Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Congenital Heart Defects, Multiple Types, 6 |
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Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Right Atrial Isomerism |
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Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Congenital Heart Defects, Multiple Types, 9 |
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Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
Cardiomyopathy, Dilated, 1I |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Microphthalmia, Syndromic 9 |
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Severe short stature, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, ... |
OMIM:601186 |
Scimitar Syndrome |
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Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphragm morphology, Paten... |
ORPHA:185 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Heterotaxy, Visceral, 12, Autosomal |
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Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Cardiomyopathy, Dilated, 1R |
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Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Heterotaxy, Visceral, 5, Autosomal |
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Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
Congenitally Corrected Transposition Of The Great Arteries |
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Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Aortic Arch Interruption |
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Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Congenital Myopathy 8 |
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Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Short stature, Flexion contracture, Mild intrauterine growth retardation, Stillbirth, Abnormal ca... |
OMIM:308050 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card... |
OMIM:614096 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Meckel Syndrome 14 |
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Occipital encephalocele, Single ventricle |
OMIM:619879 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Congenital Toxoplasmosis |
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Hepatomegaly, Intrauterine growth retardation, Cardiomegaly |
ORPHA:858 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Cardiomegaly |
OMIM:300886 |
Attrv30M Amyloidosis |
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Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly |
OMIM:613576 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Cardiac Valvular Dysplasia 1 |
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Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Mulibrey Nanism |
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Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constri... |
OMIM:253250 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Fixed Subaortic Stenosis |
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Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Familial Atrial Myxoma |
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Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Timothy Syndrome |
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Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Attrv122I Amyloidosis |
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Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Neuraminidase Deficiency |
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Hepatomegaly, Skeletal muscle atrophy, Short stature, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano... |
ORPHA:1457 |
Holoprosencephaly 1 |
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Short stature, Single ventricle |
OMIM:236100 |
Carnitine Deficiency, Systemic Primary |
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Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced muscle carnitine level, Endocardial... |
OMIM:212140 |
Cantu Syndrome |
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Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Infantile Sialic Acid Storage Disease |
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Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
Coronary Arterial Fistula |
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Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Right v... |
ORPHA:2041 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Intrauterine ... |
OMIM:617713 |
Mucopolysaccharidosis, Type Iiib |
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Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Danon Disease |
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Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Cardiomegaly, Hepatocellular necrosis, Hypertrophi... |
OMIM:201475 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Ventricular septal defect, Cardiomegaly, Flexion contracture, Intrauterine growth retardation, Hy... |
OMIM:616897 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis |
ORPHA:42 |
Refsum Disease, Classic |
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Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:266500 |
Lethal Congenital Contracture Syndrome 10 |
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Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Hemochromatosis, Type 1 |
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Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:235200 |
Familial Aortic Dissection |
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Patent ductus arteriosus, Cardiomegaly |
ORPHA:229 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
Neurocardiofaciodigital Syndrome |
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Short stature, Patent ductus arteriosus, Double inlet left ventricle, Atrial septal defect, Tetra... |
OMIM:619869 |
Holoprosencephaly 2 |
|
Single ventricle |
OMIM:157170 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Postnatal growth retardation, Short stature, Cardiomegaly |
OMIM:613320 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Short stature, Cardiomegaly, Sp... |
OMIM:602782 |
Lethal Acantholytic Erosive Disorder |
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Camptodactyly of toe, Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly |
ORPHA:158687 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... |
ORPHA:96191 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... |
ORPHA:268 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Cantú Syndrome |
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Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Rhabdomyolysis, Dilated car... |
OMIM:614921 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis mult... |
OMIM:608013 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Short stature, Cardiomegaly |
OMIM:208000 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosu... |
ORPHA:3384 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:619259 |
Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphol... |
ORPHA:980 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... |
ORPHA:308552 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:465508 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Rhizomelia, ... |
OMIM:245600 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... |
OMIM:232300 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... |
OMIM:608836 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical hernia, Arthrogr... |
OMIM:618143 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Renal tubular epithelial necrosis, Cardiomyopathy, Abnormal myocardiu... |
ORPHA:228308 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Cardiomegaly |
OMIM:620306 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia |
OMIM:230000 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature, Cardiomegaly |
ORPHA:2463 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Myelopathy, Growth delay, Macroglossia... |
OMIM:252500 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Hepatosplenomegaly |
OMIM:618278 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Short stature, Cardiomegaly, Bilateral wrist flexion contracture, Congenital co... |
ORPHA:97297 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Ogden Syndrome |
|
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... |
OMIM:300855 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... |
ORPHA:365 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Patent ductus arteriosus, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Umbilical hernia, Ab... |
ORPHA:581 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Abetalipoproteinemia |
|
Hepatomegaly, Distal lower limb muscle weakness, Myopathy, Cardiomegaly |
ORPHA:14 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Short stature, Cardiomegaly, Hepatosplenomegaly, Hypertrop... |
ORPHA:51 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Cardiomegaly, Sple... |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... |
ORPHA:116 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, Cardiomyopa... |
ORPHA:3472 |
Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Subvalvular ... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |