Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Hadhb MGI:2136381

Gene Summary

Name:

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

Synonyms:

Mtpb, 4930479F15Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal eye anterior chamber depth	Hadhb^em1(IMPC)Bay	HET	Early adult	7.20×10^-05
preweaning lethality, incomplete penetrance	Hadhb^em1(IMPC)Bay	HOM	Early adult	0.00
decreased fasting circulating glucose level	Hadhb^em1(IMPC)Bay	HET	Early adult	6.79×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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.

Eye Morphology

VIP of left fundus

16 Images

View images

Eye Morphology

VIP of right eye

16 Images

View images

MicroCT E18.5

Embryo reconstruction

5 Images

View images

Eye Morphology

VIP of left eye

16 Images

View images

Eye Morphology

VIP of right fundus

16 Images

View images

Human diseases caused by Hadhb 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 Hadhb (2 diseases)
Human diseases predicted to be associated with Hadhb (953 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Mitochondrial Trifunctional Protein Deficiency		Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ...	ORPHA:746
Mitochondrial Trifunctional Protein Deficiency 2		Tricuspid regurgitation, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat...	OMIM:620300

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

Disease	Matching phenotypes	Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellit...	OMIM:610717
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer...	OMIM:619048
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block...	OMIM:310300
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl...	ORPHA:63273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hypoglycemia, Hepatomegaly	OMIM:609016
Plin1-Related Familial Partial Lipodystrophy	Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hypertriglycer...	ORPHA:280356
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Myocardial infarction, Congestive heart failure, Insulin resistance, Obesit...	OMIM:615703
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Diabetes mellitus, Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffness, Distal lowe...	ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Cardiomyopathy, Myopathy, Intrauterine growth retardation, Failure to thriv...	ORPHA:26792
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiac arres...	OMIM:212138
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Diabetes melli...	ORPHA:263297
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Glucose intolerance,...	OMIM:606069
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hepatic steatosis, Diabetes mellitus, Lipodystrophy, Hyperlipidemia, Ins...	OMIM:615980
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ...	OMIM:618234
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98855
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Short stature, Hypoglycemia...	OMIM:232400
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:610198
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Nathalie Syndrome	Arrhythmia, Short stature	ORPHA:2663
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges...	OMIM:212140
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert...	ORPHA:79083
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia	ORPHA:85447
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Left bundle branch...	OMIM:608758
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98863
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Short statur...	OMIM:255160
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,...	ORPHA:79084
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom...	ORPHA:369
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi...	ORPHA:300751
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:604367
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Congestive heart failure, A...	ORPHA:528
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hypoglycemia, Hepatomegaly	ORPHA:35
Nathalie Syndrome	Growth delay, Abnormal EKG, Skeletal muscle atrophy	OMIM:255990
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl...	ORPHA:276580
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Gitelman Syndrome	Maternal diabetes, Glucose intolerance, Prominent U wave, Abnormal T-wave, Pericardial effusion, ...	ORPHA:358
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle	OMIM:255100
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Cardiomyopa...	ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy...	OMIM:616198
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Short sta...	OMIM:612526
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizure...	ORPHA:276556
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:613752
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m...	OMIM:609308
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Growt...	OMIM:231530
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Sy...	ORPHA:276575
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis	OMIM:615119
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,...	ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia, Short stature, Camptodactyly	OMIM:618453
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Dilated cardiomyopathy, El...	OMIM:618805
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se...	ORPHA:26793
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Acute pancreatitis, Insulin re...	ORPHA:79086
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Sudden cardia...	ORPHA:156
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased intraabdominal fat, Hepatic steatosis, Muscle hypertrophy of the lower extremities, Hep...	ORPHA:280365
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Cachexia, Car...	ORPHA:42
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail...	ORPHA:139507
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness...	OMIM:619903
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Increased connective tissue, Dilated cardiomy...	OMIM:616827
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy, Failure to thrive	OMIM:619651
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Diabetes mellitus, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, L...	ORPHA:1177
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,...	OMIM:160500
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	OMIM:151660
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Car...	OMIM:201475
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Foot dorsiflexor weakness	OMIM:618400
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Congestive heart failure, Intrauterine growth retardation, Hypertro...	OMIM:615440
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Arrhythmia, Shoulder girdle muscle weakness, Muscular dystrophy	OMIM:310095
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Endocardial Fibroelastosis	Congestive heart failure, Hypoglycemia, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Proportionate short ...	ORPHA:71212
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, La...	ORPHA:324575
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea...	ORPHA:99901
Myopathy, Distal, Tateyama Type	Elevated circulating aspartate aminotransferase concentration, Hand muscle weakness, Centrally nu...	OMIM:614321
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller t...	OMIM:300580
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Hepatic steatosis, Hepatomegaly, Short stature, Elevated circulating aspartate amin...	OMIM:614921
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619386
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet...	ORPHA:488650
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir...	OMIM:602390
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Failure to thrive, Hypoglycemia, Decreased liver function	ORPHA:67048
Neutral Lipid Storage Myopathy	Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc...	ORPHA:98908
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Lipo...	OMIM:613327
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi...	OMIM:540000
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated hepatic transaminase, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, ...	OMIM:612937
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Heart block, Splenomegaly, Di...	ORPHA:398124
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Intrauterine growth retardation,...	OMIM:608540
Dpm3-Cdg	Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystroph...	ORPHA:263494
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Reduced subcutaneous adipose tissue, Short stature, Dilated cardiomyopathy, Decreased body weight...	OMIM:618097
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale...	OMIM:614582
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega...	ORPHA:435660
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Abnormal heart morphology, Decreased liver function, Hypertrophic cardi...	ORPHA:70472
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generaliz...	OMIM:616516
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca...	OMIM:601005
Patent Ductus Venosus	Hepatic steatosis, Persistent patent ductus venosus, Decreased liver function, Congenital portosy...	OMIM:601466
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy...	OMIM:615352
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert...	OMIM:615381
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block	ORPHA:480
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Ge...	ORPHA:52430
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Myopathy	ORPHA:91130
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Prolonged QRS complex, Supraventricular tachycardia, Foot dorsiflexor we...	ORPHA:273
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis...	ORPHA:264580
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Acquired Partial Lipodystrophy	Myopathy, Insulin resistance, Lipoatrophy, Hepatic steatosis	ORPHA:79087
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ...	ORPHA:746
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals...	OMIM:619424
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat...	OMIM:613313
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Obesity	OMIM:620270
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc...	OMIM:300718
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Lipoatrophy	ORPHA:154
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis	OMIM:620357
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hypertension, Diabetic ketoacidosis, Hepatic s...	OMIM:615238
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Impaired glucose tolerance, Atrioventricular block, Growth delay, Glucose intolerance, Joint cont...	OMIM:614407
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we...	ORPHA:171442
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ...	OMIM:615745
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss...	OMIM:613155
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type...	ORPHA:171433
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ...	OMIM:617228
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste...	OMIM:611126
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Myopathy, Arrhy...	ORPHA:157973
Maternally-Inherited Diabetes And Deafness	Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi...	ORPHA:225
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly	OMIM:607685
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Intrauterine growth retardation	OMIM:616647
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic st...	ORPHA:436182
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm...	ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Myopathy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Fail...	OMIM:618237
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Elevated...	OMIM:617253
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Splenomegaly, Hyperlipidemia, Increased muscle ...	ORPHA:565612
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos...	OMIM:608709
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypoplastic left heart, Bradycardia, Intrauterine growth retardation, ...	OMIM:616276
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia, Short stature, Hypoglycemia	ORPHA:366
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Hernia	ORPHA:93476
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy, Abnormality of the liver	ORPHA:391457
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Growth delay, Generalized ...	OMIM:613561
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart fa...	OMIM:235200
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Hypoglycemia,...	ORPHA:2394
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventri...	OMIM:252011
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Kearns-Sayre Syndrome	Diabetes mellitus, Short stature, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioven...	OMIM:530000
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Infantile Refsum Disease	Hepatomegaly, Very long chain fatty acid accumulation, Short stature, Facial palsy, Cardiomyopath...	ORPHA:772
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Abnormal atrioventri...	ORPHA:3208
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Obesity, Hypoplastic left heart...	OMIM:615996
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618235
Dk1-Cdg	Elevated hepatic transaminase, Short stature, Congestive heart failure, Dilated cardiomyopathy, C...	ORPHA:91131
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased adipose tissue, Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopa...	ORPHA:1349
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Dystonia 23	Arrhythmia, Torticollis	OMIM:614860
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a...	OMIM:612954
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci...	ORPHA:98907
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Bradycardia, Intraut...	OMIM:614702
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepa...	OMIM:232500
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial...	ORPHA:329336
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopat...	OMIM:249270
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Hypertrophic...	OMIM:246900
Mitochondrial Complex I Deficiency, Nuclear Type 22	Intrauterine growth retardation, Hypertrophic cardiomyopathy	OMIM:618243
Symmetrical Thalamic Calcifications	Arrhythmia, Failure to thrive	ORPHA:1314
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe...	OMIM:614300
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ...	ORPHA:66634
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Cardiomyopathy, ...	ORPHA:401768
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:608594
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Ketotic hypoglycemia, Pulmonic stenosis	ORPHA:79159
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca...	ORPHA:439232
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function	OMIM:616829
Combined Oxidative Phosphorylation Deficiency 20	Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Bardet-Biedl Syndrome 2	Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Atrial septal defect	OMIM:615981
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotr...	OMIM:278000
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, A...	OMIM:609286
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypoglycemia, Hepatic failure, Failure to thrive, Hepatic steatosis	OMIM:617872
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Hyperlipidemia, Hepatic calcification, Cardiomyopathy, A...	ORPHA:228308
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Heart Block, Congenital	Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros...	OMIM:234700
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri...	OMIM:269700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618229
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ...	ORPHA:66529
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia	ORPHA:99944
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes...	ORPHA:79085
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca...	ORPHA:330001
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, ...	ORPHA:465508
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A...	ORPHA:392
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ...	OMIM:615084
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Mitral valve prolapse, P...	ORPHA:228410
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu...	OMIM:615418
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial ta...	ORPHA:49827
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ...	OMIM:620135
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy	OMIM:616483
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopa...	ORPHA:159
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Conges...	ORPHA:367
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Short stature, Biliary tract abnormality, Obesity, Membranous subvalvular aortic...	ORPHA:3191
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Hyperlipidemia, Obesity, Mitral regurgitation, A...	ORPHA:254346
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis	OMIM:105120
Fetal Parvovirus Syndrome	Intrauterine growth retardation, Hypertrophic cardiomyopathy	ORPHA:295
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Hypoglycemia, Ankle flexion contracture, Rhabdomyolysis, Dilated cardiomyopathy	OMIM:618120
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618378
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Chronic active ...	OMIM:203800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle ...	ORPHA:369840
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Impaired glucose tolerance, Facial palsy, Limb muscle weakness, Le...	OMIM:610131
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies	OMIM:616549
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M...	ORPHA:254886
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ...	ORPHA:71
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure...	ORPHA:206569
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec...	ORPHA:57
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Partial Atrioventricular Septal Defect	Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio...	ORPHA:1330
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac...	OMIM:616866
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Cardiomyopathy, Decreased liver function, Int...	OMIM:618839
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Tendo...	ORPHA:412
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Growth delay, Myopathy, Pulmonary arterial hypertension, Hy...	OMIM:212350
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Facial hypotonia, First degree atrioventricular block, Obesity, Abnormal car...	ORPHA:589821
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Failure to th...	ORPHA:5
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O...	ORPHA:79102
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Sarcosinemia	Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy, Failure to thrive, Neonatal hypoglycemia	OMIM:619046
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Quadricep...	OMIM:300559
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati...	OMIM:264470
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia	OMIM:619814
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay, Atrial septal...	OMIM:620211
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ...	OMIM:608836
Neuraminidase Deficiency	Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly...	OMIM:256550
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Growt...	OMIM:261750
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Palpitation...	OMIM:619290
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre...	ORPHA:905
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Arrhythmia, Short stature, Camptodactyly of finger	ORPHA:2928
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Small for gestational age, Hypertension, Second degr...	OMIM:617021
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis	OMIM:618499
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension, Intrauterine growth retardation	OMIM:619003
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Short stature, Bacterial endocarditis, Premature ventricular contraction	ORPHA:1964
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi...	OMIM:212112
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Failure to th...	OMIM:618228
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic...	OMIM:251880
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Facial diplegia, Cholel...	OMIM:160900
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diabetes mellitus, Arrhythmia	ORPHA:96
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Short stature, Hepato...	OMIM:619013
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertensio...	OMIM:619487
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Dilated cardiomyop...	ORPHA:79230
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Short stature, Failure to thrive, Hepatic steatosis	ORPHA:300536
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:189427
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Skeletal muscle steatosis, Decreased liver function, Glycosuria, Diffuse hepatic st...	ORPHA:436271
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ingui...	OMIM:620326
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f...	ORPHA:352447
Nephronophthisis 16	Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic stenosi...	OMIM:615382
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Myocardial infarction, Mitral valve prolapse, Failure to thrive, Hepatic steatos...	OMIM:236200
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat...	OMIM:617713
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth...	OMIM:613027
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Cardiomyopathy, Myopathy, Decreased liver function, Hepatic steatosis	OMIM:614922
Autosomal Dominant Optic Atrophy Plus Syndrome	Cardiomyopathy, Limb-girdle muscle weakness, Diabetes mellitus, Myopathy	ORPHA:1215
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan...	ORPHA:26791
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Failure to thriv...	OMIM:619418
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Short stature, Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopat...	ORPHA:88630
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ...	OMIM:256810
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Growth delay, Cardiomyopathy, Hepatic steatosis, Neonatal hypoglyc...	ORPHA:445038
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol...	ORPHA:368
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J...	ORPHA:85443
Hemochromatosis, Type 3	Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis	OMIM:604250
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension	ORPHA:767
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Intrauterine growth...	OMIM:618835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Cardiomyopathy, Failure to thrive, Pancreatitis	ORPHA:79312
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase...	OMIM:261680
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea...	OMIM:618329
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Short statu...	ORPHA:2959
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulin...	ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Short stature, Shorte...	OMIM:614947
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:618241
Propionic Acidemia	Hepatomegaly, Short stature, Hypoglycemia, Cerebellar hemorrhage, Cardiomyopathy, Failure to thri...	OMIM:606054
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Hyperlipidemia, ...	ORPHA:444490
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Fasting hypoglycemia, Hep...	ORPHA:348
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Rhizomelia, Weight loss, Severe short-limb dwarfism, Hernia, Atrial septal defect, ...	ORPHA:1842
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Monosomy 13Q34	Epistaxis, Insulin resistance, Obesity, Hematochezia, Growth delay, Pulmonic stenosis, Common atr...	ORPHA:96168
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:300438
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hyperlipidemia, Rhabdomyolysis, Hepatic calcification, Cardiomyopathy, Myopathy, Ar...	ORPHA:157
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca...	ORPHA:79279
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Short stature, Left ventricular noncompaction cardiomyopathy, Hypoglycemia	OMIM:248360
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral val...	ORPHA:371428
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia	ORPHA:3386
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ...	ORPHA:365
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis	ORPHA:638
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ...	ORPHA:79303
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Short sta...	OMIM:616651
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Cardiomyopathy, Failure to thrive, Short stature, Intrauterine growth retardation	ORPHA:324525
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Generalized amyotrophy, Intrauterine growt...	OMIM:617710
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Pericardial effusion, Abnormal subcuta...	OMIM:212065
Cardiofaciocutaneous Syndrome 3	Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c...	OMIM:615279
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatic steatosis, Hepatomegaly, Hypoglyc...	ORPHA:17
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Andersen-Tawil Syndrome	Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t...	ORPHA:37553
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Rhabd...	OMIM:124000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Alg1-Cdg	Cardiomyopathy, Decreased liver function, Abnormal heart morphology	ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami...	OMIM:619573
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo...	ORPHA:521411
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Cardiomyopathy, Failure to thrive, Pancreatitis	OMIM:251000
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight ...	ORPHA:298
Noonan Syndrome 8	Failure to thrive, Ventricular septal defect, Short stature, Large for gestational age, Mitral re...	OMIM:615355
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Short stature, Overweight, Dilated cardiomyopathy, R...	ORPHA:401923
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect	ORPHA:40366
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy	OMIM:500007
Myotonic Dystrophy 2	Tachycardia, Premature ventricular contraction, Right bundle branch block, Insulin insensitivity,...	OMIM:602668
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Limb hypertonia	OMIM:615918
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Cardiac...	ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ...	OMIM:604377
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram...	OMIM:220110
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Hypoglycemia, Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis...	OMIM:616878
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Congestive heart failure, Flexion contracture, Growth delay, Intrauterine growth reta...	OMIM:616271
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti...	OMIM:602541
Hydrops Fetalis	Small for gestational age, Pericardial effusion, Capillary leak, Abnormal heart morphology, Arrhy...	ORPHA:1041
Adrenomyodystrophy	Myopathy, Failure to thrive, Short stature, Hepatic steatosis	ORPHA:977
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the...	ORPHA:2847
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100080
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e...	OMIM:618775
Cornelia De Lange Syndrome 2	Postnatal growth retardation, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Short...	OMIM:300590
Alg3-Cdg	Lipodystrophy, Macroglossia, Cardiomyopathy, Decreased liver function, Arthrogryposis multiplex c...	ORPHA:79321
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse	ORPHA:230839
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat...	OMIM:620300
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Elevated circulating globotria...	OMIM:301500
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Knee flexion contracture, Hepatosplenomegaly, Hepati...	ORPHA:79322
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Acute hepatic steatosis, Cholesterol galls...	ORPHA:209902
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ...	ORPHA:3099
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature, Failure to thrive	OMIM:201470
Familial Isolated Hypoparathyroidism	Myopathy, Arrhythmia, Short stature, Abnormal dental enamel morphology	ORPHA:2238
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy, Vaginal hernia	ORPHA:3173
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, S...	OMIM:615895
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:254913
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g...	OMIM:619259
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Short stature, Postnatal growth retardation, Hepat...	ORPHA:353298
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Palpitations, Weight loss	OMIM:188580
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf...	ORPHA:2088
Dominant Beta-Thalassemia	Diabetes mellitus, Failure to thrive in infancy, Hypoplasia of the musculature, Hepatocellular ca...	ORPHA:231226
Gm1-Gangliosidosis, Type I	Hepatomegaly, Inguinal hernia, Severe short stature, Abnormal heart valve morphology, Congestive ...	OMIM:230500
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Elevated ...	OMIM:300972
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Joubert Syndrome 32	Hypertrophic cardiomyopathy, Large for gestational age	OMIM:617757
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Postnatal growth retardation...	OMIM:616263
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Short stature, Abnormal p...	ORPHA:500
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Small for gestational age, Pancre...	ORPHA:699
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste...	OMIM:617156
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula...	ORPHA:97287
Refsum Disease	Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly	ORPHA:773
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Failure to thrive, Palpitations, Abnormal heart morphology	OMIM:618250
Autosomal Dominant Progressive External Ophthalmoplegia	Quadriceps muscle weakness, Ragged-red muscle fibers, Glucose intolerance, Abnormality of the liv...	ORPHA:254892
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy, Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Increased connective tissue, Flexion contrac...	ORPHA:258
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Noonan Syndrome 5	Short stature, Large for gestational age, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hy...	OMIM:611553
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100082
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, ...	OMIM:618641
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Small for gestational age, Left ventricular noncompaction cardiomyop...	OMIM:620167
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Macroglossia, Macroves...	OMIM:617303
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Failure to thri...	OMIM:610768
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis	ORPHA:210548
Gracile Syndrome	Cholestasis, Cirrhosis, Elevated hepatic iron concentration, Intrauterine growth retardation, Hep...	ORPHA:53693
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Congenital Macroglossia	Macroglossia, Abnormal hepatic glycogen storage	ORPHA:2430
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Short stature, Epistaxis, Hypoglycemia, Hepatocellular carcin...	ORPHA:79259
Rotor Syndrome	Jaundice, Storage in hepatocytes, Intermittent jaundice	ORPHA:3111
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Pancreatitis, Hepatomegaly	ORPHA:27
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Weight loss, Hypotension, Arrhythmia, Pancreatitis	ORPHA:188
Melas	Wolff-Parkinson-White syndrome, Diabetes mellitus, Short stature, Cardiac conduction abnormality,...	ORPHA:550
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Beta-Thalassemia Major	Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hypoplasia of the musculature, Hep...	ORPHA:231214
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Myositis, Abnormality of ...	ORPHA:99845
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Growth delay, Cardiomyopathy, Abnormality of the liver, Muscular d...	ORPHA:88618
Atypical Werner Syndrome	Skeletal muscle atrophy, Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Short statur...	ORPHA:79474
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus...	OMIM:619705
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Ventricular septal defect, Short stature, Impaired glucose t...	ORPHA:769
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci...	ORPHA:101330
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Cardiomegaly, Congestive heart fa...	ORPHA:14
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A...	ORPHA:93317
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Hyperlipidemi...	ORPHA:391665
8P23.1 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Obesity, Weight loss, Growth delay, Hypertrophic ...	ORPHA:251071
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy	OMIM:617183
Gm1 Gangliosidosis	Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Short stature, Congestive he...	ORPHA:354
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Inguinal hernia, Abnormal atrioventricular valve physiolog...	ORPHA:576
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomyopath...	OMIM:619313
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Diabetes mellitus, Congestive heart failure	OMIM:229300
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia	ORPHA:99745
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy	ORPHA:848
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Short stature, Hypoglycemia, ...	OMIM:232200
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Hyperlipidemia, ...	ORPHA:247585
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai...	OMIM:300952
Chanarin-Dorfman Syndrome	Myopathy, Hepatic steatosis, Hepatomegaly	OMIM:275630
Leopard Syndrome 2	Hypertrophic cardiomyopathy, Short stature	OMIM:611554
Singleton-Merten Syndrome 2	Aortic valve calcification, Arrhythmia, Aortic valve stenosis, Short stature	OMIM:616298
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr...	ORPHA:185
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop...	ORPHA:682
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis	ORPHA:2701
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,...	OMIM:619127
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Ogden Syndrome	Torticollis, Inguinal hernia, Ventricular septal defect, Postnatal growth retardation, Cardiogeni...	ORPHA:276432
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly...	ORPHA:158687
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal heart mor...	ORPHA:1666
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Hypercholest...	ORPHA:275761
Legionnaires Disease	Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Hypotension, Cellulit...	ORPHA:549
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Skeletal muscle atrophy, Small for gestational age, Type 2 muscle ...	OMIM:615471
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Short stature, Obesity, Subvalvular aortic stenosis	OMIM:600430
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Hypoglycemia, Acute rhabdomyo...	ORPHA:480864
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Growth delay, Arrhythmia, Cardiac arrest	ORPHA:168593
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul...	OMIM:605814
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Hepatitis, Weight loss...	OMIM:615846
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Growth delay, ...	ORPHA:541423
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction	OMIM:618098
Hyperglycinemia, Lactic Acidosis, And Seizures	Growth delay, Hypertrophic cardiomyopathy, Joint contracture	OMIM:614462
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Nodular regenerative hyperplasia of liver, Raynaud phenomenon, Punct...	ORPHA:247691
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Flexion contrac...	OMIM:607014
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Weight...	OMIM:164310
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short stature, Perimembranous ventricular septal defect, Transposition of the great arteries, Pul...	OMIM:617877
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Short st...	ORPHA:93473
Congenital Sialidosis Type 2	Abnormal EKG, Inguinal hernia, Hepatomegaly, Abnormal heart morphology, Telangiectasia, Hepatospl...	ORPHA:93400
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,...	ORPHA:100078
Scorpion Envenomation	Bundle branch block, Tachycardia, Acute pancreatitis, Elevated circulating aspartate aminotransfe...	ORPHA:466677
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy	ORPHA:544469
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Vasculitis, Cardiomyopa...	OMIM:225750
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Cardiomegaly	OMIM:618838
Thrombotic Thrombocytopenic Purpura	Arrhythmia, Myocardial infarction	ORPHA:54057
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia, Short stature, Camptodactyly of finger	ORPHA:3201
Wolfram Syndrome 1	Growth delay, Cardiomyopathy, Diabetes mellitus	OMIM:222300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro...	OMIM:605676
Isolated Complex I Deficiency	Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth retardation, Hypertrophic card...	ORPHA:2609
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Small for gestational age, Growth delay, Hypertension, Arrhythmia, Umbilical her...	OMIM:614052
Congenital Enterovirus Infection	Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Cardiomyopathy, Hypotension, Hepatic f...	ORPHA:292
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Lower limb amyotrophy, Delayed puberty	ORPHA:496790
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ragged-red muscle fi...	OMIM:614924
Leopard Syndrome 1	Bundle branch block, Scapular winging, Short stature, Delayed menarche, Complete atrioventricular...	OMIM:151100
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Diastasis recti, Short statu...	OMIM:253220
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di...	ORPHA:363623
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis	OMIM:231680
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Ketotic hypoglycemia, Hypoglycemic seizures, Weight loss, H...	ORPHA:361
Costello Syndrome	Ventricular septal defect, Abnormal dental enamel morphology, Short stature, Failure to thrive in...	ORPHA:3071
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachycardia, Heart block, Capillary leak, Reduced left ventricular...	ORPHA:542323
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Hypoglycemia	OMIM:210200
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Short stature, Splenomegaly, Flexion cont...	OMIM:253200
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc...	OMIM:619991
Pituitary Gigantism	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Type II diabetes mellitus	ORPHA:99725
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Umbilical hernia, Hypertrophic cardiomyopathy, Failure to thrive, Intr...	OMIM:612938
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Combined Oxidative Phosphorylation Deficiency 5	Growth delay, Hypertrophic cardiomyopathy	OMIM:611719
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Leprechaunism	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hepatomegaly, Postnatal growth reta...	ORPHA:508
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Ventricular septal defect, Cardiomegaly, Flexion contracture, Intraute...	OMIM:616897
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly	ORPHA:391428
Noonan Syndrome 6	Growth delay, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis	OMIM:613224
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Short stature, Small for gesta...	OMIM:613658
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia	OMIM:618810
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Mucopolysaccharidosis Type 3	Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular ...	ORPHA:581
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, ...	OMIM:276700
Noonan Syndrome 7	Short stature, Large for gestational age, Growth delay, Pulmonic stenosis, Atrial septal defect, ...	OMIM:613706
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, Bacterial endocarditis,...	ORPHA:97214
Microcephaly 13, Primary, Autosomal Recessive	Small for gestational age, Restrictive cardiomyopathy, Short stature, Intrauterine growth retarda...	OMIM:616051
Primary Hyperoxaluria	Elevated hepatic transaminase, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopath...	ORPHA:416
Meier-Gorlin Syndrome 7	Ventricular septal defect, Short stature, Heart block, Complete atrioventricular canal defect, Gr...	OMIM:617063
Bloom Syndrome	Hepatic steatosis, Small for gestational age, Postnatal growth retardation, Growth delay, Type II...	OMIM:210900
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Jaundice,...	OMIM:229600
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Short stature, Cardiomyopathy, Hypertrophic cardiomyo...	OMIM:605275
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa...	OMIM:208000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Leptospirosis	Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Rhabdomyolysis, Retina...	ORPHA:509
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Bicuspid aortic valve, Mitral atresia, Small for gestational age, Increased hepa...	OMIM:220111
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Leber Optic Atrophy	Myopathy, Arrhythmia	OMIM:535000
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa...	ORPHA:881
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Atrial septal defect, Intrauterine growth retardation, Arrhythmia, ...	OMIM:619184
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Flexion contracture, Loss of facial a...	OMIM:256040
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Generalized amyotrophy, Intrauterine growth retardation, Neonatal hypoglycemia, L...	ORPHA:572798
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Syncop...	ORPHA:230
Mucopolysaccharidosis Type 1	Inguinal hernia, Abnormal heart valve morphology, Short stature, Congestive heart failure, Spleno...	ORPHA:579
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture	OMIM:619383
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta...	OMIM:607426
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, F...	ORPHA:247598
Martsolf Syndrome 1	Inguinal hernia, Short stature, Cardiac arrest, Congestive heart failure, Cardiomyopathy	OMIM:212720
Vici Syndrome	Cardiomyopathy, Short stature	ORPHA:1493
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac...	OMIM:261515
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Agel Amyloidosis	Facial palsy, Cardiomyopathy, Abnormal spleen morphology, Arrhythmia, Orthostatic hypotension due...	ORPHA:85448
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Diabetes mellitus, Short stature, Abnormal dental enamel morphology, Camptodactyly of finger, Arr...	ORPHA:3220
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Cerebral ischemia, Arrhyt...	ORPHA:397
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Junc...	OMIM:309801
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Peritonitis, Vasc...	ORPHA:727
Mucopolysaccharidosis Type 2	Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo...	ORPHA:580
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy, Growth delay	OMIM:619121
Aromatase Deficiency	Eunuchoid habitus, Hyperlipidemia, Insulin resistance, Obesity, Growth delay, Type II diabetes me...	ORPHA:91
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy, Diabetes mellitus	ORPHA:95
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist...	ORPHA:70591
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Secundum atrial septal defe...	OMIM:609069
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Glucose intolerance, Cirrhosis, Glycosuria, Hypertrophic cardiomyopathy, Failure to thrive, Exocr...	OMIM:616539
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Congestive heart f...	OMIM:617403
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Failure to thrive, Cerebral ischemia	ORPHA:60040
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Inguinal hernia, Omphalocele, Ventricular septal defe...	ORPHA:373
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Elevated...	OMIM:619525
Pagod Syndrome	Omphalocele, Short stature, Congenital diaphragmatic hernia, Sudden cardiac death, Situs inversus...	ORPHA:991
Mucopolysaccharidosis Type 2, Severe Form	Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodact...	ORPHA:217085
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Ulnar-Mammary Syndrome	Ventricular septal defect, Camptodactyly of finger, Short stature, Aplasia of the pectoralis majo...	ORPHA:3138
Wolfram Syndrome	Gastrointestinal hemorrhage, Diabetes mellitus, Abnormal mesentery morphology, Cardiomyopathy, My...	ORPHA:3463
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, C...	OMIM:130650
Noonan Syndrome 4	Ventricular septal defect, Short stature, Large for gestational age, Pulmonic stenosis, Atrial se...	OMIM:610733
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia, Fa...	ORPHA:2131
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea...	ORPHA:505248
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Arterial Tortuosity Syndrome	Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Femoral herni...	ORPHA:3342
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Splenomegaly, Ragged-red muscle fibers, Conc...	OMIM:252010
Mucopolysaccharidosis Type 2, Attenuated Form	Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodact...	ORPHA:217093
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Facial hypotonia, Small for ...	ORPHA:404454
Acromesomelic Dysplasia 4	Rhizomelia, Short stature, Disproportionate short stature, Third degree atrioventricular block, U...	OMIM:619636
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Abnormal odontoid tissue morphology, Intrauteri...	ORPHA:79255
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H...	ORPHA:255210
Hereditary Spherocytosis	Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Restrictive cardiomyopathy, Cholelithiasis	ORPHA:822
1P36 Deletion Syndrome	Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Short stature, Abnor...	ORPHA:1606
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Growth delay, Hypertension,...	OMIM:270400
Usher Syndrome	Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Abnormal dental...	ORPHA:886
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr...	OMIM:619377
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Raynaud phenomenon, Vasculitis, Flexion contracture, Myopathy...	ORPHA:90289
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Noonan Syndrome 10	Ventricular septal defect, Short stature, Mitral valve prolapse, Hypertrophic cardiomyopathy, Mit...	OMIM:616564
Cimdag Syndrome	Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly	OMIM:619273
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hypoglycemia, He...	OMIM:232220
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Hypoglycemia, Co...	ORPHA:506
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Cartilage-Hair Hypoplasia	Hepatomegaly, Rhizomelia, Heart block, Abnormality of the pancreas, Aplasia/Hypoplasia of the abd...	ORPHA:175
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Weight ...	ORPHA:221
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Short stature, Mitral valve prolapse, Pulmonic stenosis, ...	OMIM:619745
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Short stature, Limb-girdle muscular dystrophy, Intra...	OMIM:615356
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Abnormal cardiac septum morphology, Hernia	OMIM:217980
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Obesity, Macroglossia, Hernia, A...	ORPHA:261494
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
16P11.2P12.2 Microdeletion Syndrome	Tricuspid regurgitation, Short stature, Camptodactyly of finger, Intrauterine growth retardation,...	ORPHA:261211
Hyperoxaluria, Primary, Type I	Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication	OMIM:259900
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Diastasis recti, Cardiomegaly, Congestive he...	OMIM:252500
Vici Syndrome	Failure to thrive, Postnatal growth retardation, Congestive heart failure, Dilated cardiomyopathy...	OMIM:242840
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Congestive heart failure, Myocarditis, Vasculitis,...	ORPHA:2331
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocell...	OMIM:618278
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, ...	ORPHA:3455
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Congestive heart failure, R...	ORPHA:508542
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Growth delay, Cardiomyopathy, Splenomegaly	OMIM:616084
Arima Syndrome	Hepatomegaly, Growth delay, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Myocarditis, Congestive heart failure, Jaundice, Spleno...	ORPHA:3385
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid...	OMIM:601992
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Ventricular septal defect, Bicu...	OMIM:619475
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Hypertrophic cardiomy...	OMIM:613673
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep...	ORPHA:73224
Hermansky-Pudlak Syndrome 1	Hematochezia, Cardiomyopathy, Epistaxis	OMIM:203300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Flexi...	OMIM:300868
Mgat2-Cdg	Ventricular septal defect, Abnormal heart morphology, Reflex asystolic syncope, Arrhythmia, Failu...	ORPHA:79329
Cantú Syndrome	Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Hennekam-Beemer Syndrome	Short stature, Telangiectasia of the skin, Camptodactyly of finger, Hypotension, Arrhythmia, Fail...	ORPHA:2135
Toriello-Carey Syndrome	Short stature, Postnatal growth retardation, Cardiomyopathy, Abnormal cardiac septum morphology, ...	ORPHA:3338
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Short stature,...	ORPHA:51
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Hepatic steatosis, Foot...	OMIM:619503
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Mild postnatal growth retar...	ORPHA:90324
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Large for gestational age	OMIM:615398
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Spider hemangioma, Chronic pancreatitis, Hepatocellular carcinoma, Hy...	OMIM:232240
Lymphedema-Distichiasis Syndrome	Arrhythmia, Tetralogy of Fallot, Ventricular septal defect, Cellulitis	OMIM:153400
Holoprosencephaly	Omphalocele, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, C...	ORPHA:2162
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Short stature, Large for gestat...	OMIM:607721
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Epistaxis, Weight loss, Cardiomyo...	ORPHA:79430
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Severe short stature, Abnormal dental enamel morphology, Congenital diap...	ORPHA:2556
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Absence of subcutaneous fat, Cardiomyopat...	ORPHA:33364
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia	ORPHA:139411
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bra...	ORPHA:94093
Costello Syndrome	Ventricular septal defect, Short stature, Rhabdomyosarcoma, Hypoglycemia, Achilles tendon contrac...	OMIM:218040
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertensi...	ORPHA:48435
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Diastasis recti, Rhabdomyosarcoma, Cong...	ORPHA:116
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A...	ORPHA:93111
Noonan Syndrome	Hepatomegaly, Short stature, Abnormal pulmonary valve morphology, Abnormality of the spleen, Apla...	ORPHA:648
Oculodentodigital Dysplasia	Ventricular septal defect, Abnormal dental enamel morphology, Camptodactyly of finger, Hypoglycem...	ORPHA:2710
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou...	ORPHA:1328
Noonan Syndrome 3	Ventricular septal defect, Short stature, Mitral valve prolapse, Pulmonic stenosis, Tricuspid val...	OMIM:609942
Botulism	Arrhythmia	ORPHA:1267
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia, Enthesitis	OMIM:106300
Castleman Disease	Restrictive cardiomyopathy, Jaundice, Weight loss	ORPHA:160
Foodborne Botulism	Arrhythmia	ORPHA:228371
Lymphedema-Distichiasis Syndrome	Arrhythmia, Diabetes mellitus	ORPHA:33001
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Arrhythmia, Short stature	OMIM:171480
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Myocardial infarction, Splenomegaly, Peritonitis, Vasculitis...	ORPHA:342
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Severe short stature, Small for gestational ag...	OMIM:133540
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Inguinal hernia, Short stature, Shoulder flexion contra...	ORPHA:800
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Short stature, Splenomegaly, ...	OMIM:216400
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Alström Syndrome	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Short stature, Portal hypertension, Insulin re...	ORPHA:64
Cardiofaciocutaneous Syndrome	Short stature, Abnormal heart valve morphology, Failure to thrive in infancy, Pulmonic stenosis, ...	ORPHA:1340
Intellectual Developmental Disorder, Autosomal Dominant 68	Intrauterine growth retardation, Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Ivic Syndrome	Arrhythmia, Severe short stature	ORPHA:2307
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia, Rhabdomyosarcoma	ORPHA:2874
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Obesity, Abnormal heart morphology, Atrial septal defect, Restrictive cardi...	ORPHA:369837
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,...	ORPHA:363958
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Splenomegaly, Arthrogryposis multiplex congenita, Arrhythmia, Hepatomegaly	ORPHA:163746
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Flexion contracture, Abdominal obesity, Intrauterine growth retardation, Hepatic s...	OMIM:619321
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Ventricular septal defect, Short stature, Cholelithiasis, Spleno...	OMIM:188400
Zimmermann-Laband Syndrome 1	Splenomegaly, Cardiomyopathy, Umbilical hernia, Hepatomegaly	OMIM:135500
Oculodentodigital Dysplasia	Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger, Enamel hypoplasia	OMIM:164200
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Facial hypotonia, Congenital diaphragma...	OMIM:312870
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Arrhythmia, Tetra...	ORPHA:1519
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Oculoectodermal Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Growth delay, Transient ischemic attack	OMIM:600268
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger...	ORPHA:96334
Fanconi Anemia	Short stature, Weight loss, Growth delay, Abnormality of the liver, Abnormal cardiac septum morph...	ORPHA:84
Yunis-Varon Syndrome	Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, Renovascula...	ORPHA:3472
Spondylometaphyseal Dysplasia, Sedaghatian Type	Rhizomelia, Myocarditis, Disproportionate short stature, Atrial septal defect, Arrhythmia	OMIM:250220
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Arrhythmia, Facial palsy	ORPHA:68
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort...	ORPHA:904
Sarcoidosis	Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Scarring,...	ORPHA:797
Stickler Syndrome	Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Cachexia, Mitral valve...	ORPHA:828
Wiskott-Aldrich Syndrome	Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In...	ORPHA:906
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Short stature, Abnormal heart morphology, Mitral valve prolapse, Mitra...	ORPHA:363700
Plague	Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia	ORPHA:707
Acromegaly	Diabetes mellitus, Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:963
Somatomammotropinoma	Diabetes mellitus, Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy	ORPHA:314769
Ulnar-Mammary Syndrome	Inguinal hernia, Ventricular septal defect, Elbow flexion contracture, Obesity, Delayed puberty, ...	OMIM:181450
Noonan Syndrome 1	Short stature, Ventricular septal defect, Failure to thrive in infancy, Postnatal growth retardat...	OMIM:163950
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Short stature, Rhabdomyosarcoma, Renovascular hypertension, Abnormal ...	ORPHA:97685
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Genital hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Cystocele,...	ORPHA:285
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Lipody...	ORPHA:79318
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Short stature, Cyst of the ductus choledochus, Cardiomyopathy, Delayed puberty, Atrial septal defect	ORPHA:480880
Yunis-Varon Syndrome	Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Heart murmur,...	OMIM:216340
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Rhizomelia, Congenital diaphragmatic her...	OMIM:601803

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 Hadhb

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 Hadhb.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hadhb^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hadhb^em1(IMPC)Bay	Exon Deletion	Mice
Hadhb^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Hadhb MGI:2136381

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

MicroCT E18.5

Eye Morphology

Eye Morphology

Human diseases caused by Hadhb mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data