular septal defect, Small scrotum	OMIM:620330
Combined Pituitary Hormone Deficiencies, Genetic Forms	Decreased testicular size, Optic nerve hypoplasia, Hypogonadotropic hypogonadism, Septo-optic dys...	ORPHA:95494
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Optic nerve hypoplasia, Abnormal heart morphology, Absent gallbladder, Atrial sept...	ORPHA:500150
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Okamoto Syndrome	Astigmatism, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenos...	ORPHA:2729
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract, Hyperlipidemia	ORPHA:90153
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Aplasia of the uterus, Bone marrow hypocellularity, Micropenis	OMIM:614083
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Hydrolethalus Syndrome 1	Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus, Ventricu...	OMIM:236680
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Rieger ...	OMIM:194190
Glycogen Storage Disease Ic	Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperli...	OMIM:232240
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:96191
Holoprosencephaly 2	Microphthalmia, Iris coloboma, Remnants of the hyaloid vascular system, Chorioretinal coloboma, S...	OMIM:157170
Neu-Laxova Syndrome 1	Microphthalmia, Transposition of the great arteries, Pterygium, Patent foramen ovale, Cryptorchid...	OMIM:256520
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia, Hydrocele testis	ORPHA:567546
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	Hypercholesterolemia, Calcinosis, Hepatomegaly, Hyperlipidemia	OMIM:248370
Viss Syndrome	Atrial septal defect, Epidural hemorrhage, Patent foramen ovale, Contracture of the proximal inte...	OMIM:619472
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism	OMIM:614527
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Abnormal heart m...	ORPHA:322
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Keratoconus, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prola...	OMIM:130050
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Cryptorchidism, Bifid ut...	OMIM:107480
Limb-Mammary Syndrome	Aplasia of the uterus, Chronic irritative conjunctivitis, Aplasia of the ovary	ORPHA:69085
Chilton-Okur-Chung Neurodevelopmental Syndrome	Hypospadias, Patent foramen ovale, Septo-optic dysplasia, Chordee, Cryptorchidism, Micropenis	OMIM:619841
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Astigmatism, Hypospadias, Aplasia of the uterus, Cryptorchidism, Tetralogy ...	OMIM:135900
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Uterine rupture, Abnormal heart valve morphology, Keratoconus, Uterine ...	ORPHA:286
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Abnormal autonomic nervous system physiology, Ganglioneuroma	ORPHA:293987
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Small scrotum, Labial hypoplasia, Aplasia of the uterus...	OMIM:601803
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	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 21.0 Data