Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Congenital Myopathy 8 |
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Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Cardiomyopathy, Dilated, 1I |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... |
OMIM:300280 |
Lethal Congenital Contracture Syndrome 10 |
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Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Increased variability in ... |
OMIM:617022 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Congenital Toxoplasmosis |
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Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Neuraminidase Deficiency |
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Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... |
OMIM:256550 |
Infantile Sialic Acid Storage Disease |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Metaphyseal irregularity |
OMIM:269920 |
Isolated Anencephaly |
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Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Macroorchidism, Cardiomegaly |
OMIM:300886 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance... |
OMIM:619036 |
Cantu Syndrome |
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Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... |
OMIM:239850 |
Hemochromatosis, Type 1 |
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Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cardiomyopa... |
OMIM:235200 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea... |
OMIM:618652 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Carnitine Deficiency, Systemic Primary |
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Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Myopathy, Reduced m... |
OMIM:212140 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... |
ORPHA:324410 |
Attrv122I Amyloidosis |
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Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Familial Atrial Myxoma |
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Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Hypogonadotropic... |
ORPHA:465508 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Cardiomegaly, Decreased fi... |
OMIM:616897 |
Sickle Cell Disease |
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Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Mulibrey Nanism |
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Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con... |
OMIM:253250 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse... |
OMIM:613320 |
Heterotaxy, Visceral, 1, X-Linked |
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Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
Attrv30M Amyloidosis |
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Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Hepatic ste... |
ORPHA:42 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder dislocation, Atria... |
OMIM:245600 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Meacham Syndrome |
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Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic he... |
ORPHA:3097 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve... |
OMIM:618143 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ... |
ORPHA:268 |
Danon Disease |
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Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... |
ORPHA:158687 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Hepatomegaly, Exercise-induced rhabdomyolysis, Cardiomegaly, Hepatocellular necrosis, Periportal ... |
OMIM:201475 |
Fixed Subaortic Stenosis |
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Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Refsum Disease, Classic |
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Cardiomyopathy, Short fourth metatarsal, Limb muscle weakness, Cardiomegaly |
OMIM:266500 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Anemia, Cardiomegaly |
OMIM:618838 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Cardiomegaly, Thenar mu... |
ORPHA:2463 |
Timothy Syndrome |
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Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame... |
OMIM:601005 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Mogs-Cdg |
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Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At... |
ORPHA:79330 |
Cantú Syndrome |
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Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Mucolipidosis Ii Alpha/Beta |
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Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand, Flat acetabular roof, Flared iliac ... |
OMIM:252500 |
Proteus-Like Syndrome |
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Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Sandhoff Disease |
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Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Dilated cardiomy... |
OMIM:608836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... |
OMIM:232300 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia, Limb hypertonia |
OMIM:620306 |
Coronary Arterial Fistula |
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Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... |
ORPHA:3472 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Skeletal muscle atrophy, Hypoplastic scapulae, Parotitis, Camptodact... |
OMIM:256040 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... |
OMIM:614921 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Arthrogryposis multiplex co... |
OMIM:608013 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Fucosidosis |
|
Hepatomegaly, Coxa valga, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture... |
OMIM:230000 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Proteus Syndrome |
|
Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5t... |
ORPHA:744 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Diastasis recti, Cardiomegaly, Cryptorchidism, Pa... |
OMIM:130650 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Bohring-Opitz Syndrome |
|
Ulnar deviation of the wrist, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture... |
ORPHA:97297 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... |
ORPHA:308552 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, Ad... |
ORPHA:581 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... |
OMIM:300967 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... |
OMIM:300855 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Myopathy, Hepatic fibrosis, Talipes ... |
ORPHA:14 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, C... |
ORPHA:116 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... |
ORPHA:228308 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... |
ORPHA:365 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac sept... |
ORPHA:980 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chroni... |
ORPHA:51 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries |
ORPHA:137675 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Arachnodactyly, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Atrial septal defect, Clinodactyly of t... |
ORPHA:904 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Stippled c... |
ORPHA:51608 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |