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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	System	Allele	Zyg	Sex	Life Stage	P Value
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	5.73×10^-05

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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 eye

16 Images

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MicroCT E18.5

Embryo reconstruction

7 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of right eye

16 Images

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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 (963 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		Congestive heart failure, Hypoketotic hypoglycemia, Cardiomyopathy, Cholestasis, Tricuspid regurg...	ORPHA:746
Mitochondrial Trifunctional Protein Deficiency 2		Hypotension, Tricuspid regurgitation, Elevated circulating alanine aminotransferase concentration...	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	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi...	OMIM:181350
Progressive Familial Heart Block, Type Ia	Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas...	OMIM:113900
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hy...	OMIM:615395
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Hip flexor weakness, Distal lower limb muscle weakness, Cardiomyopathy, Intrinsic hand muscle atr...	ORPHA:63273
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert...	OMIM:611705
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy	OMIM:616500
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Left ventricular hypertrophy, Secundum atrial septal defect, Tetralogy of Fa...	OMIM:108900
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Atrial Standstill	Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu...	ORPHA:1344
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor...	ORPHA:602
Cardiac Conduction Defect	Syncope, Arrhythmia	OMIM:115080
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Elevated circulatin...	OMIM:619048
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Distal lower limb muscle weakness, Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffn...	ORPHA:320360
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h...	ORPHA:98912
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr...	ORPHA:542306
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle...	OMIM:310300
Muscular Dystrophy, Becker Type	Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly, Cardiomyopathy	OMIM:609016
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, E...	OMIM:608099
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Distal Nebulin Myopathy	Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Weakness of the intrinsi...	ORPHA:399103
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Myopathy, Distal, 4	Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di...	OMIM:614065
Cardiomyopathy, Familial Hypertrophic, 15	Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Endocardial fibrosis, ...	OMIM:613255
Cardiomyopathy, Dilated, 1M	Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac...	OMIM:607482
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia	OMIM:610021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 28	Systolic anterior motion of the mitral valve, Left atrial enlargement, Reduced left ventricular e...	OMIM:619402
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca...	ORPHA:263297
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Cardiomyopathy, Failure to thrive, Intrauterine growth retardation, Hepatic...	ORPHA:26792
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Congestive heart failure, Hypertension, Obesity, Insulin resistance, Type I...	OMIM:615703
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic...	OMIM:601419
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Skeletal muscle hypertrophy, Hypertension, Lipodystrophy, Insu...	OMIM:613877
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap...	OMIM:301075
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Cardiomyopathy, Dilated, 2A	Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula...	OMIM:611880
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Left atrial enlargement, Cardiomyopathy, Decreased muscle glycogen ...	OMIM:611556
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Cardiomyopathy, Impaired glucose tolerance, Diabetes mellitus, Arrhythmi...	OMIM:606069
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left...	OMIM:620236
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Hypertension, Hyperlipidemia, Insulin resistance, Skeletal muscle atrophy, Li...	OMIM:615980
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph...	OMIM:115197
Cardiomyopathy, Dilated, 1L	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:606685
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bra...	OMIM:212138
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, My...	OMIM:300257
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Wolff-Parkinson-White syndrome, Macrovesicular hepatic steatosis, Hepat...	OMIM:618234
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Ventric...	OMIM:232400
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98855
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
3-Methylglutaconic Aciduria, Type V	Postnatal growth retardation, Congestive heart failure, Atrial septal defect, Prolonged QT interv...	OMIM:610198
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W...	OMIM:619566
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp...	OMIM:300696
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa...	OMIM:600334
Nathalie Syndrome	Short stature, Arrhythmia	ORPHA:2663
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame...	OMIM:612999
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper...	OMIM:115210
Congenital Myopathy 24	Facial palsy, Cardiomyopathy, Scapular winging, Nemaline bodies, First degree atrioventricular bl...	OMIM:617336
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar...	OMIM:619897
Cardiomyopathy, Dilated, 1Dd	Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98853
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy	OMIM:609500
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Impaired gluconeogenesis, Reduced muscle carnitine level,...	OMIM:212140
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b...	OMIM:609200
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Muscle fiber hyaline bodies, Fourth heart sound, Biventricular hypertro...	OMIM:255160
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Weight loss, Arrhythmia, Atrioventricular block	ORPHA:85447
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Abnormalit...	ORPHA:79083
Cardiomyopathy, Dilated, 1W	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:613122
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Cardiomyopathy, Dilated, 1J	Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card...	OMIM:605362
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Familial Isolated Dilated Cardiomyopathy	Lipoatrophy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated...	ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Desminopathy	Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat...	ORPHA:98909
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613286
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Hypertension, Insulin resistance, Diab...	ORPHA:79084
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98863
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Congestive heart failure, Lipoatrophy, Hepatomegaly, Pancreatitis, Abnormal...	ORPHA:2348
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ...	OMIM:613642
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema...	OMIM:620247
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Cardiomyopathy, Dilated, 1Ee	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613252
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Muscular dystrophy, Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, S...	ORPHA:300751
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ...	ORPHA:98911
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ...	ORPHA:206549
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Propionic Acidemia	Hypoglycemia, Hepatomegaly, Cardiomyopathy, Arrhythmia	ORPHA:35
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia...	ORPHA:293964
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Hyperinsulinemia, Skelet...	ORPHA:528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea...	ORPHA:276580
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou...	OMIM:604367
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle...	OMIM:608807
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
Nathalie Syndrome	Growth delay, Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus...	OMIM:611615
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia	ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Gitelman Syndrome	Delayed puberty, Neoplasm of the pancreas, Prolonged QT interval, Prominent U wave, Type I diabet...	ORPHA:358
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	ORPHA:228305
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Supraventricular tachycardia, Cardiomyopathy, Myopathy	OMIM:255100
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Arrhythmia, Intrauterin...	OMIM:616198
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:600649
Glycogen Storage Disease Vi	Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic tr...	OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Short stature, Reduced subcutaneou...	OMIM:612526
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemic hypoglycemia, Di...	ORPHA:276556
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v...	ORPHA:399058
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Increased variabilit...	OMIM:613752
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,...	OMIM:604286
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea...	ORPHA:276575
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopa...	OMIM:609308
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, Growth delay, Hepat...	OMIM:231530
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Dilated, 1Jj	Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:615235
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Large for gestational age, Maternal d...	ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol...	OMIM:614676
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short stature, Camptodactyly, Arrhythmia	OMIM:618453
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Prolonged QT interval, Elevated circulating hepatic transaminase ...	ORPHA:26793
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ...	OMIM:618805
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul...	ORPHA:206559
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hyperinsulinemia, Abnormal cardiovascular system p...	ORPHA:79086
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Lipoatrophy, Splenomegaly, Proximal upper limb muscle hypertrophy, Hepatic ...	ORPHA:280365
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Distal lower limb muscle weakness, Inguinal hernia, Thenar muscle atrophy, Fiber type grouping, I...	OMIM:619903
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen...	OMIM:616812
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ...	ORPHA:156
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hyperinsulinemia, Generalized lipodystrophy, Hyper...	ORPHA:363400
Dietary Iron Overload Disease	Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H...	ORPHA:139507
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy	ORPHA:217622
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Calf muscle hypertrophy, Reduced systolic function, Skeletal muscle atrophy, ...	OMIM:616827
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Cardiomyopathy	OMIM:619651
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Shor...	OMIM:614480
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 18	Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricula...	OMIM:613874
Myopathy, Distal, 1	Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an...	OMIM:160500
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc...	OMIM:608358
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Increased intramuscular fat, Hepatomegaly, Hyperinsulinemia, Loss of trunca...	OMIM:151660
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Distal amyotrophy, Elevated circulating hepatic transaminase concentration, Fo...	OMIM:618400
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to t...	OMIM:615440
Endocardial Fibroelastosis	Congestive heart failure, Hypoglycemia, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra...	ORPHA:71212
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, Elevated circulating hepatic transaminase concen...	ORPHA:99901
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Congestive heart failure, Generalized limb muscle atrophy, Hepatomegaly, El...	ORPHA:98908
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Periportal fibrosis, Hypertrophic cardi...	OMIM:201475
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Biventricular hypertrophy, Neonatal hypoglycemia, Bradycardia, ST segme...	OMIM:261740
Hyperinsulinism Due To Hnf1A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset ...	ORPHA:324575
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Global systolic dysfunction, Cardiomyopathy, Nemaline bodies, Limb muscle weakness	OMIM:606842
Myopathy, Distal, Tateyama Type	Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce...	OMIM:614321
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ...	ORPHA:206546
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Facial palsy, Decreased body weight, Short stature, Type 1 fibers rela...	OMIM:300580
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hepatic s...	OMIM:614921
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS ...	ORPHA:75565
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, D...	OMIM:616201
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo...	OMIM:619386
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Muscular dystrophy, Hepatomegaly, Prolonged QT interval, Elevated circulati...	OMIM:613327
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Failure to thrive, Hypoglycemia, Cardiomyopathy	ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dila...	OMIM:602390
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa...	ORPHA:1345
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Joint contracture, Splenomegaly, Flexion contracture, Intrauterine ...	OMIM:608540
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated circulating hepatic transaminase concentration, Rimmed vacuoles, Increased variability i...	OMIM:612937
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a...	ORPHA:34515
Childhood-Onset Nemaline Myopathy	Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: myopathic abnormalities,...	ORPHA:171439
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Glycogen Storage Disease Due To Lamp-2 Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:34587
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,...	OMIM:540000
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert...	OMIM:601005
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Decreased body weight, Short stature, Reduced subcutaneous adipose tissue, Intrauterine growth re...	OMIM:618097
Dpm3-Cdg	Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Calf muscle hypertro...	ORPHA:263494
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Hypertrophic cardiomyopathy, Elevated circulating alanine ami...	OMIM:614582
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Hepatomegaly, Loss of gluteal subc...	ORPHA:435660
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thriv...	ORPHA:70472
Neonatal Lupus Erythematosus	Heart block, Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Hepa...	ORPHA:398124
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Hypertrophic car...	OMIM:619424
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Cardiomyopathy, Limb-girdle muscle...	ORPHA:86812
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Limb-girdle muscle w...	OMIM:615352
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Loss...	OMIM:615381
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Muscular dystrophy, Elbow flexion contracture, Generalized amyotrophy, Join...	OMIM:616516
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop...	OMIM:608810
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy	ORPHA:480
Patent Ductus Venosus	Decreased liver function, Persistent patent ductus venosus, Congenital portosystemic venous shunt...	OMIM:601466
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Failure to thrive, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Myofib...	OMIM:609452
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Facial diplegia, Abnormality of the tong...	ORPHA:273
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure	OMIM:261650
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Rimmed vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Short st...	ORPHA:52430
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Hepatic steatosis, Myopathy	ORPHA:79087
Adult-Onset Nemaline Myopathy	Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn...	ORPHA:171442
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Cardiomyopathy, Familial Hypertrophic, 2	Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri...	OMIM:115195
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Postnatal growth retardation, Hepatomegaly, Atrial fibrillation, Suprave...	ORPHA:75249
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Elevated circulating hepatic trans...	ORPHA:264580
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	OMIM:255120
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:613313
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:613873
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe...	OMIM:300718
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Hypoketotic hypoglycemia, Cardiomyopathy, Cholestasis, Tricuspid regurg...	ORPHA:746
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Myopathy, Arrhythmia	ORPHA:104
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra...	ORPHA:1677
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Diarrhea 13	Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration, Re...	OMIM:620357
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intrauterine growth retardation, Obesity, Hypertrophic cardiomyopathy	OMIM:620270
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Joint contracture of the 5th finger, Impaired glucose tolerance, Growth delay, Failu...	OMIM:614407
Atrial Standstill 2	Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, A...	OMIM:615745
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Failure to thrive, I...	OMIM:617228
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Hepatomegaly, Hypertension, Lipodystrophy, Diabetic ketoacidosis, Hepatic s...	OMIM:615238
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win...	OMIM:613507
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Congestive heart failure, Calf muscle pseudohypertrophy, Calf muscle hypertro...	OMIM:310200
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ...	OMIM:612422
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Elevated circulating hepatic transaminase concentration, Microvesicular...	OMIM:611126
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Developmental And Epileptic Encephalopathy 35	Intrauterine growth retardation, Cardiomyopathy	OMIM:616647
Coronary Arterial Fistula	Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,...	ORPHA:2041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Cardiomyopathy, Flexion contracture, M...	OMIM:613155
Glycogen Storage Disease Iv	Cirrhosis, Bradycardia, Cardiomyopathy, Portal hypertension, Failure to thrive, Hepatosplenomegal...	OMIM:232500
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Cachexia, Flexion contracture, Skeletal muscle atrophy, Arrhythmia, Myo...	ORPHA:157973
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Failure to thrive, Flexion contracture, Intrauterine growth retardat...	OMIM:618237
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Sk...	ORPHA:435651
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles...	ORPHA:565612
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly	OMIM:607685
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Severe short-limb d...	ORPHA:436182
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia, Myopathy, Short stature	ORPHA:366
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Short stature, Splenomegaly, Hernia	ORPHA:93476
Coenzyme Q10 Deficiency, Primary, 7	Bradycardia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal def...	OMIM:616276
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m...	ORPHA:860
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmo...	OMIM:619433
Seckel Syndrome 10	Hypertriglyceridemia, Congestive heart failure, Hypertension, Ventricular hypertrophy, Acute panc...	OMIM:617253
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of truncal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue from upper limbs...	OMIM:608709
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Hsd10 Disease, Neonatal Type	Abnormality of the liver, Hypertrophic cardiomyopathy	ORPHA:391457
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive...	ORPHA:308552
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ragged-red muscle fibers, ...	OMIM:613561
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal cardiac ventricul...	ORPHA:2394
Myopathy, Myofibrillar, 6	Muscular dystrophy, Restrictive cardiomyopathy, Facial palsy, Scapular winging, EMG: myopathic ab...	OMIM:612954
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Sh...	OMIM:252011
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl...	ORPHA:57777
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro...	OMIM:610717
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog...	OMIM:617912
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa...	ORPHA:732
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Hypertension, Increased adipose tissue, Hyper...	ORPHA:1349
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Infantile Refsum Disease	Hepatomegaly, Cardiomyopathy, Facial palsy, Short stature, Failure to thrive, Arrhythmia, Very lo...	ORPHA:772
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab...	ORPHA:1055
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Distal amyotrophy, Hypertroph...	ORPHA:3208
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Kearns-Sayre Syndrome	Ragged-red muscle fibers, Cardiomyopathy, Short stature, Arrhythmia, Diabetes mellitus, Third deg...	OMIM:530000
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus	OMIM:520000
Bardet-Biedl Syndrome 19	Partial atrioventricular canal defect, Obesity, Atrial septal defect, Ventricular septal defect, ...	OMIM:615996
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Dk1-Cdg	Congestive heart failure, Elevated circulating hepatic transaminase concentration, Short stature,...	ORPHA:91131
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Dystonia 23	Torticollis, Arrhythmia	OMIM:614860
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Bradycardia, Cardiac arrest, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618235
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Cardiomyopathy, Short stature, Diabetes mellitus, Arrhythmia, Atrial sept...	OMIM:249270
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Elevated circulating hepatic transaminase concentration, Hypoketotic hy...	OMIM:609015
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Failur...	OMIM:614702
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Cardiomyopathy, Limb muscle weakness, Skeletal muscle atrop...	ORPHA:329336
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Muscle...	ORPHA:369840
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Mitochondrial Complex I Deficiency, Nuclear Type 22	Intrauterine growth retardation, Hypertrophic cardiomyopathy	OMIM:618243
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Card...	ORPHA:98907
Symmetrical Thalamic Calcifications	Failure to thrive, Arrhythmia	ORPHA:1314
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon...	ORPHA:422
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Hepatomeg...	ORPHA:137675
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Abnormal aortic valve morphology, Hepatomegaly, Hypertrophic cardiomyop...	ORPHA:1194
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Dilated Cardiomyopathy With Ataxia	Neonatal hypoglycemia, Muscular ventricular septal defect, Prolonged QT interval, Elevated circul...	ORPHA:66634
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Pulmon...	OMIM:614300
Bardet-Biedl Syndrome 2	Obesity, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus, Dilated cardiomyopathy	OMIM:615981
Laing Early-Onset Distal Myopathy	Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc...	ORPHA:59135
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Cardiomyopathy, Dilated, 2J	Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced...	OMIM:620635
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Combined Oxidative Phosphorylation Deficiency 38	Failure to thrive, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Ketotic hypoglycemia, Dilated cardiomyopathy	ORPHA:79159
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular...	ORPHA:3092
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating hepatic transaminase concentration, Hepatic steato...	OMIM:616829
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Small for gestational age, Hypertrophic cardiomyopathy	OMIM:615917
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertens...	OMIM:278000
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatic steatosis, Hepatic failure	OMIM:617872
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ...	OMIM:609286
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop...	ORPHA:330001
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Indomethacin Embryofetopathy	Atrial septal defect, Ventricular septal defect, Cardiomyopathy	ORPHA:1909
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Cardiomyopathy, Abnormal myo...	ORPHA:228308
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Glycogen Storage Disease Ii	Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis devia...	OMIM:232300
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Skeletal muscle...	OMIM:300280
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Small for gestational age, Hypertrophic cardiomyopathy,...	OMIM:620135
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Mitochondrial Complex I Deficiency, Nuclear Type 7	Failure to thrive, Hypertrophic cardiomyopathy	OMIM:618229
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Ventricular septal hypertrophy, Elevated circulating hepatic tra...	OMIM:269700
Polyvalvular Heart Disease Syndrome	Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi...	ORPHA:228410
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Cardiac arrest, Short stature, Diabetes mellitus, Paroxysmal atrial tac...	ORPHA:49827
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia	ORPHA:99944
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Obesity, Ach...	OMIM:615418
Mitochondrial Dna Depletion Syndrome 11	Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ...	OMIM:615084
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Atriove...	ORPHA:392
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Increased intraabdominal fat, Lipodystrophy, Insulin resistan...	ORPHA:79085
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g...	ORPHA:119
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	ORPHA:159
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:3222
Infantile Liver Failure Syndrome 2	Jaundice, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic ...	OMIM:616483
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating...	ORPHA:367
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hyperlipidemia, Ventricular septal defect, Obesity, Arrhythmia, Intrauterin...	ORPHA:254346
Fetal Parvovirus Syndrome	Intrauterine growth retardation, Hypertrophic cardiomyopathy	ORPHA:295
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul...	ORPHA:465508
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Membranous subvalvular aortic stenosis, Short stature, Biliary tract abnormality...	ORPHA:3191
Obesity And Hypopigmentation	Obesity, Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Hypoglycemia, Short stature, Rhabdomyolysis, Dilated cardiomyopathy	OMIM:618120
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Coll...	OMIM:115250
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve...	ORPHA:1686
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cardiomyopathy, Nemaline bodies, Short stature, Flexion contracture, Myopathy	OMIM:616549
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating hepatic transaminase concentration, Left bundle branch block, Ventricular bi...	OMIM:610131
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Facial myokymia, Dilated cardiomyopathy, Limb hypertonia	ORPHA:324588
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr...	OMIM:611493
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Generalized amyotrophy, Abnormal EKG, Lower limb hypertonia, Lower limb muscle weakness	ORPHA:1177
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase...	OMIM:616866
Autosomal Recessive Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Scapular winging, Facial palsy, Cardiomyopathy, Hand muscle weakness, M...	ORPHA:254886
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert...	OMIM:616501
Congenital Myopathy 4A, Autosomal Dominant	Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m...	OMIM:255310
Sengers Syndrome	Cardiac arrest, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Growth delay, Sudde...	OMIM:212350
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Immune-Mediated Necrotizing Myopathy	Myocarditis, Congestive heart failure, Myositis, Scapular winging, EMG: myopathic abnormalities, ...	ORPHA:206569
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, F...	ORPHA:5
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Hypoglycemia, Elevated circulating alanine aminotransferase concentrati...	OMIM:620609
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Cardiomyopathy, Decreased circulating cortisol level, Intrauterine grow...	OMIM:618839
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Atrial flutter, Abnormal tricuspid valve morphology, Angina pectoris, Bact...	ORPHA:1330
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr...	OMIM:618719
Glycogen Storage Disease Due To Aldolase A Deficiency	EMG: myopathic abnormalities, Growth delay, Skeletal myopathy, Muscle fiber atrophy, Exercise-ind...	ORPHA:57
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Postprandial hyperglycemia, Second degree atrioventricular block, Ventricu...	ORPHA:79102
Dysbetalipoproteinemia	Hypertriglyceridemia, Tendon xanthomatosis, Xanthelasma, Hepatomegaly, Angina pectoris, Acute pan...	ORPHA:412
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Weakness of facial musculature, Dil...	ORPHA:352447
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Sarcosinemia	Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy	ORPHA:3129
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatocellular carc...	OMIM:619902
Congenital-Onset Steinert Myotonic Dystrophy	Facial hypotonia, Decreased body weight, Obesity, Bundle branch block, First degree atrioventricu...	ORPHA:589821
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Neonatal hypoglycemia, Cardiomyopathy, Splenomegaly	OMIM:619046
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal aortic valve morphology, Vasculitis, Abnormal heart val...	ORPHA:3287
Barth Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Growth delay, Ske...	OMIM:302060
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Elevated circulating alanine aminotransferase ...	OMIM:300842
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Aortic valve c...	ORPHA:3093
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Short stature, Dec...	OMIM:619013
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Cardiomyopathy, Short stature, Splenomegaly, Skeletal muscle atrop...	OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 35	Intrauterine growth retardation, Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Antenatal intracerebral hemorrhage, Elevated circulating hepatic transaminase conce...	OMIM:608836
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Growth delay, Short stature, Atrial septal...	OMIM:620211
Noonan Syndrome 11	Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Short stature	OMIM:618499
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent...	OMIM:619290
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E...	OMIM:611878
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Peroxisomal Acyl-Coa Oxidase Deficiency	Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ...	OMIM:264470
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Hypertension, Pulmonary arterial hypertension, Intrauterine growth reta...	OMIM:617021
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ...	OMIM:620066
Myotonic Dystrophy 1	Atrial flutter, Cholelithiasis, Atrial fibrillation, Facial diplegia, First degree atrioventricul...	OMIM:160900
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Short stature, Bacterial endocarditis, Heart block, Premature ventricular contraction	ORPHA:1964
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalitie...	ORPHA:71
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, P...	OMIM:615474
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly	OMIM:266500
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Truncal obesity, Arrhythmia	ORPHA:2928
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Cardiomyopathy, Finger joint contracture, Telangiectasia of the skin, Lipodystrophy, Dilated card...	OMIM:212112
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Growth delay...	OMIM:261750
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr...	OMIM:300559
Mitochondrial Complex I Deficiency, Nuclear Type 6	Failure to thrive, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertr...	OMIM:618228
Nephronophthisis 16	Situs inversus totalis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Pulmonic s...	OMIM:615382
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Short stature, Failure to thrive, Lipody...	ORPHA:300536
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra...	ORPHA:79230
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventr...	ORPHA:444013
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Inguinal hernia, EMG: myopathic abnormalities, Hypertrophic card...	OMIM:620326
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Congestive heart failure, Hepatomegaly, Elevated circulating hepatic tr...	ORPHA:26791
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy	OMIM:618683
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle steatosis, F...	ORPHA:436271
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hypertension, Hyperlipidemia, Increased body weight, Proximal amyotrophy, Hyperaldosteronism, Dor...	ORPHA:189427
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiac arrest, Cardiomyop...	OMIM:617713
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased blood pressure, ...	OMIM:619487
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Diabetes mellitus, Cardiomyopathy, Myopathy	ORPHA:1215
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Patent foramen ovale, Restrictive cardiomyopathy, Camptodactyly, Short stature, Flexion contractu...	ORPHA:88630
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy	OMIM:617184
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Cardiomyopathy, Hepatic steatosis, Myopathy	OMIM:614922
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Inguinal hernia, Failure to thrive, Mitral valve prolapse, Hepatic steatosis, Myoca...	OMIM:236200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, ...	OMIM:619418
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, G...	ORPHA:445038
Hemochromatosis, Type 3	Elevated circulating hepatic transaminase concentration, Cirrhosis, Cardiomyopathy	OMIM:604250
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Prolonged neonatal jaundice, Acute hepatic failure, Micronodular cirrhosis, Recurren...	OMIM:256810
Congenital Gerbode Defect	Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf...	ORPHA:99095
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Jaundice, Hyperlipidemia, Acute pancreatitis, Decreased body weight, Failur...	ORPHA:444490
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Hypertrophic ...	ORPHA:368
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating...	OMIM:613027
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Cardiomyopathy, Failure to thrive, Splenomegaly	ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Intr...	OMIM:618835
Hsd10 Mitochondrial Disease	Hypoglycemia, Hypertrophic cardiomyopathy	OMIM:300438
Polyarteritis Nodosa	Hypertension, Cardiomyopathy, Pericarditis, Raynaud phenomenon, Weight loss	ORPHA:767
Wild Type Abeta2M Amyloidosis	Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnorm...	ORPHA:85446
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal cardiac ventricle morphology, Monoclonal ligh...	ORPHA:85443
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Inguinal hernia, Hypertension, Sh...	OMIM:614947
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Cholelithiasis, Ketotic hypoglycemia, Hypertrophic cardiomyopathy, Fail...	OMIM:620646
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio...	ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular...	OMIM:618329
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ...	OMIM:261680
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:263455
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia	ORPHA:3386
Propionic Acidemia	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Limb hypertonia, Cardiomyopathy, Short stature...	OMIM:606054
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h...	ORPHA:369929
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Hypertrophic cardiomyopathy	OMIM:618241
Hec Syndrome	Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia	ORPHA:2119
Monosomy 13Q34	Pulmonic stenosis, Common atrium, Growth delay, Obesity, Epistaxis, Hematochezia, Insulin resista...	ORPHA:96168
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Hypertrophic cardiomyopathy, Generalized amyotrophy, Telangiectasia of the skin, Te...	ORPHA:79279
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Hypertrophic cardiomyopathy, Short stature	ORPHA:638
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas...	ORPHA:348
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Hypertension, Omphalocele, Type I diabetes mellitus, Mitral valve prolapse...	ORPHA:371428
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Calf muscle hypertrophy, Achilles tendon contracture, Thigh hypertrophy, Dila...	OMIM:607155
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Rhizomelia, Hypertrophic cardiomyopathy, Severe short-limb dwarfism, Failure to thr...	ORPHA:1842
Fabry Disease	Abnormal endocardium morphology, Congestive heart failure, Delayed puberty, Abnormal aortic valve...	ORPHA:324
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Limb hypertonia, Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Intrauterine gr...	OMIM:617710
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Cardiomyopathy, Rhabdomyolysis, Arrhythmi...	ORPHA:157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Card...	OMIM:258450
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase co...	ORPHA:79303
Roifman Syndrome	Postnatal growth retardation, Hepatomegaly, Noncompaction cardiomyopathy, Short stature, Hip cont...	OMIM:616651
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Short stature, Failure to thrive, Cardiomyopathy, Intrauterine growth retardation	ORPHA:324525
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he...	OMIM:212065
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatomegaly, Cholestasis, Biliary cirrhosis, Hypoglycemia, Nod...	OMIM:620454
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Atrial septal defect, Atrioventricular canal defect, Jaundice, Hepatomegaly...	OMIM:619573
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Failure to thrive, Atrial septal d...	OMIM:615279
Glycogen Storage Disease Due To Acid Maltase Deficiency	Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Left ventricular...	ORPHA:365
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ragged-red muscle fibers, ...	ORPHA:17
Alg1-Cdg	Decreased liver function, Abnormal heart morphology, Cardiomyopathy	ORPHA:79327
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P...	OMIM:124000
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h...	OMIM:615438
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Hep...	ORPHA:209902
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ...	ORPHA:268
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato...	ORPHA:298
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypotension, Tricu...	ORPHA:100080
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy	OMIM:500007
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Short stature, Renovascular hypertension, Type II diabetes mellitus, Bicusp...	ORPHA:401923
Noonan Syndrome 8	Large for gestational age, Hypertrophic cardiomyopathy, Pulmonic stenosis, Failure to thrive, Sho...	OMIM:615355
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cardiac arrest, ...	ORPHA:20
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Myotonic Dystrophy 2	Right bundle branch block, Insulin insensitivity, Premature ventricular contraction, Sternocleido...	OMIM:602668
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis, Limb hypertonia	OMIM:615918
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy	OMIM:612989
Alstrom Syndrome	Hypertriglyceridemia, Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transa...	OMIM:203800
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Postnatal growth retardation, Intrahepatic cholestasis, Jaundice, Hypog...	OMIM:617093
Hydrops Fetalis	Capillary leak, Pericardial effusion, Abnormal heart morphology, Arrhythmia, Small for gestationa...	ORPHA:1041
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Increased variability in muscle fiber ...	OMIM:604377
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia	ORPHA:230839
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circu...	OMIM:603471
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Elevated circulating hepatic transaminase concentration, Prolonged QTc inte...	OMIM:616878
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Neonatal hypoglycemia, Rhizomelia, Growth delay, Flexion contracture, I...	OMIM:616271
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Weakness of facial musculature, Hypertrophic cardiomyopat...	OMIM:220110
Alg3-Cdg	Decreased liver function, Cardiomyopathy, Lipodystrophy, Arthrogryposis multiplex congenita, Macr...	ORPHA:79321
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia,...	OMIM:605911
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Tricuspid regurgitation, Dysplastic ...	OMIM:620067
Cornelia De Lange Syndrome 2	Intrauterine growth retardation, Postnatal growth retardation, Hypertrophic cardiomyopathy, Short...	OMIM:300590
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Cholelithiasis, Bradycardia, Hypertrophic cardiomyopathy, Pericardi...	OMIM:618775
Pulmonary Hypertension, Primary, 4	Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ...	OMIM:615344
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mitral stenosis, Abnormal hea...	ORPHA:2847
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Increased endomysial connective tissue,...	OMIM:602541
Adrenomyodystrophy	Short stature, Failure to thrive, Hepatic steatosis, Myopathy	ORPHA:977
Dpm1-Cdg	Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Campto...	ORPHA:79322
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial...	OMIM:619051
Infantile Spasms-Broad Thumbs Syndrome	Vaginal hernia, Hypertrophic cardiomyopathy	ORPHA:3173
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hypotension, Tricuspid regurgitation, Hepatic failure, Facial telangiectasia, Right...	ORPHA:97287
Fabry Disease	Delayed puberty, Congestive heart failure, Ventricular septal hypertrophy, Angina pectoris, Hyper...	OMIM:301500
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Tricuspid regurgitation, Elevated circulating alanine aminotransferase concentration...	OMIM:620300
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Failure to thrive, Flexion contracture, Weakness of facial musculature, Myopathy	OMIM:201470
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive...	ORPHA:97292
Roifman Syndrome	Postnatal growth retardation, Noncompaction cardiomyopathy, Short stature, Hip contracture, Hepat...	ORPHA:353298
Rheumatic Fever	Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Aplasia/Hypoplasi...	ORPHA:3099
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Congestive heart failure, Increased hepatic glycogen content, Cardiomyopathy, Limb muscle weaknes...	OMIM:619259
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy, Left ventricular hypertrophy	OMIM:102200
Isolated Atp Synthase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Short stature, Arrhythmia, Dilated cardiomyopathy	ORPHA:254913
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:615895
Familial Isolated Hypoparathyroidism	Short stature, Abnormal dental enamel morphology, Myopathy, Arrhythmia	ORPHA:2238
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Cardiomyopathy, Failure to thrive, Hypoglycemia	OMIM:251000
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Rhabdomyolysis, Weight loss	OMIM:188580
Dominant Beta-Thalassemia	Delayed puberty, Cirrhosis, Jaundice, Hypoplasia of the musculature, Hepatocellular carcinoma, He...	ORPHA:231226
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Postnatal growth retardation, Steatorrhea, Hepatomegaly, Skeletal muscle fibrosi...	OMIM:616263
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Hypertr...	OMIM:230500
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep...	ORPHA:2088
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Atrioventricular canal defect, Abnormal pulmonary valve morpholo...	ORPHA:500
Joubert Syndrome 32	Large for gestational age, Hypertrophic cardiomyopathy	OMIM:617757
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee...	OMIM:300972
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypotension, Tricu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypotension, Tricu...	ORPHA:100082
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Pearson Syndrome	Postnatal growth retardation, Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminas...	ORPHA:699
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrophic cardiomyopath...	OMIM:615415
Lyme Disease	Atrioventricular block, Arrhythmia	ORPHA:91546
Systemic Capillary Leak Syndrome	Myocarditis, Pancreatitis, Hypotension, Pericarditis, Weight loss, Arrhythmia	ORPHA:188
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	OMIM:617156
Refsum Disease	Splenomegaly, Heart block, Cardiomyopathy, Skeletal muscle atrophy	ORPHA:773
Mitochondrial Complex I Deficiency, Nuclear Type 29	Palpitations, Abnormal heart morphology, Failure to thrive, Hypertrophic cardiomyopathy	OMIM:618250
Liddle Syndrome	Hypertension, Cerebral ischemia, Arrhythmia	ORPHA:526
Developmental And Epileptic Encephalopathy 75	Decreased liver function, Prolonged neonatal jaundice, Cardiomyopathy	OMIM:618437
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio...	OMIM:619167
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating hepatic transaminase concentration, Facial diplegia, Left ventricular hypert...	ORPHA:254892
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Combined Oxidative Phosphorylation Deficiency 57	Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Small for gestational age, Hypertr...	OMIM:620167
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Congestive heart failure, Atrial flutter, Cardiomegaly, Reduce...	ORPHA:980
Noonan Syndrome 5	Large for gestational age, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Arrhyth...	OMIM:611553
Idiopathic Copper-Associated Cirrhosis	Copper accumulation in liver, Cirrhosis, Hepatic steatosis	ORPHA:209919
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Sho...	OMIM:618641
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Bradycardia, Increased circulating free fatty acid level, Failure to th...	OMIM:610768
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyop...	OMIM:617303
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Cardiomyopathy, Hepatomegaly	ORPHA:27
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C...	ORPHA:2137
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Reduced left ventricular ejection fraction, Myositis, Facial palsy, Cardiomyo...	ORPHA:258
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis	ORPHA:210548
Congenital Macroglossia	Macroglossia, Abnormal hepatic glycogen storage	ORPHA:2430
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Ventricular septal defect, Skeletal m...	OMIM:607598
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension, Decreased heart rate variability	OMIM:105120
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Hypercholesterolemia, Pa...	ORPHA:79259
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Hypovolemic shock, Proportionate short stature, Glucocortocoid-insensitive primar...	ORPHA:171876
Juvenile Dermatomyositis	Calcinosis, Gastrointestinal hemorrhage, Myositis, Vasculitis, Angina pectoris, Cardiomyopathy, P...	ORPHA:93672
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Hypoglycosylation...	ORPHA:370959
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Tricus...	OMIM:619705
Gracile Syndrome	Cirrhosis, Cholestasis, Elevated hepatic iron concentration, Intrauterine growth retardation, Hep...	ORPHA:53693
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ...	ORPHA:101330
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion,...	OMIM:619313
Mucolipidosis Type Ii	Postnatal growth retardation, Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic r...	ORPHA:576
Friedreich Ataxia	Congestive heart failure, Diabetes mellitus, Abnormal EKG, Hypertrophic cardiomyopathy	OMIM:229300
Melas	Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,...	ORPHA:550
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Elevated circulating hepatic...	ORPHA:99845
Beta-Thalassemia Major	Delayed puberty, Cirrhosis, Jaundice, Hepatomegaly, Hypoplasia of the musculature, Hepatocellular...	ORPHA:231214
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Hepatocellular carci...	ORPHA:88618
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor...	ORPHA:363705
Abetalipoproteinemia	Congestive heart failure, Distal lower limb muscle weakness, Steatorrhea, Elevated circulating he...	ORPHA:14
Rabson-Mendenhall Syndrome	Diabetic ketoacidosis, Fasting hypoglycemia, Fasting hyperinsulinemia, Severe postnatal growth re...	ORPHA:769
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Cardiac arrest, Epistaxis, Splenomegaly, Arrhythmia	ORPHA:99745
Atypical Werner Syndrome	Hypertriglyceridemia, Delayed puberty, Lipoatrophy, Calf muscle hypertrophy, Hypertension, Aortic...	ORPHA:79474
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri...	ORPHA:251071
Harel-Yoon Syndrome	Distal amyotrophy, Hypertrophic cardiomyopathy	OMIM:617183
Beta-Thalassemia	Hepatomegaly, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatitis	ORPHA:848
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Rhizomelic arm shortening, Atrioventricular block, Arrhythmia, Disproportionate shor...	ORPHA:93317
Gm1 Gangliosidosis	Congestive heart failure, Inguinal hernia, Cardiomyopathy, Ventricular septal defect, Short statu...	ORPHA:354
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal left ventricular function, Hypercholesterolemia, Abnormal tendon m...	ORPHA:391665
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Myopathy	OMIM:275630
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Failure to thrive, Ventric...	OMIM:300952
Citrullinemia Type Ii	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	ORPHA:247585
Idiopathic Pulmonary Arterial Hypertension	Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr...	ORPHA:275766
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:201450
Glycogen Storage Disease Ia	Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:232200
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Congestive heart failure, Heart block, Tricuspid atresia, Dext...	ORPHA:185
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Pulmonic stenosis, Hypertrophic cardiomyopathy, Short stature	ORPHA:2701
Leopard Syndrome 2	Short stature, Hypertrophic cardiomyopathy	OMIM:611554
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi...	ORPHA:158687
Ogden Syndrome	Postnatal growth retardation, Torticollis, Inguinal hernia, Cardiogenic shock, Arrhythmia, Ventri...	ORPHA:276432
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Hypotension, Hepatitis, Pericarditis, Splenomegaly, Arrhythm...	ORPHA:549
Singleton-Merten Syndrome 2	Aortic valve stenosis, Aortic valve calcification, Short stature, Arrhythmia	OMIM:616298
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic tr...	OMIM:619127
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,...	OMIM:264800
Hyperkalemic Periodic Paralysis	Congestive heart failure, Skeletal muscle hypertrophy, Flexion contracture, Skeletal muscle atrop...	ORPHA:682
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he...	ORPHA:275761
Dextrocardia	Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormality of abdominal situs, Abno...	ORPHA:1666
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacu...	OMIM:164310
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Aicardi-Goutieres Syndrome 7	Hematemesis, Hepatomegaly, Limb hypertonia, Vasculitis, Hypertension, Hypertrophic cardiomyopathy...	OMIM:615846
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Acute rhabdomyolysis, Hypoglycemic seizures, Prolonged QT interval, Elevated circulating hepatic ...	ORPHA:480864
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated circulating hepatic transaminase concentration, Type 2 muscle fiber predominance, Hypert...	OMIM:615471
Chromosome 2Q37 Deletion Syndrome	Short stature, Obesity, Subvalvular aortic stenosis, Arrhythmia	OMIM:600430
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Growth delay, Cardiac arrest, Arrhythmia	ORPHA:168593
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Hypertension, Cardiomyopathy, Abnormality of the hepatic vasculature...	ORPHA:247691
D-2-Hydroxyglutaric Aciduria 1	Cardiomyopathy, Aortic regurgitation	OMIM:600721
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Cholestasis, Growth delay, Hepatosplenom...	ORPHA:541423
Neuroendocrine Tumor Of Stomach	Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypot...	ORPHA:100075
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Acute pancreatitis, Premat...	ORPHA:466677
Erythrokeratodermia Variabilis Et Progressiva 6	Arrhythmia	OMIM:618531
Hurler Syndrome	Hepatomegaly, Aortic regurgitation, Inguinal hernia, Cardiomyopathy, Short stature, Hepatosplenom...	OMIM:607014
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,...	OMIM:617877
Hurler Syndrome	Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Hypertension, Cardiomyopathy, Sho...	ORPHA:93473
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Myositis, Vasculitis, Hypertension, Transient ischemic att...	ORPHA:183
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati...	OMIM:605814
Hyperglycinemia, Lactic Acidosis, And Seizures	Growth delay, Joint contracture, Hypertrophic cardiomyopathy	OMIM:614462
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Mildly reduced left ventricular ejection fraction, Arrhythmia	OMIM:618098
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Tachycardia	ORPHA:464453
Congenital Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Abnormal heart morphology, Hepatosplenomegaly, Umbilical hernia, A...	ORPHA:93400
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy	ORPHA:544469
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Failure to thrive, Cardiomyocyte hypertrophy, Ventricular tachycardia, ...	OMIM:605676
Thrombotic Thrombocytopenic Purpura	Myocardial infarction, Arrhythmia	ORPHA:54057
Isolated Complex I Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Failure to thr...	ORPHA:2609
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Aortic regurgitation, Inguinal hernia, Cardiomyopathy, Short stature, Severely redu...	OMIM:252600
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Lower limb amyotrophy, Delayed puberty, Hypertrophic cardiomyopathy	ORPHA:496790
Familial Glucocorticoid Deficiency	Hypoglycemic seizures, Ketotic hypoglycemia, Hypotension, Hypertrophic cardiomyopathy, Failure to...	ORPHA:361
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Tricuspid stenosis, Hypotension, Pulmoni...	ORPHA:100078
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level, Intrauterine growth retardation	OMIM:618838
Ogden Syndrome	Left atrial enlargement, Premature ventricular contraction, Umbilical hernia, Cardiomegaly, Intra...	OMIM:300855
Mucopolysaccharidosis, Type Vii	Postnatal growth retardation, Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Dias...	OMIM:253220
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short stature, Camptodactyly of finger, Arrhythmia	ORPHA:3201
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Hypertension, Hypertrophic cardiomyopathy, Growth delay, Failure to thrive, Umbi...	OMIM:614052
Leopard Syndrome 1	Delayed puberty, Scapular winging, Delayed menarche, Hypertrophic cardiomyopathy, Pulmonic stenos...	OMIM:151100
Congenital Enterovirus Infection	Myocarditis, Cardiomyopathy, Hypotension, Cholestasis, Pericardial effusion, Hepatitis, Hepatic f...	ORPHA:292
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Hepatomegaly, Inguinal hernia, Sinus tachycardia, Cardiomyopathy, Pulmon...	OMIM:253200
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova...	OMIM:619343
Costello Syndrome	Abnormal dental enamel morphology, Ventricular septal defect, Hypertrophic cardiomyopathy, Thicke...	ORPHA:3071
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Rest...	ORPHA:758
Wolfram Syndrome 1	Growth delay, Diabetes mellitus, Cardiomyopathy	OMIM:222300
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:614299
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Vasculitis, Cardiomyopathy...	OMIM:225750
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Cardiomyopathy, Dilat...	ORPHA:363623
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Hypoglycemia, Failure to thrive	OMIM:210200
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Hepatic steatosis	OMIM:231680
Combined Oxidative Phosphorylation Deficiency 5	Growth delay, Hypertrophic cardiomyopathy	OMIM:611719
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventri...	OMIM:616897
Car T Cell Therapy-Associated Cytokine Release Syndrome	Heart block, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej...	ORPHA:542323
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection f...	ORPHA:581
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Biliary hyperpl...	OMIM:619991
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Failure to thrive, Umbilical hernia, Intrauterine growth retardation...	OMIM:612938
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypoglycemia, Hypertrophic cardiomyopathy	ORPHA:391428
Pulmonary Arteriovenous Malformation	Ischemic stroke, Myocardial infarction, Liver abscess, Bacterial endocarditis, Transient ischemic...	ORPHA:2038
Pituitary Gigantism	Type II diabetes mellitus, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:99725
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing...	OMIM:613658
Leprechaunism	Postnatal growth retardation, Hepatomegaly, Hyperinsulinemia, Fasting hypoglycemia, Severe intrau...	ORPHA:508
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Noonan Syndrome 6	Pulmonic stenosis, Growth delay, Hypertrophic cardiomyopathy, Short stature	OMIM:613224
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:618810
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Macrovesicular hepatic steatosis, Ragged-red muscle fibers, Cholestasis, Elevated c...	OMIM:614924
Von Hippel-Lindau Disease	Myocarditis, Distal lower limb muscle weakness, Neoplasm of the pancreas, Pancreatic islet cell a...	ORPHA:892
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano...	ORPHA:99094
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro...	ORPHA:464321
Mucopolysaccharidosis Type 1	Congestive heart failure, Abnormal aortic valve morphology, Inguinal hernia, Abnormal tendon morp...	ORPHA:579
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Noonan Syndrome 7	Large for gestational age, Hypertrophic cardiomyopathy, Pulmonic stenosis, Growth delay, Short st...	OMIM:613706
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Eisenmenger Syndrome	Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef...	ORPHA:97214
Leber Optic Atrophy	Myopathy, Arrhythmia	OMIM:535000
Microcephaly 13, Primary, Autosomal Recessive	Intrauterine growth retardation, Restrictive cardiomyopathy, Small for gestational age, Short sta...	OMIM:616051
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Prolonged QT interval, Elevated circulating hepatic t...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Prolonged QT interval, Elevated circulating hepatic t...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Prolonged QT interval, Elevated circulating hepatic t...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Prolonged QT interval, Elevated circulating hepatic t...	ORPHA:881
Primary Hyperoxaluria	Heart block, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Intermitten...	ORPHA:416
Bloom Syndrome	Postnatal growth retardation, Growth delay, Facial telangiectasia in butterfly midface distributi...	OMIM:210900
Leptospirosis	Jaundice, Hepatomegaly, Hypotension, Retinal hemorrhage, Pericarditis, Rhabdomyolysis, Subconjunc...	ORPHA:509
Meier-Gorlin Syndrome 7	Meconium peritonitis, Heart block, Decreased body weight, Short stature, Growth delay, Atrial sep...	OMIM:617063
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Short stature, Cardiomegaly, Dilated cardiomyopathy, Myoc...	OMIM:208000
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C...	OMIM:229600
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Aortic valve atresia, Inguinal hernia, Microvesicular hepatic steatosi...	OMIM:220111
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Martsolf Syndrome 1	Congestive heart failure, Inguinal hernia, Cardiac arrest, Cardiomyopathy, Short stature	OMIM:212720
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Patent foramen ovale, Enamel hypoplasia, Arrhythmia, Intrauterine g...	OMIM:619184
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hepatomegaly, Flexion contracture, Hypertrophic cardiomyopathy	OMIM:619383
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration...	OMIM:615486
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Limb hypertonia, Cardiomyopathy, Generalized amyotrophy, Intrauterine grow...	ORPHA:572798
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Cirrhosis, Elevated circulating hepatic transaminase concentration, ...	OMIM:276700
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Flexion contracture of toe, Elevated circulating hepatic transaminase conce...	OMIM:256040
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Coenzyme Q10 Deficiency, Primary, 1	Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Decreased level of coenzyme Q10 in skeleta...	OMIM:607426
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal tricuspid valve morphology, Inguinal hernia, Flexion contracture of digit,...	ORPHA:580
Vici Syndrome	Short stature, Cardiomyopathy	ORPHA:1493
Agel Amyloidosis	Cardiomyopathy, Facial palsy, Abnormal spleen morphology, Orthostatic hypotension due to autonomi...	ORPHA:85448
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Growth delay, Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy	OMIM:619121
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Orthostatic hypotension, Orthostatic syncope, Syncope, Insulin resistance, Hypo...	ORPHA:230
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro...	OMIM:261515
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transam...	ORPHA:247598
Bardet-Biedl Syndrome	Hypertriglyceridemia, Childhood-onset truncal obesity, Elevated circulating hepatic transaminase ...	ORPHA:110
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal dental enamel morphology, Short stature, Camptodactyly of finger, Arrhythmia, Diabetes m...	ORPHA:3220
Giant Cell Arteritis	Vasculitis, Cerebral ischemia, Double outlet right ventricle with subpulmonary ventricular septal...	ORPHA:397
Microscopic Polyangiitis	Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Vasculitis, Pericarditis, Ep...	ORPHA:727
Hypocalcemic Vitamin D-Dependent Rickets	Postnatal growth retardation, Hepatomegaly, Cardiomyopathy, Short stature, Failure to thrive, Ena...	ORPHA:289157
Friedreich Ataxia	Cardiomyopathy, Diabetes mellitus, Hand muscle atrophy	ORPHA:95
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Short stature, Arrhythmia, Overridi...	OMIM:309801
Mucopolysaccharidosis Type 2, Severe Form	Abnormal tricuspid valve morphology, Inguinal hernia, Abnormal heart valve morphology, Hypertensi...	ORPHA:217085
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Cirrhosis, Hypertrophic cardiomyopathy, Failure to thrive, Glycosuria, Exocrine pancreatic insuff...	OMIM:616539
Aromatase Deficiency	Hyperlipidemia, Growth delay, Eunuchoid habitus, Obesity, Type II diabetes mellitus, Insulin resi...	ORPHA:91
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hepatomegaly, Cardiomyopathy, Diastasis recti, Omphalocele, Hepatoblastoma...	OMIM:130650
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Atrial septal defect, Inguinal hernia, Right bundle branch block, Hyper...	OMIM:617403
Penoscrotal Transposition	Cardiomyopathy	ORPHA:2842
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal tricuspid valve morphology, Inguinal hernia, Abnormal heart valve morphology, Hypertensi...	ORPHA:217093
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inguinal hernia, Elevated ...	OMIM:619525
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Failure to thrive, Telangiectasia of the skin, Cerebral ischemia, Arrhythmia	ORPHA:60040
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiomyopathy, Failure to thrive, Cardiac conduction abnormality, Arrhythmia, ...	ORPHA:2131
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Hepatosplenomegaly, Intrauterine growth retardation, Macroglossia, Abnormal odont...	ORPHA:79255
Garg-Mishra Progeroid Syndrome	Short stature, Microvesicular hepatic steatosis, Postnatal growth retardation	OMIM:620601
Wolfram Syndrome	Delayed puberty, Gastrointestinal hemorrhage, Cardiomyopathy, Abnormal mesentery morphology, Diab...	ORPHA:3463
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Hepatomegaly, Prolonged QT interval, Inguinal hernia, Cardiomyop...	ORPHA:373
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Hypertrophic card...	OMIM:252010
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Patent foramen ovale, Tricuspid regurgitation, Pulmonary arterial hyper...	ORPHA:505248
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Failure to thrive, Cardiac c...	ORPHA:255210
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypomimic face, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	ORPHA:309854
Pagod Syndrome	Congenital diaphragmatic hernia, Situs inversus totalis, Omphalocele, Short stature, Abnormality ...	ORPHA:991
Noonan Syndrome 4	Large for gestational age, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Atrial ...	OMIM:610733
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Inguinal hernia, Hiatus hernia, Hypertension, Cardiac arre...	ORPHA:3342
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Hepatomegaly, Elevated circulating hepatic transaminase concentration...	ORPHA:404454
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the pectoralis major muscle, Short stature, Camptodactyly of finger, ...	ORPHA:3138
Usher Syndrome	Abnormal dental enamel morphology, Abnormal cardiovascular system physiology, Myopathy, Hypertrop...	ORPHA:886
Localized Scleroderma	Vasculitis, Arrhythmia, Flexion contracture, Raynaud phenomenon, Skeletal muscle atrophy, Progres...	ORPHA:90289
Osteootohepatoenteric Syndrome	Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Fail...	OMIM:619377
1P36 Deletion Syndrome	Annular pancreas, Abnormal cardiac septum morphology, Abnormal heart valve morphology, Short stat...	ORPHA:1606
Familial Multiple Nevi Flammei	Pulmonary embolism, Intracranial hemorrhage, Arrhythmia	ORPHA:624
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Cholelithiasis, Restrictive cardiomyopathy, Growth delay, Splenomegaly	ORPHA:822
Cartilage-Hair Hypoplasia	Heart block, Hepatomegaly, Rhizomelia, Disproportionate short-limb short stature, Cardiomyopathy,...	ORPHA:175
Acromesomelic Dysplasia 4	Rhizomelia, Short stature, Umbilical hernia, Disproportionate short stature, Third degree atriove...	OMIM:619636
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Mitral stenosis, Mitral valve prol...	OMIM:616564
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Hepatomegaly, Hypertension, Hypertrop...	OMIM:270400
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short stature, Intrauterin...	OMIM:615356
Leigh Syndrome	Congestive heart failure, Ventricular septal defect, Hypertrophic cardiomyopathy, Growth delay, F...	ORPHA:506
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Cholelithiasis	OMIM:619273
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short sta...	OMIM:619745
Kleefstra Syndrome	Hernia, Ventricular septal defect, Short stature, Obesity, Tetralogy of Fallot, Arrhythmia, Bicus...	ORPHA:261494
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hernia, Cardiomyopathy, Abnormal cardiac septum morphology	OMIM:217980
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Hepatomegaly, Aortic regurgitation, Inguinal hernia, Severe postnatal g...	OMIM:252500
Noonan Syndrome	Postnatal growth retardation, Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature,...	ORPHA:648
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Hepatocellular carcinoma, Elevated circulatin...	OMIM:277900
16P11.2P12.2 Microdeletion Syndrome	Tricuspid regurgitation, Short stature, Camptodactyly of finger, Arrhythmia, Intrauterine growth ...	ORPHA:261211
Vici Syndrome	Postnatal growth retardation, Congestive heart failure, Atrial septal defect, Cardiomyopathy, Fai...	OMIM:242840
Noonan Syndrome 2	Atrioventricular canal defect, Patent foramen ovale, Cardiomyopathy, Ventricular septal defect, H...	OMIM:605275
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Panniculitis, Noncompaction cardiomyopathy, Rhizomelic arm shortening, ...	ORPHA:508542
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Limb hypertonia, Congenital generalized lipodystrophy, Skeleta...	ORPHA:3455
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypotension, Hypovolemia, Cardiogenic shock, Arrhythmia	ORPHA:31824
Hermansky-Pudlak Syndrome 1	Hematochezia, Cardiomyopathy, Epistaxis	OMIM:203300
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Arima Syndrome	Cirrhosis, Hepatomegaly, Hypertension, Growth delay, Hepatic fibrosis, Hepatic steatosis	OMIM:243910
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Growth delay, Cardiomyopathy, Splenomegaly	OMIM:616084
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Congestive heart failure, Jaundice, Elevated circulating hepatic transaminase co...	OMIM:619475
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Small thenar eminence, Pulmonic stenosis, Mitral valve pr...	OMIM:142900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy, Hepatocellular necrosis,...	OMIM:618278
Hyperoxaluria, Primary, Type I	Atrioventricular block, Intermittent claudication, Raynaud phenomenon, Arterial occlusion	OMIM:259900
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypertrophic cardiomyopathy, Short stature, Hepatosplenomegaly, Splenomegaly, Weigh...	OMIM:613673
Mgat2-Cdg	Reflex asystolic syncope, Failure to thrive, Abnormal heart morphology, Arrhythmia, Ventricular s...	ORPHA:79329
African Trypanosomiasis	Myocarditis, Congestive heart failure, Jaundice, Hepatomegaly, Abnormality of circulating cortiso...	ORPHA:3385
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Pericardial effusion, Hyperaldosteronism, Dilated cardiomyopathy, Hepat...	ORPHA:73224
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Umbilical hernia	ORPHA:1517
Hennekam-Beemer Syndrome	Hypotension, Short stature, Camptodactyly of finger, Failure to thrive, Telangiectasia of the ski...	ORPHA:2135
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi...	OMIM:300868
Toriello-Carey Syndrome	Postnatal growth retardation, Cardiomyopathy, Pulmonic stenosis, Short stature, Tetralogy of Fall...	ORPHA:3338
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatic steatosis, Transposition of the great arteries, Muscular ventricular septal ...	OMIM:619503
Cockayne Syndrome Type 3	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased blood pressure, ...	ORPHA:90324
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Aicardi-Goutières Syndrome	Lipoatrophy, Elevated circulating hepatic transaminase concentration, Panniculitis, Myositis, Hyp...	ORPHA:51
Dermatomyositis	Myocarditis, Chondrocalcinosis, Elevated circulating hepatic transaminase concentration, Inflamma...	ORPHA:221
Friedreich Ataxia 2	Congestive heart failure, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic ste...	OMIM:601992
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Large for gestational age, Restrictive cardiomyopathy	OMIM:615398
Glycogen Storage Disease Ic	Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Spider hemangioma, Hypertension...	OMIM:232240
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Tricuspid valve prolapse, Abnormal dental enamel morphology, Hyp...	ORPHA:2556
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Patent foramen ovale, Right bundle branch block, Hypertrophic cardiomyopathy, Tricuspid regurgita...	OMIM:617506
Lymphedema-Distichiasis Syndrome	Cellulitis, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia	OMIM:153400
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Cardiomyopathy, Epistaxis, Weight...	ORPHA:79430
Holoprosencephaly	Congenital diaphragmatic hernia, Omphalocele, Diabetes mellitus, Tetralogy of Fallot, Abnormality...	ORPHA:2162
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Large for gestational age, Aortic regurgitation, Inguinal hernia, Hypertrophic cardiomyopathy, Pu...	OMIM:607721
Trichothiodystrophy	Multiple joint contractures, Cardiomyopathy, Absence of subcutaneous fat, Enamel hypoplasia, Umbi...	ORPHA:33364
Noonan Syndrome 3	Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, S...	OMIM:609942
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Bradycardia, Hypertension, Hypertensive ...	ORPHA:94093
Postinfectious Vasculitis	Ischemic stroke, Bacterial endocarditis, Hypertension, Cardiomyopathy, Viral hepatitis, Vasculiti...	ORPHA:48435
Carney Triad	Gastrointestinal hemorrhage, Leiomyosarcoma, Hypertension, Arrhythmia, Tachycardia	ORPHA:139411
Costello Syndrome	Rhabdomyosarcoma, Ventricular septal defect, Hypoglycemia, Hypertrophic cardiomyopathy, Pulmonic ...	OMIM:218040
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Rhabdomyosarcoma, Hepatomegaly, Neona...	ORPHA:116
Castleman Disease	Jaundice, Restrictive cardiomyopathy, Weight loss	ORPHA:160
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr...	ORPHA:93111
Oculodentodigital Dysplasia	Abnormal dental enamel morphology, Camptodactyly of finger, Arrhythmia, Umbilical hernia, Hypogly...	ORPHA:2710
Camurati-Engelmann Disease	Delayed puberty, Abnormal subcutaneous fat tissue distribution, Hepatomegaly, Cachexia, Facial pa...	ORPHA:1328
Kawasaki Disease	Myocarditis, Congestive heart failure, Jaundice, Vasculitis, Abnormal heart valve morphology, Dou...	ORPHA:2331
Botulism	Arrhythmia	ORPHA:1267
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
Lymphedema-Distichiasis Syndrome	Diabetes mellitus, Arrhythmia	ORPHA:33001
Cockayne Syndrome B	Postnatal growth retardation, Hepatomegaly, Severe failure to thrive, Hypertension, Failure to th...	OMIM:133540
Cockayne Syndrome A	Hepatomegaly, Severe postnatal growth retardation, Hypertension, Short stature, Failure to thrive...	OMIM:216400
Foodborne Botulism	Arrhythmia	ORPHA:228371
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pancreatitis, Angina pectoris, Vasculitis, Hypertension, Cerebral is...	ORPHA:900
Spondyloarthropathy, Susceptibility To, 1	Enthesitis, Aortic regurgitation, Arrhythmia	OMIM:106300
Alström Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypertension, Hype...	ORPHA:64
Schwartz-Jampel Syndrome	Flexion contracture of toe, Inguinal hernia, Shoulder flexion contracture, Skeletal muscle hypert...	ORPHA:800
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, F...	ORPHA:1340
Intellectual Developmental Disorder, Autosomal Dominant 68	Intrauterine growth retardation, Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Raynaud phenomenon, Arrhythmia	ORPHA:2874
Ivic Syndrome	Severe short stature, Arrhythmia	ORPHA:2307
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Restrictive cardiomyopathy, Obesity, Abnormal heart morphology, Atrial sept...	ORPHA:369837
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Familial Mediterranean Fever	Pancreatitis, Vasculitis, Pericarditis, Acute hepatic failure, Splenomegaly, Peritonitis, Arrhyth...	ORPHA:342
Koolen-De Vries Syndrome Due To A Point Mutation	Postnatal growth retardation, Cardiomyopathy, Pulmonic stenosis, Slender build, Abnormal heart mo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Postnatal growth retardation, Cardiomyopathy, Pulmonic stenosis, Slender build, Abnormal heart mo...	ORPHA:363958
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Flexion contracture, Intrauterine growth retardation, Abdominal obesity, Hepatic s...	OMIM:619321
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Arthrogryposis multiplex congenita, Splenomegaly, Arrhythmia	ORPHA:163746
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy	OMIM:618222
Digeorge Syndrome	Cholelithiasis, Inguinal hernia, Truncus arteriosus, Femoral hernia, Short stature, Obesity, Tetr...	OMIM:188400
Zimmermann-Laband Syndrome 1	Hepatomegaly, Cardiomyopathy, Splenomegaly, Umbilical hernia	OMIM:135500
Oculodentodigital Dysplasia	Enamel hypoplasia, Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger	OMIM:164200
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Transposition of the great arteries, Hepatomegaly, Inguinal hern...	OMIM:312870
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Arrhythmia, Tetralogy of Fallot, Umbilical hernia, Atrial septal defect, Ventricular...	ORPHA:1519
Oculoectodermal Syndrome	Growth delay, Atrial septal defect, Transient ischemic attack, Hypertrophic cardiomyopathy	OMIM:600268
Fanconi Anemia	Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Short stature, Growth delay, Tetra...	ORPHA:84
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypotension, Arrhythmia	ORPHA:428
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Large for gestational age, Hepatomegaly, Diastasis recti, Ventricul...	ORPHA:96334
Yunis-Varon Syndrome	Postnatal growth retardation, Severe failure to thrive, Hypertension, Cardiomyopathy, Pulmonary a...	ORPHA:3472
Williams Syndrome	Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Umbilical hernia, Card...	ORPHA:904
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Rhizomelia, Arrhythmia, Disproportionate short stature, Atrial septal defect	OMIM:250220
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Scarring, Heart block, Hepatomega...	ORPHA:797
Amoebiasis Due To Free-Living Amoebae	Facial palsy, Myocardial necrosis, Arrhythmia	ORPHA:68
Wiskott-Aldrich Syndrome	Hematemesis, Vasculitis, Internal hemorrhage, Epistaxis, Hematochezia, Intracranial hemorrhage, A...	ORPHA:906
Stickler Syndrome	Cachexia, Abnormal dental enamel morphology, Short stature, Slender build, Skeletal muscle atroph...	ORPHA:828
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Abnormal hea...	ORPHA:363700
Acromegaly	Hypertension, Hypertrophic cardiomyopathy, Diabetes mellitus, Mitral regurgitation, Macroglossia	ORPHA:963
Somatomammotropinoma	Hypertension, Hypertrophic cardiomyopathy, Diabetes mellitus, Mitral regurgitation, Macroglossia	ORPHA:314769
Ulnar-Mammary Syndrome	Delayed puberty, Inguinal hernia, Elbow flexion contracture, Obesity, Arrhythmia, Ventricular sep...	OMIM:181450
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Genital hernia, Umbilical ...	ORPHA:285
Plague	Hematemesis, Hepatomegaly, Hypotension, Splenomegaly, Arrhythmia, Tachycardia, Endocarditis	ORPHA:707
Noonan Syndrome 1	Postnatal growth retardation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Fail...	OMIM:163950
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ...	OMIM:607872
17Q11 Microdeletion Syndrome	Delayed puberty, Rhabdomyosarcoma, Hypertension, Hypertrophic cardiomyopathy, Pulmonary arterial ...	ORPHA:97685
Pmm2-Cdg	Abnormal subcutaneous fat tissue distribution, Abnormal liver parenchyma morphology, Hyperinsulin...	ORPHA:79318
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Cyst of the ductus choledochus, Cardiomyopathy, Short stature, Atrial septal defect	ORPHA:480880
Yunis-Varon Syndrome	Severe failure to thrive, Patent foramen ovale, Birth length less than 3rd percentile, Cardiomyop...	OMIM:216340
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Rhizomelia, Camptodactyly of 2nd-5th fingers, Inguinal hernia, M...	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.

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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

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Gene: Hadhb MGI:2136381

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

MicroCT E18.5

Eye Morphology

Eye Morphology

Eye Morphology

Human diseases caused by Hadhb mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data