Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Cognitive impairment, Dementia |
OMIM:618564 |
Alzheimer Disease 10 |
|
Dementia, Memory impairment |
OMIM:609636 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Cognitive impairment |
OMIM:614934 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... |
OMIM:604765 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Fixed Subaortic Stenosis |
|
Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Bacterial endocarditis, Ventricul... |
ORPHA:3092 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... |
ORPHA:85451 |
Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Atr... |
ORPHA:2041 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, Hepatomegaly, First degree a... |
OMIM:115197 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic ... |
OMIM:614473 |
Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block |
ORPHA:85447 |
Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Atrial septal defect, Right ventricular failure, Abnormal atrioventricular... |
ORPHA:439 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... |
OMIM:614096 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,... |
ORPHA:615 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria... |
ORPHA:860 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... |
OMIM:612158 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... |
ORPHA:1329 |
Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Left atri... |
ORPHA:57777 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:600649 |
Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hep... |
ORPHA:555874 |
Danon Disease |
|
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... |
OMIM:300257 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... |
ORPHA:1677 |
Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Tetralogy of Fallot, Ventricular septal... |
OMIM:601005 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly |
OMIM:269920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension |
OMIM:619064 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Tricuspid regurgitation, Ventricular hypertrophy, Hypertrophic c... |
OMIM:619051 |
Carnitine Deficiency, Systemic Primary |
|
Mitral regurgitation, Cardiomyopathy, Hepatomegaly, Congestive heart failure, Hypertrophic cardio... |
OMIM:212140 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Hypertension, Perim... |
ORPHA:1457 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Mitral regurgitation, Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Vent... |
OMIM:300280 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Patent foramen ovale, C... |
OMIM:618652 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Hemochromatosis, Type 1 |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Telangiectasia, Congestive heart failure, Cardiomegaly,... |
OMIM:235200 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Bradycardia, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral regurgitation, Tricuspid regurgitation, Aortic valve stenosis, Congestive heart failure, A... |
ORPHA:324410 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Mulibrey Nanism |
|
Hepatomegaly, Congestive heart failure, Pericardial constriction, Myocardial fibrosis, Cardiomegaly |
OMIM:253250 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Enlarged kidney, Increased myocardial glycogen conte... |
OMIM:261740 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Refsum Disease, Classic |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:266500 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:252920 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:256550 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Mitral regurgitation, Atrial septal defect, Ventricular septal def... |
OMIM:620066 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Reduced left ventricular ejection fraction, Hepatomegaly, Sudden cardiac death, Hypertrophic card... |
OMIM:201475 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:617713 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Cardiomegaly |
ORPHA:99931 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... |
OMIM:231005 |
Familial Aortic Dissection |
|
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation |
ORPHA:229 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly |
OMIM:208000 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Mitral regurgitation, Atrial septal defect, Ventricular septal d... |
ORPHA:363705 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Left ventricular outflow tract obstruction, Hepatomegaly, Low-outpu... |
ORPHA:308552 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... |
ORPHA:980 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arrhythmia, Cardiomyopathy, Elevated jugular venous pressure, Hepatomegaly, Portal hypertension, ... |
ORPHA:465508 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Right ventricular hypertrophy, Cardiome... |
ORPHA:268 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... |
OMIM:306955 |
Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardiac death, Hepatom... |
OMIM:614921 |
Histiocytoid Cardiomyopathy |
|
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular septal defect, Atrial fibril... |
ORPHA:137675 |
Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia,... |
OMIM:232300 |
Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Impaired myocardial contractility, Cardiomegaly |
ORPHA:158687 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Sandhoff Disease |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Orthostatic hypotension |
OMIM:268800 |
Sickle Cell Disease |
|
Cardiomegaly, Hypertension, Hepatomegaly, Splenomegaly |
OMIM:603903 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction |
OMIM:105210 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Enlarged kidney, Arrhythmia, Hepatomegaly, Dilated cardiomyop... |
OMIM:608836 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Cardiomegaly, Lip telangiectasia, Telangiectasia of the skin |
ORPHA:79280 |
Truncus Arteriosus |
|
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Tachycar... |
ORPHA:3384 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Pulmonary arterial hypertension, Pulmonic stenosis, Atrial septal defect, Ven... |
OMIM:602782 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Subarachnoid hemorrhage, Ischemic stroke, Hypertension, Aortic regurgitation, Bicuspid aortic val... |
ORPHA:91387 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Heart block, Arrhythmia, Cardiomyopathy, Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly |
ORPHA:228308 |
Mogs-Cdg |
|
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Cardiomegaly |
ORPHA:79330 |
Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:99125 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:608013 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Cardiomegaly, Ventricular septal defect |
OMIM:617022 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... |
OMIM:245600 |
Mucolipidosis Ii Alpha/Beta |
|
Mitral regurgitation, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Congestive heart failu... |
OMIM:252500 |
Congenital Tracheomalacia |
|
Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot, Ventricular septal de... |
ORPHA:95430 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Left ventricular hypertrophy, Left ventricular outflow tract obstruction, Hepatomegal... |
ORPHA:365 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Mucosal telangiectasiae |
ORPHA:2463 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:230000 |
Mucopolysaccharidosis Type 3 |
|
Reduced left ventricular ejection fraction, Abnormal mitral valve morphology, Hepatomegaly, Abnor... |
ORPHA:581 |
Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
Ogden Syndrome |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Ventricular tachycardia, Enlarged... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... |
OMIM:300967 |
Abetalipoproteinemia |
|
Cardiomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:14 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ventricular hypertrophy |
OMIM:618278 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia |
OMIM:130650 |
Bohring-Opitz Syndrome |
|
Bradycardia, Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon, Hypertrophic cardiomyopathy |
ORPHA:51 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:96191 |
Williams Syndrome |
|
Mitral regurgitation, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Atrial s... |
ORPHA:904 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Atrial septal defect, Tetralogy of Fa... |
ORPHA:3472 |
Liver Disease, Severe Congenital |
|
Systolic heart murmur, Left atrial enlargement, Ventricular septal defect, Atrial septal defect, ... |
OMIM:619991 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Visceromegaly, Splenome... |
ORPHA:116 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Left ventricular systolic dysfunction, Hypertension, Weak pulse,... |
ORPHA:51608 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Congestive heart ... |
OMIM:182250 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Branchial fistula, Intrauterine growth retardati... |
ORPHA:261330 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial steatosis, Abnormal tendon morphology, Tendon xanthomatosis |
ORPHA:391665 |
Noonan Syndrome 13 |
|
Mitral valve prolapse, Atrial septal defect |
OMIM:619087 |