Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:115210 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Left atrial enlargement |
OMIM:612201 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... |
OMIM:611556 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613876 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy |
OMIM:614676 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613874 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left ventricular nonc... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... |
OMIM:612158 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophi... |
OMIM:615248 |
Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Calf muscle hypertrophy, Left ventricular hypertr... |
ORPHA:206546 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613251 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Left atrial enlar... |
OMIM:608751 |
Cardiomyopathy, Dilated, 1V |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613697 |
Atrial Fibrillation, Familial, 10 |
|
Left ventricular hypertrophy, Right ventricular dilatation, Left atrial enlargement |
OMIM:614022 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:617713 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Myocardial fibrosis, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613873 |
Myofibrillar Myopathy 10 |
|
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Elbow ... |
OMIM:619040 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... |
ORPHA:86812 |
Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613838 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Hepatomegaly |
OMIM:619048 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy |
OMIM:614654 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Restrictive cardiomyopathy, Left vent... |
ORPHA:85451 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventric... |
OMIM:608758 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... |
ORPHA:169186 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture |
OMIM:616733 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Left ventricular hypertrophy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Hypertrophi... |
OMIM:615418 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy |
OMIM:205400 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:102200 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Familial Dilated Cardiomyopathy |
|
Left ventricular hypertrophy, Right ventricular dilatation |
ORPHA:217607 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Skeletal myopathy, Distal amyotrophy, Noncompaction cardiomyopathy,... |
ORPHA:3208 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial septal defect, Subaortic ventri... |
OMIM:612098 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Left ventricular hypertrophy, Biventricular hypertrophy, Patent forame... |
OMIM:615474 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... |
OMIM:615355 |
Congenital Aortic Valve Stenosis |
|
Aortic valve calcification, Aortic valve stenosis, Aortic valve atresia, Left ventricular hypertr... |
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, Mitral valve prolapse, Left ventricular noncompaction |
OMIM:163800 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy |
ORPHA:444013 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Camptodactyly |
OMIM:611209 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:619167 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:335 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy |
ORPHA:251274 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Peripartum Cardiomyopathy |
|
Left ventricular hypertrophy, Myocarditis, Dilated cardiomyopathy, Left atrial enlargement, Abnor... |
ORPHA:563 |
Cardiac Diverticulum |
|
Tricuspid atresia, Mitral stenosis, Bicuspid aortic valve, Diastasis recti, Atrial septal defect,... |
ORPHA:1686 |
Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
ORPHA:57777 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, EMG: myopathic abnormalities, Dilated cardiomyopathy, G... |
OMIM:300257 |
Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic valve stenosis |
OMIM:619698 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Macroglossia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Facial hyp... |
ORPHA:308552 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Lower limb muscle weakness, Skeletal myopathy, Rhabdomyolysis, Card... |
ORPHA:746 |
Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricul... |
OMIM:616564 |
Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy |
ORPHA:320 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrial septal defect, Tendon rupture, Left ventricular hypertrophy, Mitral valve prolapse, Abnorm... |
ORPHA:230851 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Lower limb hypertonia, Pericardit... |
OMIM:619487 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:79330 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ov... |
ORPHA:99094 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Fabry Disease |
|
Left ventricular hypertrophy, Ventricular septal hypertrophy |
OMIM:301500 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy |
ORPHA:90065 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Reduced muscle c... |
OMIM:212140 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... |
OMIM:245600 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pulmonic stenosis, Left ventricular hypertrophy, Small thenar eminence, Camptodactyly |
OMIM:619148 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve atresia, Left ventricular hype... |
ORPHA:2299 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy |
OMIM:619355 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:618321 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Left ventricular hypertrophy, Quadriceps muscle weakness, EMG: myopathic abnorma... |
ORPHA:254892 |
Vici Syndrome |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Cardiomyopathy, Myopathy |
OMIM:242840 |
Mucolipidosis Type Ii |
|
Diastasis recti, Abnormal mitral valve morphology, Hip contracture, Splenomegaly, Left ventricula... |
ORPHA:576 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Tangier Disease |
|
Facial diplegia, Left ventricular hypertrophy, Hepatosplenomegaly, Coronary artery stenosis |
ORPHA:31150 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, My... |
OMIM:115197 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Flexion contracture, Macroglossia,... |
ORPHA:365 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy, Right ventricula... |
ORPHA:99106 |
Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Skeletal muscle atrophy, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
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 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy |
OMIM:261740 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... |
ORPHA:268 |
Refsum Disease, Classic |
|
Limb muscle weakness, Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
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 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy |
ORPHA:42 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:235200 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Bardet-Biedl Syndrome 1 |
|
Left ventricular hypertrophy |
OMIM:209900 |
Fabry Disease |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Abnormal aortic valve morphology, Abno... |
ORPHA:324 |
Cranioectodermal Dysplasia 2 |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Patent foramen ovale |
OMIM:613610 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Flexion contracture, Left ventricular hypertrophy, Mitral valve calcification, Pate... |
OMIM:619127 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Atrial septal defect, Right ventricular hypertrophy, Left ventricular hypertrophy, Abnormal left ... |
ORPHA:466791 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Exercise-induced rhabdomyolysis, Cardiomegaly |
OMIM:201475 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Cardiomegaly, Torticollis |
OMIM:617022 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Distal Monosomy 12Q |
|
Congenital hypertrophy of left ventricle, Elbow flexion contracture, Patent foramen ovale |
ORPHA:96149 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly |
OMIM:616897 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Hypoplasia of the abdo... |
OMIM:612289 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Ventricular sep... |
ORPHA:363705 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... |
OMIM:306955 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Splenomegaly, Cardiomyopathy, Decreased muscle mass, Cardiomegaly |
ORPHA:465508 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosi... |
OMIM:602782 |
Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly |
OMIM:268800 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb muscle weakness, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Glycogen Storage Disease Ii |
|
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Splenomegaly, Limb muscle weakness... |
OMIM:232300 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Aneurysm-Osteoarthritis Syndrome |
|
Pulmonic stenosis, Left ventricular hypertrophy, Camptodactyly of finger, Abnormal heart morphology |
ORPHA:284984 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Enlarged kidney, Increased muscle lipid content, Dilated cardiomyopathy, Elbow flex... |
OMIM:608836 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Cam... |
OMIM:613795 |
Fucosidosis |
|
Hepatomegaly, Macroglossia, Flexion contracture, Splenomegaly, Cardiomegaly |
OMIM:230000 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:1517 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Cardiomegaly |
OMIM:608013 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomegaly |
OMIM:614921 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... |
ORPHA:1677 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Card... |
OMIM:618143 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy |
ORPHA:2463 |
Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
ORPHA:3384 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly |
ORPHA:228308 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Enlarged kidney, Camptodactyly, Arthro... |
OMIM:252500 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, ... |
ORPHA:581 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:618278 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Hepatomegaly, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopa... |
OMIM:130650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Ventricular septal defect, Macroglossia, Hepatomegaly, Cardiomegaly |
ORPHA:96191 |
Bohring-Opitz Syndrome |
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Abnormal cardiac septum morphology, Lower limb hypertonia, Bilateral wrist flexion contracture, C... |
ORPHA:97297 |
Congenital Total Pulmonary Venous Return Anomaly |
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Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... |
ORPHA:99125 |
Abetalipoproteinemia |
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Myopathy, Distal lower limb muscle weakness, Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Ogden Syndrome |
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Torticollis, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Enlarged... |
OMIM:300855 |
Histiocytoid Cardiomyopathy |
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Ventricular septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Flexion contracture of finger, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Cam... |
OMIM:256040 |
Aicardi-Goutières Syndrome |
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Multiple joint contractures, Hepatosplenomegaly, Myositis, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Beckwith-Wiedemann Syndrome |
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Diastasis recti, Hepatomegaly, Congenital diaphragmatic hernia, Macroglossia, Splenomegaly, Rhabd... |
ORPHA:116 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Subvalvular aortic s... |
OMIM:619991 |
Williams Syndrome |
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Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Macroglossia, Ov... |
ORPHA:904 |
Yunis-Varon Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomyopathy, Cardiomegaly |
ORPHA:3472 |
Singleton-Merten Syndrome 1 |
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Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Mitral v... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |