Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement |
OMIM:115210 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613876 |
Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Left atrial enlargement |
OMIM:612201 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613874 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... |
OMIM:615248 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... |
ORPHA:206546 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613251 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Atrial Fibrillation, Familial, 10 |
|
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:614022 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... |
OMIM:608751 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... |
ORPHA:86812 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis |
OMIM:613873 |
Cardiomyopathy, Dilated, 1V |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613697 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... |
OMIM:619040 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy |
OMIM:613838 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy |
OMIM:619048 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... |
OMIM:613156 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme... |
OMIM:608758 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:614654 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture |
OMIM:616733 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab... |
OMIM:615418 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph... |
ORPHA:3208 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ... |
OMIM:618654 |
Tangier Disease |
|
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy |
OMIM:205400 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:102200 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:615355 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Congenital Aortic Valve Stenosis |
|
Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Left ... |
ORPHA:3093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy |
ORPHA:444013 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertroph... |
OMIM:619167 |
Cln3 Disease |
|
Left ventricular hypertrophy |
ORPHA:228346 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:335 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Peripartum Cardiomyopathy |
|
Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor... |
ORPHA:563 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy |
ORPHA:251274 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertr... |
ORPHA:308552 |
Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp |
OMIM:619698 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrophy, Lower limb muscl... |
ORPHA:746 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Atrial septal defect, Left ventricular hy... |
ORPHA:230851 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy |
ORPHA:320 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept... |
OMIM:616564 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Pericardial effusion, Hepatosplenomegaly, Lower limb hypertonia, Left... |
OMIM:619487 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy |
ORPHA:90065 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Camptodactyly |
OMIM:611209 |
Fabry Disease |
|
Left ventricular hypertrophy, Ventricular septal hypertrophy |
OMIM:301500 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis, Camptodactyly |
OMIM:619148 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy |
OMIM:619355 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... |
ORPHA:2299 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:618321 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fibers, Limb ... |
ORPHA:254892 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Mucolipidosis Type Ii |
|
Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Hepatosplenomeg... |
ORPHA:576 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced muscle carnitine level, Endocardial... |
OMIM:212140 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly |
ORPHA:31150 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Bicuspid aortic valve |
OMIM:617168 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl... |
ORPHA:365 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Atrial Septal Defect, Ostium Primum Type |
|
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement, Right atrial... |
ORPHA:99106 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Vici Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect, Left ventricular hypertrophy |
OMIM:242840 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... |
ORPHA:268 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis |
ORPHA:42 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Fabry Disease |
|
Abnormal endocardium morphology, Abnormal aortic valve morphology, Left ventricular hypertrophy, ... |
ORPHA:324 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
Bardet-Biedl Syndrome 1 |
|
Left ventricular hypertrophy |
OMIM:209900 |
Refsum Disease, Classic |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:266500 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Atrial septal defect, Left ventricular hypertrophy, Patent foramen ovale |
OMIM:613610 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anomaly of the tricuspid v... |
ORPHA:466791 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Flexion contracture, Left ventricular hypertrophy, Pate... |
OMIM:619127 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Distal Deletion 12Q |
|
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent foramen ovale |
ORPHA:96149 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Abnorm... |
OMIM:612289 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Left ventricular hypertrophy, Hypert... |
OMIM:220111 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... |
OMIM:602782 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:465508 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:619259 |
Aneurysm-Osteoarthritis Syndrome |
|
Left ventricular hypertrophy, Camptodactyly of finger, Pulmonic stenosis, Abnormal heart morphology |
ORPHA:284984 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased muscle glycogen content, Macroglossia, Firm m... |
OMIM:232300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... |
OMIM:608836 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Pulmonic stenosis, Camptod... |
OMIM:613795 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Rhabdomyolysis, Dilated cardiomyopathy |
OMIM:614921 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita |
OMIM:608013 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Cardiomegaly |
OMIM:620306 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... |
OMIM:618143 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature, Cardiomegaly |
ORPHA:2463 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia |
OMIM:230000 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac sept... |
ORPHA:980 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Macroglossia, Camptodactyly, Arthrogry... |
OMIM:252500 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Abnormal aortic valv... |
ORPHA:581 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Abetalipoproteinemia |
|
Hepatomegaly, Distal lower limb muscle weakness, Myopathy, Cardiomegaly |
ORPHA:14 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Ogden Syndrome |
|
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... |
OMIM:300855 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Flexi... |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... |
ORPHA:116 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |