Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:617713 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Umbili... |
OMIM:239850 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, EMG: myopathic abnormalities, Dilated cardiomyopathy, G... |
OMIM:300257 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Short stature, Growth delay, Intrauterine growth retardation, ... |
OMIM:253250 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... |
OMIM:252011 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, C... |
OMIM:601005 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Reduced muscle c... |
OMIM:212140 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly |
OMIM:619051 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618652 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Splenomegaly, Skeletal muscle atrophy, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Restrictive cardiomyopathy, Left vent... |
ORPHA:85451 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:616501 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, My... |
OMIM:115197 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Refsum Disease, Classic |
|
Limb muscle weakness, Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Cantú Syndrome |
|
Patent ductus arteriosus, Umbilical hernia, Abnormal heart valve morphology, Hypertrophic cardiom... |
ORPHA:1517 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... |
ORPHA:1457 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy |
ORPHA:42 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal d... |
OMIM:306955 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Ventricular septal defect, Overriding aorta, Intrauterine growth retardation, Cardio... |
OMIM:617022 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:235200 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hydrocephalus, Hepatomegaly, Splenomegaly, Mitral va... |
OMIM:231005 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Ventricular septal defect, Hypertrophic cardiomyopathy, Intrauterine growth ... |
OMIM:616897 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Short stature, ... |
ORPHA:363705 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Contractures of the large joints, Abnormal atrioven... |
ORPHA:324410 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... |
ORPHA:268 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia... |
ORPHA:96191 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Short stature |
OMIM:613320 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Cardiomegaly |
ORPHA:229 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Exercise-induced rhabdomyolysis, Cardiomegaly |
OMIM:201475 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:261740 |
Atrial Standstill |
|
Flexion contracture, Left ventricular noncompaction, Muscular dystrophy, Skeletal muscle atrophy,... |
ORPHA:1344 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Leigh Syndrome With Nephrotic Syndrome |
|
Intrauterine growth retardation, Cardiomegaly |
ORPHA:255249 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosi... |
OMIM:602782 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Left ventricular hypertrophy, Left ventricular noncompaction, Neonatal death, Dilat... |
OMIM:619167 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Craniofaciofrontodigital Syndrome |
|
Short stature, Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Arthrogryposis multiplex congenit... |
OMIM:608013 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Intrauterine growth retardation, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Umbi... |
OMIM:618143 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Short stature, Ventricular septal defect, Rhabdomyolysis, Dilated cardiomyopathy, D... |
OMIM:614921 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Decreased muscle mass, Cardiomegaly |
ORPHA:465508 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
ORPHA:57777 |
Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Severe postnatal growth retardation, M... |
OMIM:252500 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb muscle weakness, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Shor... |
OMIM:245600 |
Fucosidosis |
|
Hepatomegaly, Flexion contracture, Short stature, Splenomegaly, Macroglossia, Cardiomegaly |
OMIM:230000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Macroglossia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Facial hyp... |
ORPHA:308552 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
ORPHA:3384 |
Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly |
OMIM:268800 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly, Short stature |
OMIM:208000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Enlarged kidney, Increased muscle lipid content, Dilated cardiomyopathy, Elbow flex... |
OMIM:608836 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction |
OMIM:163800 |
Glycogen Storage Disease Ii |
|
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Splenomegaly, Limb muscle weakness... |
OMIM:232300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Hepatomegaly, Abnormal myocardium morphology, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hydrocephalus, Hepatomegaly, Flexion contracture, Splenomegaly,... |
ORPHA:581 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:79330 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Interstitial cardiac fibrosis, Dilated car... |
OMIM:613426 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy |
ORPHA:2463 |
Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Abnormal cardiac septum morphology, Short stature, Lower limb hypertonia, Bilat... |
ORPHA:97297 |
Ogden Syndrome |
|
Torticollis, Growth delay, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal de... |
OMIM:300855 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Short stature, Hepatosplenomegaly, Arrhinencephaly, Myositis, Hypert... |
ORPHA:51 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Flexion contracture, Macroglossia,... |
ORPHA:365 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... |
ORPHA:1677 |
Visceral Steatosis, Congenital |
|
Myocardial steatosis, Neonatal death |
OMIM:228100 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Hepatomegaly, Congenital diaphragmatic hernia, Macroglossia, Splenomegaly, Rhabd... |
ORPHA:116 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Patent ductus arteriosus, Cardiomegaly |
ORPHA:91387 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:618278 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Hydrocephalus, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Hepatomegaly, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopa... |
OMIM:130650 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... |
ORPHA:99125 |
Abetalipoproteinemia |
|
Myopathy, Distal lower limb muscle weakness, Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Atrial septal defect, Short stature, Arrhinencephaly, Tetralogy of Fallot, Ventric... |
ORPHA:3472 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of finger, Hepatomegaly, Flexion contracture, Short stature, Splenomegaly, Ma... |
OMIM:256040 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Subvalvular aortic s... |
OMIM:619991 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Macroglossia, Ov... |
ORPHA:904 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Short st... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
Homozygous Familial Hypercholesterolemia |
|
Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis |
ORPHA:391665 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Atrioventricular canal defect |
OMIM:618929 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Right ventricular dilatation |
OMIM:618920 |
Attention Deficit-Hyperactivity Disorder 8 |
|
|
OMIM:619957 |