| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Hyperactivity, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Microhydranencephaly, X-Linked |
|
Intrauterine growth retardation, Holoprosencephaly |
OMIM:306990 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale |
OMIM:617182 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Impulsivity, Attention deficit hyperactivity disorder, Aggressive behav... |
OMIM:620141 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ... |
ORPHA:1908 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Fragile X Syndrome |
|
Self-biting, Recurrent hand flapping, Hyperactivity, Mitral valve prolapse |
OMIM:300624 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly |
OMIM:212140 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Dysphagia, Restlessness, Paroxysmal bursts of laughter |
ORPHA:391428 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis, Hyperactivity |
OMIM:619239 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect |
OMIM:618798 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620642 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotyp... |
OMIM:617600 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Addictive alcohol use, Hepat... |
ORPHA:57777 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Mitral valve prolapse... |
ORPHA:449291 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Dysphagia, Right ventricular hypertrophy |
ORPHA:268 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holo... |
ORPHA:63259 |
| Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal temper tantrums, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve m... |
ORPHA:581 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:465508 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Dysphagia |
OMIM:608013 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly |
ORPHA:79330 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inappropriate laughter, Cardiomegaly |
OMIM:618143 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:614921 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy |
OMIM:608836 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly,... |
OMIM:602782 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:252500 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Dysphagia |
ORPHA:365 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... |
OMIM:300855 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:130650 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect |
ORPHA:137675 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale |
OMIM:620371 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:620376 |
| Semilobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93924 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:51 |
| Williams Syndrome |
|
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defec... |
ORPHA:904 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe... |
OMIM:619991 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki... |
ORPHA:116 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial septal defect |
ORPHA:3472 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:256040 |
| Schinzel-Giedion Syndrome |
|
Neural tube defect, Umbilical hernia |
ORPHA:798 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification |
ORPHA:51608 |
