Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity |
OMIM:608747 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Hyperactivity, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Aggressive behavior, ... |
OMIM:252920 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
Glycine Encephalopathy |
|
Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:309548 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior |
ORPHA:100973 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Joint hypermobility, Abnormal cortical bone morphology, Irrit... |
OMIM:300831 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Beck-Fahrner Syndrome |
|
Depression, Anxiety, Ventricular septal defect, Attention deficit hyperactivity disorder, Joint h... |
OMIM:618798 |
Landau-Kleffner Syndrome |
|
Impulsivity, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity disorder, Aggres... |
ORPHA:98818 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... |
OMIM:619827 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder |
OMIM:619927 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... |
ORPHA:3077 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Thickened cortex of long bones, Cardiomegaly, Pericardial cons... |
OMIM:253250 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Osteoporosis, Pericardial effusi... |
OMIM:239850 |
Fragile X Syndrome |
|
Mitral valve prolapse, Hyperactivity, Joint laxity, Self-biting |
OMIM:300624 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior |
ORPHA:101039 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Osteopenia, Ventricular septal defect, Fractured radius, Hypertrophic cardio... |
OMIM:616897 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Joint stiffness, Apathy, Hepatomegaly, Splenomegaly, Osteoporosis, Arthritis, Stiff interphalange... |
ORPHA:465508 |
Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Asymmetric septal hyp... |
OMIM:252900 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Mitral valve prolapse, Joint laxity,... |
ORPHA:449291 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Atrial septal defect, Hyperactivity, Anxiety, Nail-biting, Attention deficit hypera... |
ORPHA:485405 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity, Joint hypermobility |
OMIM:300143 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Finger joint hypermobility, O... |
ORPHA:363705 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Contractures of the large joints, Abnormal atrioven... |
ORPHA:324410 |
Mucopolysaccharidosis, Type Iiic |
|
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Asymmetric septal hyp... |
OMIM:252930 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pulmonic stenosis, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Paroxysmal bursts of laughter |
ORPHA:391428 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Hyperactivity, Flexion contracture, Hyperextensibility of the finger joints... |
OMIM:309520 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Mucopolysaccharidosis Type 3 |
|
Joint stiffness, Abnormal mitral valve morphology, Hepatomegaly, Hyperactivity, Flexion contractu... |
ORPHA:581 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Recurrent fractures, Bicuspid aortic valve, Atrial septal defect, Craniosynostosis, Osteopenia, L... |
OMIM:245600 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly |
ORPHA:1517 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Block ve... |
OMIM:306955 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Hepatomegaly, Inappropriate crying, Joint laxity, Arthrogryposis mul... |
OMIM:618143 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Stiff neck, Cardiomegaly, Overriding aorta |
OMIM:617022 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal bone ossification, Cardiomegaly, Joint hypermobility |
ORPHA:2463 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Ankylosis, Cardiomegaly |
OMIM:208000 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Failure to thrive, Inability to walk, Microvesicular hepatic steatosis, Micronodular cirrhosis, H... |
ORPHA:404454 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Depression, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Gaucher Disease, Perinatal Lethal |
|
Apathy, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Cardi... |
OMIM:608013 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
Craniofaciofrontodigital Syndrome |
|
Abnormal heart morphology, Cardiomegaly, Joint hypermobility |
OMIM:114620 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosi... |
OMIM:602782 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Limited knee flexion/extension, Limited elbow movement, Limited hi... |
ORPHA:268 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Enlarged kidney, Dilated cardiomyopathy, Elbow flexion contracture, Knee flexion co... |
OMIM:608836 |
Mucopolysaccharidosis Type 2 |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Flexion contracture of dig... |
ORPHA:580 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
ORPHA:57777 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Craniosynostosis, Splenomegaly, Osteopenia, Camptodactyly, Pathologic fracture, Enl... |
OMIM:252500 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Flexion contracture, Splenomegaly |
OMIM:230000 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:79330 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Hyperactivity, Ventricular septal defect, Dextrocardia, Atten... |
OMIM:614294 |
Congenital Tracheomalacia |
|
Atrial septal defect, Tracheomalacia, Single ventricle, Tetralogy of Fallot, Tracheobronchomalaci... |
ORPHA:95430 |
Bohring-Opitz Syndrome |
|
Happy demeanor, Abnormal cardiac septum morphology, Bilateral wrist flexion contracture, Fixed el... |
ORPHA:97297 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:614921 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
ORPHA:308552 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly |
ORPHA:228308 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Irritability, Hepatosplenomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Flexion contracture, Left ventricular hypertrophy, Osteoporosis, Hypertrophic cardi... |
ORPHA:365 |
Abetalipoproteinemia |
|
Osteopenia, Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Osteopenia, Radioulnar synostosis, Ventricular septal defect,... |
ORPHA:904 |
Choreoacanthocytosis |
|
Apathy, Head-banging, Self-injurious behavior, Irritability, Hepatomegaly, Splenomegaly, Depressi... |
ORPHA:2388 |
Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
ORPHA:3384 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Irritability, Hepatosplenomegaly, Arthritis, Hypertrophic cardiomyop... |
ORPHA:51 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Ogden Syndrome |
|
Bicuspid aortic valve, Secundum atrial septal defect, Irritability, Atrial septal defect, Enlarge... |
OMIM:300855 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Joint laxity, Hepatomegaly, Cardiomegaly |
ORPHA:96191 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... |
ORPHA:1677 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Liver Disease, Severe Congenital |
|
Atrial septal defect, Hepatomegaly, Inappropriate crying, Splenomegaly, Ventricular septal defect... |
OMIM:619991 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... |
ORPHA:51608 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:137675 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of finger, Hepatomegaly, Flexion contracture, Splenomegaly, Camptodactyly of ... |
OMIM:256040 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Aortic valve stenosis, Osteopenia, Mitral valve calcification, Osteop... |
OMIM:182250 |
Yunis-Varon Syndrome |
|
Atrial septal defect, Absent sternal ossification, Tetralogy of Fallot, Decreased skull ossificat... |
ORPHA:3472 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly |
OMIM:130650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Visceromegaly, Hypertrophic cardiomyopathy, Cardiome... |
ORPHA:116 |