Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy |
OMIM:115210 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... |
OMIM:611556 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613876 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy |
OMIM:614676 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613874 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... |
OMIM:612158 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Myocardial fibrosis, Cardiomyopathy |
OMIM:613873 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Left ventric... |
OMIM:615248 |
Atrial Fibrillation, Familial, 10 |
|
Left atrial enlargement, Left ventricular hypertrophy |
OMIM:614022 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left ventricular hypertrophy, Asymmetric septal hypertrophy |
OMIM:613838 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... |
ORPHA:206546 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular hypert... |
OMIM:604169 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... |
OMIM:108900 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Restrictive cardiomyo... |
OMIM:608751 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... |
ORPHA:86812 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... |
ORPHA:75566 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, EMG: myopathic abnormalities, Knee flexion contracture, Left ventricul... |
OMIM:619040 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Ventricular hypertrophy, Hepatomegaly |
OMIM:619048 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy |
OMIM:614654 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... |
OMIM:613156 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Restrictive cardiomyopathy, Car... |
ORPHA:85451 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture |
OMIM:616733 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Ventricular septal hypertrophy, Left ... |
OMIM:608758 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... |
OMIM:615418 |
Tangier Disease |
|
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy |
OMIM:205400 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:102200 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Familial Dilated Cardiomyopathy |
|
Left ventricular hypertrophy, Right ventricular dilatation |
ORPHA:217607 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Left ventricular hyper... |
OMIM:615355 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... |
ORPHA:3208 |
Congenital Aortic Valve Stenosis |
|
Endocarditis, Dysplastic aortic valve, Endocardial fibroelastosis, Aortic valve calcification, Le... |
ORPHA:3093 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion |
OMIM:239850 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy |
ORPHA:444013 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Camptodactyly |
OMIM:611209 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Hepatomegaly, Left ventricular hypertrophy, Left ventricular noncompactio... |
OMIM:619167 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... |
OMIM:618619 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dy... |
OMIM:253700 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:335 |
Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Right ventricular hypertrophy |
OMIM:268500 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy |
ORPHA:251274 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular dilatation, Left ... |
ORPHA:563 |
Pituitary Gigantism |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:99725 |
Cardiac Diverticulum |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Tricuspid atresia, Tricuspid sten... |
ORPHA:1686 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, EMG: myopathic abnormalities, ... |
OMIM:300257 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Facial hypotonia, Cardiomegaly, Left ven... |
ORPHA:308552 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Mitochondrial Trifunctional Protein Deficiency |
|
Skeletal myopathy, Cardiomyopathy, Left ventricular hypertrophy, Rhabdomyolysis, Lower limb muscl... |
ORPHA:746 |
Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy |
ORPHA:320 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral stenosis, P... |
OMIM:616564 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Pericardial effusion, Ventricular hypertroph... |
OMIM:115197 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect |
ORPHA:79330 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Aortic valve prolapse, Perimembranous ventricul... |
ORPHA:99094 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Pericardial effusion, Left ventricular hypertrophy, Hepatosplenomegal... |
OMIM:619487 |
Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma |
ORPHA:615 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Tendon rupture, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defect, Abnorm... |
ORPHA:230851 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... |
ORPHA:860 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Small thenar eminence, Pulmonic stenosis, Camptodactyly |
OMIM:619148 |
Fabry Disease |
|
Left ventricular hypertrophy, Ventricular septal hypertrophy |
OMIM:301500 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy |
ORPHA:90065 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Re... |
OMIM:212140 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Mitral valve prolapse, Congenital diaphragmatic hernia, Cardiomegaly, Left... |
OMIM:245600 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy |
OMIM:619355 |
Vici Syndrome |
|
Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:242840 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... |
ORPHA:2299 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia... |
ORPHA:254892 |
Timothy Syndrome |
|
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
Mucolipidosis Type Ii |
|
Hip contracture, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomyopat... |
ORPHA:576 |
Aorta Coarctation |
|
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatosplenomegaly, Facial diplegia, Coronary artery stenosis |
ORPHA:31150 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:618652 |
Pulmonary Hypertension, Primary, Autosomal Recessive |
|
Right ventricular hypertrophy |
OMIM:265400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Facial hypotonia, Cardiomegaly, EMG: myo... |
ORPHA:365 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy, Right ventricula... |
ORPHA:99106 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:256550 |
Mulibrey Nanism |
|
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
Bardet-Biedl Syndrome 1 |
|
Left ventricular hypertrophy |
OMIM:209900 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy |
OMIM:261740 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Right ventricular hypertrophy, Cardiomegaly, Proximal mu... |
ORPHA:268 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Limb muscle weakness |
OMIM:266500 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, Contractures of ... |
ORPHA:324410 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly |
ORPHA:42 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:235200 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Atrial septal defect, Patent foramen ovale |
OMIM:613610 |
Fabry Disease |
|
Hypertrophic cardiomyopathy, Abnormal endocardium morphology, Abnormal aortic valve morphology, L... |
ORPHA:324 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... |
ORPHA:439 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Left ventricular hypertrophy, Flexion contracture, Pate... |
OMIM:619127 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Exercise-induced rhabdomyolysis, Cardiomegaly |
OMIM:201475 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Right ventricular hypertrophy, Left ventricular hypertrophy, Ebstein a... |
ORPHA:466791 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Distal Monosomy 12Q |
|
Congenital hypertrophy of left ventricle, Patent foramen ovale, Elbow flexion contracture |
ORPHA:96149 |
Glycogen Storage Disease Ii |
|
Firm muscles, Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Ventricular septal defect, Cardiomegaly, Overriding aorta |
OMIM:617022 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Abnormal heart morphology, Left ventricular hypertrophy, Hypoplasia of the... |
OMIM:612289 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Macroglossia, Cardiomegal... |
ORPHA:363705 |
Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... |
ORPHA:1329 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect, Facial hypotonia |
OMIM:618798 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture |
OMIM:616897 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Decreased muscle mass, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly |
ORPHA:465508 |
Fucosidosis |
|
Decreased muscle mass, Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Macroglossia, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Increased muscle lipid content, Cardiomegaly, Knee flexion ... |
OMIM:608836 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Flexion contracture of toe, Cardi... |
OMIM:602782 |
Fucosidosis |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Flexion contracture |
OMIM:230000 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, Limb muscle weakness |
OMIM:619259 |
Aneurysm-Osteoarthritis Syndrome |
|
Left ventricular hypertrophy, Abnormal heart morphology, Camptodactyly of finger, Pulmonic stenosis |
ORPHA:284984 |
Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Mitral valve prolapse, Ventricular hypertrophy, Pulmonic stenosis, Left ve... |
OMIM:613795 |
Craniofaciofrontodigital Syndrome |
|
Abnormal heart morphology, Cardiomegaly |
OMIM:114620 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Arthrogryposis multiplex congenita, Splenomegaly, Hepatosplenomegaly |
OMIM:608013 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly, Camptodactyly of toe |
ORPHA:158687 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Rhabdomyolysis |
OMIM:614921 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... |
ORPHA:1677 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Arthrogryposis multiplex congenita, Multiple joint cont... |
OMIM:618143 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Cardiomegaly, Hypoplasia of the musculature, Thenar muscle atrophy |
ORPHA:2463 |
Truncus Arteriosus |
|
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... |
ORPHA:3384 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Cardiomegaly, A... |
ORPHA:980 |
Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Diastasis recti |
OMIM:252500 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly |
OMIM:618278 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy |
ORPHA:228308 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Abnormal mitral valve morphology, Macroglossia, Abnormal aortic valve morphology, C... |
ORPHA:581 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... |
ORPHA:95430 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia... |
OMIM:130650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Facial hypotonia, Abnormal cardiac septum morphology, Bilateral wrist flexion contr... |
ORPHA:97297 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... |
ORPHA:99125 |
Abetalipoproteinemia |
|
Cardiomegaly, Hepatomegaly, Myopathy, Distal lower limb muscle weakness |
ORPHA:14 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Greenberg Dysplasia |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:215140 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... |
ORPHA:75565 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Skeletal muscle atrophy, Flexion contracture of toe, Macroglossia, Cardiomegaly, Sp... |
OMIM:256040 |
Aicardi-Goutières Syndrome |
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Hypertrophic cardiomyopathy, Myositis, Cardiomegaly, Hepatosplenomegaly, Multiple joint contractures |
ORPHA:51 |
Beckwith-Wiedemann Syndrome |
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Hypertrophic cardiomyopathy, Hepatomegaly, Rhabdomyosarcoma, Macroglossia, Congenital diaphragmat... |
ORPHA:116 |
Singleton-Merten Syndrome 1 |
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Tendon rupture, Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Muscle fib... |
OMIM:182250 |
Williams Syndrome |
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Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... |
ORPHA:904 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Myocardial calcification, Cardiomegaly, Pericardial effusion |
ORPHA:51608 |