Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... |
OMIM:618654 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Left Ventricular Noncompaction 10 |
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Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
Left Ventricular Noncompaction 8 |
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Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:614096 |
Cardiomyopathy, Dilated, 1Gg |
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Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
Left Ventricular Noncompaction 1 |
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Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
Attrv122I Amyloidosis |
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Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Attrv30M Amyloidosis |
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Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Fixed Subaortic Stenosis |
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Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... |
ORPHA:3092 |
Danon Disease |
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Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
Cardiomyopathy, Dilated, 1D |
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Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Coronary Arterial Fistula |
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Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
Familial Atrial Myxoma |
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Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... |
ORPHA:615 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
Isolated Right Ventricular Hypoplasia |
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Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Sick Sinus Syndrome 2 |
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Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
Cirrhotic Cardiomyopathy |
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Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... |
ORPHA:57777 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal def... |
OMIM:619170 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Timothy Syndrome |
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Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... |
OMIM:601005 |
Complete Atrioventricular Septal Defect |
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Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
Naxos Disease |
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Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Long Qt Syndrome 15 |
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Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly |
OMIM:613576 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly, Bradycardia, Pericardial effusion |
OMIM:614702 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Aorta Coarctation |
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Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
Congenital Tricuspid Valve Dysplasia |
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Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
Idiopathic Pulmonary Hemosiderosis |
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Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... |
ORPHA:99931 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:212140 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
Infantile Sialic Acid Storage Disease |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure |
OMIM:269920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... |
OMIM:619051 |
Hemochromatosis, Type 1 |
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Cardiomyopathy, Congestive heart failure, Pleural effusion, Splenomegaly, Telangiectasia, Cardiom... |
OMIM:235200 |
Neurooculocardiogenitourinary Syndrome |
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Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... |
OMIM:618652 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... |
OMIM:261740 |
Interatrial Communication |
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Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... |
ORPHA:1478 |
Refsum Disease, Classic |
|
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia |
OMIM:266500 |
Mucopolysaccharidosis, Type Iiib |
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Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri... |
OMIM:252920 |
Cardiomyopathy, Dilated, 1S |
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Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... |
OMIM:613426 |
Absence Of The Pulmonary Artery |
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Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Systolic h... |
ORPHA:980 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... |
ORPHA:324410 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... |
ORPHA:268 |
Mulibrey Nanism |
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Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Recurrent lower r... |
OMIM:253250 |
Long-Olsen-Distelmaier Syndrome |
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Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... |
OMIM:620609 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Macroglossia, Hypertrophic cardiomyopathy, Facial hypotonia, Respiratory tract infection, Shorten... |
ORPHA:308552 |
Neuraminidase Deficiency |
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Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:256550 |
Tropical Endomyocardial Fibrosis |
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Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous v... |
OMIM:620642 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Arrhythmia, Distal arthrogryposis, Hepatomegaly |
ORPHA:42 |
Glycogen Storage Disease Ii |
|
Firm muscles, Sinus tachycardia, Pleural effusion, Splenomegaly, Limb muscle weakness, Shortened ... |
OMIM:232300 |
Double Outlet Left Ventricle |
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Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... |
ORPHA:3427 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom... |
OMIM:201475 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest |
OMIM:617713 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Recurrent pneumonia |
ORPHA:3137 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction |
OMIM:208000 |
Truncus Arteriosus |
|
Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary artery atresia, Abnormal lung lobati... |
ORPHA:3384 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Flexion c... |
OMIM:616897 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Limb hypertonia, Pulmonary hypoplasia |
OMIM:620306 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure |
OMIM:619259 |
Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra... |
ORPHA:158687 |
Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ab... |
ORPHA:95430 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... |
ORPHA:363705 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal... |
ORPHA:465508 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... |
OMIM:617022 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Pulmonary arterial hypertension, Hypertension |
OMIM:613320 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly,... |
OMIM:268800 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Facial hypotonia, Ventricular septal defect |
OMIM:618798 |
Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly |
OMIM:603903 |
Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... |
OMIM:614921 |
Amyloidosis, Hereditary Systemic 1 |
|
Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Lip telangiectasia, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa |
ORPHA:79280 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Macroglossia, Atelectasis, Lower limb muscle weakness, Hypertrophic cardiomyopathy, T... |
ORPHA:365 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Decreased muscle mass |
ORPHA:349 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Facial telangiectasia, Sp... |
OMIM:602782 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subarachnoid hemo... |
ORPHA:91387 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c... |
OMIM:608836 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu... |
ORPHA:2463 |
Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Pulmonary edema, Left ventricular hypertrophy, Atrial septal de... |
ORPHA:79330 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block |
ORPHA:228308 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex congenita,... |
OMIM:608013 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Macroglossia, Recurrent pneumonia, Congestive heart failure, Hypertrophic c... |
OMIM:252500 |
Mucopolysaccharidosis Type 3 |
|
Atrioventricular block, Aspiration pneumonia, Reduced left ventricular ejection fraction, Splenom... |
ORPHA:581 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... |
OMIM:245600 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c... |
OMIM:618143 |
Fucosidosis |
|
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Recurrent respiratory infections, Flexion... |
OMIM:230000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Atelectasis, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Recurrent r... |
OMIM:618278 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Atelectasis, Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Li... |
OMIM:620371 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... |
OMIM:130650 |
Bohring-Opitz Syndrome |
|
Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Facial hyp... |
ORPHA:97297 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
Ogden Syndrome |
|
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventricular contraction... |
OMIM:300855 |
Abetalipoproteinemia |
|
Congestive heart failure, Myopathy, Distal lower limb muscle weakness, Cardiomegaly, Hepatomegaly |
ORPHA:14 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Recurrent upper respiratory tract infections, Skeletal muscle atrophy, Congestive heart failure, ... |
OMIM:256040 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myosi... |
ORPHA:51 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... |
OMIM:182250 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis |
OMIM:620376 |
Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Congenital diaphragmat... |
ORPHA:116 |
Liver Disease, Severe Congenital |
|
Pneumonia, Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular ... |
OMIM:619991 |
Williams Syndrome |
|
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... |
ORPHA:904 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Left ventricular systolic dysfunction, Myocar... |
ORPHA:51608 |
Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... |
ORPHA:3472 |