Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Syncope, Pericardial effusion, Ventricular h... |
OMIM:115197 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation |
OMIM:618052 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, EMG: myopathic abnormalities, ... |
OMIM:300257 |
Fixed Subaortic Stenosis |
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Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... |
ORPHA:3092 |
Attrv122I Amyloidosis |
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Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... |
ORPHA:85451 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Coronary Arterial Fistula |
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Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... |
ORPHA:2041 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Hepatomegaly, Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, ... |
ORPHA:860 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Attrv30M Amyloidosis |
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Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Familial Atrial Myxoma |
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Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Congestive heart f... |
ORPHA:615 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradycardia, Pul... |
OMIM:261740 |
Timothy Syndrome |
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Ventricular septal defect, Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Tetralogy... |
OMIM:601005 |
Isolated Right Ventricular Hypoplasia |
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Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... |
ORPHA:439 |
Carnitine Deficiency, Systemic Primary |
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Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Re... |
OMIM:212140 |
Complete Atrioventricular Septal Defect |
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Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... |
ORPHA:1329 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia, Recurrent lower respirat... |
OMIM:619170 |
Naxos Disease |
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Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Cirrhotic Cardiomyopathy |
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Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... |
ORPHA:57777 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiom... |
ORPHA:555874 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly |
OMIM:613576 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Abnormal cardiac ventricular function, Hepatomegaly, Syncope, Paroxysmal atrial fibrillation, Atr... |
ORPHA:1677 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia |
OMIM:600649 |
Refsum Disease, Classic |
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Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:266500 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Proximal muscle weakness in lower limbs, Reduced ejection fraction, Right ventricular hypertrophy... |
ORPHA:268 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal atri... |
ORPHA:324410 |
Absence Of The Pulmonary Artery |
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Truncus arteriosus, Pulmonary edema, Abnormal EKG, Recurrent respiratory infections, Reduced ejec... |
ORPHA:980 |
Infantile Sialic Acid Storage Disease |
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Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly |
OMIM:269920 |
Hemochromatosis, Type 1 |
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Hepatomegaly, Telangiectasia, Cardiomegaly, Cardiomyopathy, Splenomegaly, Congestive heart failur... |
OMIM:235200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Aorta Coarctation |
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Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... |
ORPHA:1457 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Atrial septal defect, Patent fo... |
OMIM:618652 |
Mulibrey Nanism |
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Hepatomegaly, Pericardial constriction, Cardiomegaly, Recurrent lower respiratory tract infection... |
OMIM:253250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... |
OMIM:619051 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Reticular pattern on pulmonary HRCT, Pulmonary fi... |
ORPHA:99931 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
Glycogen Storage Disease Ii |
|
Firm muscles, Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Wolff-Parkinson-White syndr... |
OMIM:232300 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Low-output congestive heart failure, Car... |
ORPHA:308552 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Myopathy, Distal arthrogryposis, Skeletal muscle atrophy, Cardiomegaly, Arrhythmia |
ORPHA:42 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... |
ORPHA:75565 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Reduced ejection fraction, Cardiomegaly, Sudden cardia... |
OMIM:201475 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly, Arrhythmia |
OMIM:255120 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
Truncus Arteriosus |
|
Ventricular septal defect, Truncus arteriosus, Abnormal lung lobation, Right ventricular hypertro... |
ORPHA:3384 |
Beck-Fahrner Syndrome |
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Facial hypotonia, Ventricular septal defect, Cardiomegaly, EEG abnormality |
OMIM:618798 |
Cantu Syndrome |
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Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion |
OMIM:239850 |
Lethal Congenital Contracture Syndrome 10 |
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Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta, Pulmonary hypoplasia |
OMIM:617022 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture, Pulmon... |
OMIM:616897 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Decreased muscle mass, Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Cardiomyopat... |
ORPHA:465508 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... |
ORPHA:363705 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Cardiomegaly |
OMIM:618886 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Congestive heart failure, Cardiomegaly, Cardiomyopathy, Limb muscle weakness |
OMIM:619259 |
Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
Leigh Syndrome With Nephrotic Syndrome |
|
EEG with focal spikes, Cardiomegaly |
ORPHA:255249 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Macroglossia, Orthostatic hypotension, Cardiomegaly, Hepat... |
OMIM:268800 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Aborted sudden cardiac death, Ca... |
OMIM:614921 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Increased muscle lipid content, Antenatal intracerebral hem... |
OMIM:608836 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
Sickle Cell Anemia |
|
Hepatomegaly, Hypertension, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Fucosidosis |
|
Decreased muscle mass, Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Flexion co... |
OMIM:602782 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Absent brainstem auditory responses, Left ventricular hypertrophy, He... |
ORPHA:79330 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Abnormal heart morpho... |
ORPHA:95430 |
Fucosidosis |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Flexion contracture, Recurrent respirator... |
OMIM:230000 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventr... |
ORPHA:137675 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... |
ORPHA:99125 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Cardiomegaly, Facial hypotonia, EMG: myo... |
ORPHA:365 |
Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Recurrent bronchitis, Macroglossia, Aortic regurgitati... |
OMIM:252500 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Hypoplasia of the musculature, Thenar muscle atrophy, Mucosal telangiectasiae, Smal... |
ORPHA:2463 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Arthrogryposis multiplex congenita, Splenomegaly, Hepatosplenomegaly,... |
OMIM:608013 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Arthrogryposis multiplex congenita, EEG with burst supp... |
OMIM:618143 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Cardiomegaly, Telangiectasia of the oral mucosa, Lip telangiectasia |
ORPHA:79280 |
Craniofaciofrontodigital Syndrome |
|
Abnormal heart morphology, Cardiomegaly |
OMIM:114620 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Hypertension, Pneumothorax, Aortic regurgitation, Cardiomegaly, Transient ... |
ORPHA:91387 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Heart block, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Reduced ejection fraction, Abnormal mitral valve morphology, Abnormal aortic valve ... |
ORPHA:581 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Mitral valve prolapse, Congenital diaphragmatic hernia, Cardiomegaly, Left... |
OMIM:245600 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Facial hypotonia, Bradycardia, Abnormal cardiac septum morphology, Bilateral wrist ... |
ORPHA:97297 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia... |
OMIM:130650 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly |
OMIM:618278 |
Abetalipoproteinemia |
|
Hepatomegaly, Myopathy, Cardiomegaly, Congestive heart failure, Distal lower limb muscle weakness |
ORPHA:14 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Flexion contracture of toe, Macroglossia, Cardiomegaly, Sp... |
OMIM:256040 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Greenberg Dysplasia |
|
Hepatomegaly, Abnormal lung lobation, Cardiomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Ple... |
OMIM:215140 |
Singleton-Merten Syndrome 1 |
|
Tendon rupture, Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Muscle fib... |
OMIM:182250 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Myositis, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Mult... |
ORPHA:51 |
Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Rhabdomyosarcoma, Macroglossia, Congenital diaphragmat... |
ORPHA:116 |
Williams Syndrome |
|
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Cerebral ischemia, Overriding aorta,... |
ORPHA:904 |
Generalized Arterial Calcification Of Infancy |
|
Hypertension, Myocardial calcification, Pericardial effusion, Ventricular hypertrophy, Pulmonary ... |
ORPHA:51608 |
Yunis-Varon Syndrome |
|
Hypertension, Ventricular septal defect, Renovascular hypertension, Pulmonary arterial hypertensi... |
ORPHA:3472 |