Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
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Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Left Ventricular Noncompaction 8 |
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Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Left Ventricular Noncompaction 1 |
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Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:617713 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... |
ORPHA:85451 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1D |
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Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... |
OMIM:115197 |
Carnitine Deficiency, Systemic Primary |
|
Reduced muscle carnitine level, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis, Hypertrop... |
OMIM:212140 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
Sick Sinus Syndrome 2 |
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Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... |
OMIM:261740 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... |
OMIM:601005 |
Refsum Disease, Classic |
|
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... |
ORPHA:268 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... |
ORPHA:57777 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Skeletal muscle atrophy, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:618652 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrop... |
OMIM:619167 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... |
ORPHA:324410 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... |
OMIM:619051 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Perica... |
OMIM:239850 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Sudden cardiac death, Exercise-induced rhabdomyolysis, Hyp... |
OMIM:201475 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy |
ORPHA:42 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure |
OMIM:253250 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive ... |
OMIM:235200 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... |
ORPHA:1457 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... |
ORPHA:1677 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Macroglossia, Left ventricular outflow tract obstruction, Left ventricular hypertro... |
ORPHA:308552 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Sp... |
OMIM:232300 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressure, Portal ... |
ORPHA:465508 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:619259 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mac... |
ORPHA:363705 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Familial Aortic Dissection |
|
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic regurgitation |
ORPHA:229 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... |
ORPHA:980 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, Cardiomegaly |
ORPHA:99931 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly |
OMIM:616897 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Visceral Steatosis, Congenital |
|
Myocardial steatosis, Neonatal death |
OMIM:228100 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Sudden cardiac death, Tachycardia, Ventricular septal defect, Rhabdomyolysis, Pulmo... |
OMIM:614921 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta |
OMIM:617022 |
Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy,... |
OMIM:268800 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardiomyopathy, Cardi... |
ORPHA:158687 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosi... |
OMIM:602782 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... |
OMIM:620066 |
Heart Block, Congenital |
|
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... |
OMIM:234700 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure |
OMIM:208000 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis multiplex congenit... |
OMIM:608013 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Arrhythmia, Enlarged kidney, Increased muscle lipid content, Dilated cardiomyopathy... |
OMIM:608836 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Mucosal telangiectasiae, Small hypothenar eminence, Thenar muscle ... |
ORPHA:2463 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly |
ORPHA:1517 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Macroglossia, Flexion contracture,... |
ORPHA:365 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... |
OMIM:306955 |
Truncus Arteriosus |
|
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... |
ORPHA:3384 |
Fucosidosis |
|
Hepatomegaly, Macroglossia, Flexion contracture, Splenomegaly, Cardiomegaly |
OMIM:230000 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:79330 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Sickle Cell Anemia |
|
Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block, Renal tubular epithelial n... |
ORPHA:228308 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... |
OMIM:245600 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Card... |
OMIM:618143 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... |
ORPHA:137675 |
Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Mitral regurgitation, Camptodactyly, E... |
OMIM:252500 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa |
ORPHA:79280 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Hepatomegaly, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopa... |
OMIM:130650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly |
ORPHA:96191 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Flexion contracture, Macr... |
ORPHA:581 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Lower limb hypertonia, Bilateral wrist flexion contracture, C... |
ORPHA:97297 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly, Distal lower limb muscle weakness, Myopathy, Congestive heart failure |
ORPHA:14 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Hepatomegaly, Hepatosplenomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Abnormal left ventricular function, Abnormal tendon morphology, Sudden cardiac d... |
ORPHA:391665 |
Ogden Syndrome |
|
Torticollis, Torsade de pointes, Bicuspid aortic valve, Premature atrial contractions, Secundum a... |
OMIM:300855 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Raynaud phenomenon, Hepatosplenomegaly, Myositis, Hypertrophic cardi... |
ORPHA:51 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of finger, Hepatomegaly, Flexion contracture, Macroglossia, Splenomegaly, Cam... |
OMIM:256040 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Myopathy |
ORPHA:154 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Hepatomegaly, Congenital diaphragmatic hernia, Macroglossia, Splenomegaly, Rhabd... |
ORPHA:116 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Mitral v... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Weak pulse, Myocardial calcification, Retinal hemorrhage, Left ventricular systolic dysfunction, ... |
ORPHA:51608 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... |
ORPHA:904 |
Liver Disease, Severe Congenital |
|
Abnormal left ventricular function, Atrial septal defect, Hepatomegaly, Splenomegaly, Systolic he... |
OMIM:619991 |
Yunis-Varon Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Renovascular hypertension, Ventricular septal defect, ... |
ORPHA:3472 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... |
ORPHA:99103 |