Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... |
OMIM:310300 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... |
OMIM:601419 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Holt-Oram Syndrome |
|
Finger syndactyly, Paroxysmal atrial fibrillation, Ventricular septal defect, Down-sloping should... |
ORPHA:392 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Desminopathy |
|
Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop... |
ORPHA:98909 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Nonimmune hydrops fetalis, Cardiac arr... |
OMIM:618052 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... |
ORPHA:171445 |
Nathalie Syndrome |
|
Skeletal muscle atrophy, Abnormal EKG |
OMIM:255990 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
Hydrops Fetalis |
|
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma... |
ORPHA:1041 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome, Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd fi... |
OMIM:140450 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulmonary insufficiency, Hydrops fetalis... |
OMIM:619433 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Muscular dystrophy |
OMIM:309930 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... |
OMIM:212138 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis |
ORPHA:295 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... |
OMIM:255160 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block |
ORPHA:480 |
Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops feta... |
OMIM:269920 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Right bundle branch block, Muscular dystrophy |
OMIM:613158 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, ... |
OMIM:618815 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... |
ORPHA:1677 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98855 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... |
ORPHA:26793 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventricular tachycardia |
OMIM:255100 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98853 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Death in childhood |
OMIM:256150 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Ventricular septal defect, Bicuspid aortic valve, Abnormal hand morphology, Scleroti... |
ORPHA:371428 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormal... |
OMIM:608540 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... |
OMIM:614702 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac septum morphology... |
ORPHA:1937 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... |
ORPHA:98863 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Atrial sep... |
ORPHA:101028 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:605676 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Death in infancy, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlarg... |
OMIM:619424 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect, Single transverse palmar crease, Brachydactyly, Adducted thumb |
OMIM:620062 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ... |
OMIM:601927 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Pulmonic stenosis, Atrial septal defect, Abnormal 3r... |
OMIM:249670 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Familial Isolated Restrictive Cardiomyopathy |
|
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Premature birth, Aplasia/hypoplasia involv... |
ORPHA:40366 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio... |
OMIM:617021 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Secundum atrial septal def... |
OMIM:600987 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:860 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... |
ORPHA:391646 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... |
OMIM:142900 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Sandal gap, Short toe, Perimembranous ventricular septal defect, Transposition of the great arter... |
OMIM:617877 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear... |
ORPHA:398124 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... |
ORPHA:1354 |
Mulibrey Nanism |
|
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Congestive heart failure, Hydrops fe... |
OMIM:253250 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... |
ORPHA:57777 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased fetal movement, Hepatomegaly, Death in infancy, Edema, Perimembranous ventricular septa... |
OMIM:608104 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... |
ORPHA:90308 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Sandestig-Stefanova Syndrome |
|
Decreased fetal movement, Prominent metopic ridge, Rocker bottom foot, Muscular ventricular septa... |
OMIM:618804 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... |
ORPHA:163596 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Micromelia, Squared iliac bones, Flared metaphysi... |
OMIM:215045 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... |
ORPHA:1177 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Decreased fetal movement, Ventricular septal defect, Death in childhood |
OMIM:253300 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Death in infancy, Rocker bottom foot, Polyhydramnios, Tapered finger, P... |
OMIM:620070 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger |
ORPHA:2515 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Joint contracture of the 5th finger, Atrioventricular block |
OMIM:614407 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Fractured radius, Polyhydramnios, Cardiomegaly, Decreased... |
OMIM:616897 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Fanconi Anemia, Complementation Group Q |
|
Primum atrial septal defect, Absent thumb |
OMIM:615272 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect |
OMIM:270460 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Increased laxity of ankles... |
ORPHA:750 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension |
OMIM:619003 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Epiphyse... |
OMIM:256550 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... |
OMIM:607941 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... |
OMIM:613870 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... |
ORPHA:3405 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Craniofaciofrontodigital Syndrome |
|
Persistent fetal circulation, Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Overlapping toe, Muscular ventricular septal defect, Abnormal heart morpholo... |
ORPHA:363444 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Lymphedema, Pericardial effusion, Cardiomegaly... |
OMIM:239850 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... |
OMIM:616878 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... |
ORPHA:555874 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Hepatosple... |
OMIM:232500 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Congenital Disorder Of Glycosylation, Type Il |
|
Decreased fetal movement, Hepatomegaly, Edema, Pericardial effusion, Hip dislocation, Hepatosplen... |
OMIM:608776 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Decreased fetal movement, Bundle branch block, Premature birth, Polyhydramnios, First degree atri... |
ORPHA:589821 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... |
OMIM:615297 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Epiphyseal stippling, Ventricular septal defect, Death in infancy |
OMIM:614876 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Polyhydramnios... |
ORPHA:1263 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Hydrops fetalis, Limb ... |
ORPHA:2204 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, D... |
OMIM:620265 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n... |
ORPHA:1388 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Intri... |
OMIM:618569 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276556 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Ventricular septal defect, Hypertension, Short palm |
ORPHA:79094 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Kearns-Sayre Syndrome |
|
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block |
OMIM:530000 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Nemaline Myopathy 9 |
|
Breech presentation, Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence |
OMIM:615731 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... |
ORPHA:268 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Atrioventricu... |
ORPHA:93317 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Ventricular septal defect, Sandal gap, Hallux varus, Tapered finger, Heart murmur, Peri... |
OMIM:158170 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276575 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect |
ORPHA:1918 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardi... |
OMIM:620167 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276580 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, Adducted thum... |
OMIM:617022 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Postaxial ha... |
ORPHA:83473 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Anhydramnios, Polydactyly, Talipes equinovarus, Enlarged kidney |
OMIM:613885 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Polyhydramnios, Micromelia, Abnormal carpal morph... |
ORPHA:85166 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Mungan Syndrome |
|
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Palpitations |
OMIM:188580 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... |
OMIM:263630 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect |
OMIM:619143 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Patent ductus art... |
OMIM:619702 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect, Single transverse palmar crease |
OMIM:618354 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Mmep Syndrome |
|
Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Hypoplastic ilia, Breech presentation, Micromelia, Hydrops fetalis, Stillb... |
OMIM:600972 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Hypoplastic pubi... |
ORPHA:1865 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... |
ORPHA:292 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Fetal Gaucher Disease |
|
Hepatomegaly, Decreased fetal movement, Death in infancy, Fetal akinesia sequence, Splenomegaly, ... |
ORPHA:85212 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve ste... |
ORPHA:3449 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Cardiac conduction abnormality, Elbow flexion contractu... |
ORPHA:97244 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... |
ORPHA:329336 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy |
ORPHA:66634 |
Pseudoachondroplasia |
|
Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente... |
OMIM:177170 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomeg... |
ORPHA:36412 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Mitra... |
OMIM:620244 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Gitelman Syndrome |
|
Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to-normal blood pressure, Go... |
ORPHA:358 |
Developmental And Epileptic Encephalopathy 96 |
|
Death in infancy, Hydrops fetalis |
OMIM:619340 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Generalized amyotrophy... |
OMIM:602668 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
16P13.11 Microduplication Syndrome |
|
Arachnodactyly, Ventricular septal defect, Craniosynostosis, Hand polydactyly, Transposition of t... |
ORPHA:261243 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death |
OMIM:618839 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Splenomegaly, Congestive heart f... |
OMIM:230500 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Death in infancy, Secundum atrial septal defect, Splenomegaly, Congestive heart fai... |
OMIM:608779 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Tetralogy of Fallot, Supr... |
OMIM:618624 |
Okamoto Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphol... |
ORPHA:2729 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Portal hyperten... |
ORPHA:367 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Abnormality of the palmar creas... |
OMIM:618652 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... |
ORPHA:199241 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Tricuspid stenosis, Short middle phalanx of the 5th finger, Short middle phalanx ... |
ORPHA:391641 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Clinodactyly of the 5th finger, Decreased fetal movement, Ventricular septal defect, Single trans... |
OMIM:619717 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardio... |
OMIM:618835 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Ventricular septal defect, Sagittal craniosynostosis, Bowing of the legs, ... |
OMIM:617063 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Gitelman Syndrome |
|
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... |
OMIM:300280 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, L... |
OMIM:235510 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Pedal edema, Sinus bradycardia |
OMIM:126320 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary a... |
OMIM:616028 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Ventricular septal defect, Aplasia/Hypoplasia... |
OMIM:113000 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Muscle fi... |
ORPHA:449285 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Sotos Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Muscular ventricular septal defect, Long met... |
OMIM:117550 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... |
OMIM:614302 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl... |
OMIM:609015 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Ventricular septal defect, Polyhydramnios, Camptodactyly of finge... |
ORPHA:261344 |
Temple-Baraitser Syndrome |
|
Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pulmonic stenosis, Atrial... |
OMIM:611816 |
Desbuquois Syndrome |
|
Genu recurvatum, Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislocatio... |
ORPHA:1425 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
Trisomy 13 |
|
Ventricular septal defect, Postaxial hand polydactyly, Hydrops fetalis, Abnormal pelvic girdle bo... |
ORPHA:3378 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Premature birth, Camptodactyly of finger, Splenomegaly, Congestive hea... |
ORPHA:354 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... |
OMIM:615996 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Wolff-Parkinson-White syndrome |
ORPHA:261295 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Single t... |
OMIM:618870 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi... |
OMIM:620393 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Edema, Pericardial effusion, Clinodactyly, Cutaneous syndactyly, Talipes equinov... |
OMIM:617822 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Alg12-Cdg |
|
Premature birth, Sandal gap, Edema, Polyhydramnios, Ulnar deviation of the wrist, Long fingers, M... |
ORPHA:79324 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Microme... |
ORPHA:99776 |
Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... |
ORPHA:324 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... |
ORPHA:508498 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... |
OMIM:616589 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Premature birth, Polyhydram... |
ORPHA:2256 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Short metacarpal, Ventricular septal defect, Prematur... |
OMIM:616651 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand pol... |
OMIM:263520 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Proximal placement of thumb, Ab... |
ORPHA:1120 |
Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, ... |
OMIM:235200 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle w... |
OMIM:616479 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Ventricular hypertrophy, Bradycardia, Congestive heart failure |
OMIM:619048 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis... |
OMIM:613320 |
Monosomy 13Q34 |
|
Common atrium, Pulmonic stenosis |
ORPHA:96168 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Hydrops fetalis, Short foot, Short palm |
ORPHA:93299 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Congestive hea... |
OMIM:166210 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail... |
OMIM:269250 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate mor... |
OMIM:620294 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Hydrops fetalis, Short foot, Talipes equi... |
ORPHA:93298 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Death in childhood |
OMIM:613759 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the... |
ORPHA:2847 |
Alg9-Cdg |
|
Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... |
ORPHA:79328 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Lethal Congenital Contracture Syndrome 2 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy |
OMIM:607598 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Epistaxis, Abn... |
ORPHA:464329 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... |
ORPHA:555877 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Decreased fetal movement, Ventricular septal defect, Tarsal synostosis, Muscul... |
OMIM:157800 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Short thumb, Mitral valve prolapse, Mitral re... |
OMIM:612561 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy |
OMIM:610131 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Osteoarthritis, Pedal edema, Pulmonary arterial... |
ORPHA:77259 |
Mgat2-Cdg |
|
Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Reflex asystolic syncope, ... |
ORPHA:79329 |
16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites |
ORPHA:2123 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension, Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal heart morphology |
ORPHA:79264 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping finge... |
OMIM:616738 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:618234 |
Stiff-Person Syndrome |
|
Tachycardia, Proximal limb muscle stiffness, Hypertension, Asymmetric limb muscle stiffness, Axia... |
OMIM:184850 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Common atrium |
OMIM:225500 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Single transverse palmar crease, Short... |
OMIM:614947 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Lower limb muscle weakness |
OMIM:619737 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Irregular capital femoral ep... |
OMIM:616716 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension |
OMIM:619064 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, L... |
OMIM:300855 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Abnormal thumb morphology, Congestive hear... |
ORPHA:324410 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... |
OMIM:216100 |
Steinert Myotonic Dystrophy |
|
Decreased fetal movement, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic d... |
ORPHA:273 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Toe clinodactyly |
ORPHA:261120 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... |
ORPHA:69735 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, Short thumb, Ab... |
ORPHA:401935 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Knee flexion contracture, Atrial septal defect, Wrist flexion contracture,... |
OMIM:121050 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Miscarriage, Ventricular septal defect, Proxim... |
ORPHA:2438 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Micromelia |
ORPHA:932 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Congestive heart failure, Decreased muscle mass, Facial hypotonia |
ORPHA:500533 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Achondrogenesis, Type Ii |
|
Broad long bones, Polyhydramnios, Edema, Short tubular bones of the hand, Hydrops fetalis, Short ... |
OMIM:200610 |
Poems Syndrome |
|
Edema, Pericardial effusion, Metaphyseal sclerosis, Clubbing of fingers, Pulmonary arterial hyper... |
ORPHA:2905 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Car... |
ORPHA:3472 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Im... |
ORPHA:158687 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... |
OMIM:616843 |
Greenberg Dysplasia |
|
Polyhydramnios, Micromelia, Hydrops fetalis, Tetraphocomelia, Hypoplasia of the calcaneus, Neonat... |
OMIM:215140 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t... |
OMIM:600001 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmonic steno... |
OMIM:615355 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Patellar hypoplasia, Atrial septal de... |
OMIM:619189 |
Campomelia, Cumming Type |
|
Hepatomegaly, Death in infancy, Brachydactyly, Bowing of the long bones, Micromelia, Lymphedema, ... |
ORPHA:1318 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... |
ORPHA:79102 |
Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Abnormal placenta morphology, Flared iliac w... |
ORPHA:79255 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Double outlet right ventricle, Single umbilical artery, Hy... |
OMIM:220210 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hepatosplenomegaly,... |
OMIM:619487 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... |
OMIM:300887 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Abnormality of the upper limb, Ascites |
ORPHA:834 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect, Hip dislocation, Talipes equinovarus, Death in childhood |
OMIM:618651 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Ventricular septal defect, Single transverse palmar crease, Edema,... |
OMIM:618348 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Metatarsus adductus, Splenomegaly, Hydrops fetalis... |
OMIM:253220 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Aplasia/Hypopl... |
ORPHA:94066 |
Pediatric Systemic Lupus Erythematosus |
|
Edema, Pericardial effusion, Raynaud phenomenon, Arthritis, Pleural effusion, Ascites |
ORPHA:93552 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Hepatomegaly, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of th... |
ORPHA:1842 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Polyhydramnios, Bowing of the legs,... |
OMIM:200600 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Palmoplantar keratoderma, Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Long fingers, Increased nuchal translucency, Hypotension, At... |
OMIM:615668 |
Woods Syndrome |
|
3-4 finger cutaneous syndactyly, Limited elbow extension, Ventricular septal defect, Single trans... |
OMIM:615236 |
Congenital Myopathy 11 |
|
Decreased fetal movement, Polyhydramnios, Breech presentation, Atrial septal defect, Patent foram... |
OMIM:619967 |
Myhre Syndrome |
|
Vertebral fusion, Ventricular septal defect, Overlapping toe, Pericardial effusion, Clinodactyly,... |
OMIM:139210 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Limited elbow movement, Complete atrioventricular canal de... |
OMIM:151100 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia, ... |
ORPHA:185 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... |
OMIM:617974 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Aortic regurgitation |
OMIM:615476 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Clinodactyly of the 5th finger |
OMIM:618974 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... |
ORPHA:93672 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Tapered finger, Coxa valga, Perimembranous ventricular septal defect, ... |
OMIM:301040 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Hallux valgus, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus cal... |
ORPHA:536532 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... |
OMIM:143095 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... |
ORPHA:77261 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Decreased fetal movement, Ventricular septal defect |
OMIM:616816 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Premature rupture of membranes, ... |
OMIM:619573 |
Hereditary Coproporphyria |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia |
ORPHA:79273 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra... |
OMIM:607095 |
Alg8-Cdg |
|
Brachydactyly, Premature birth, Edema, Hydrops fetalis, Talipes equinovarus, Camptodactyly, Ascit... |
ORPHA:79325 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiph... |
ORPHA:93360 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Muscular ventricular septal defect |
OMIM:619227 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot |
OMIM:618506 |
Winchester Syndrome |
|
Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion,... |
OMIM:618183 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... |
OMIM:615351 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Death in infancy, Nonimmune hydrops fetalis, Edema, Pericardial effus... |
OMIM:212065 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short foot |
ORPHA:228399 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Acromesomelic Dysplasia 2A |
|
Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Capillary Malformation-Arteriovenous Malformation |
|
Nonimmune hydrops fetalis, Epistaxis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgi... |
OMIM:212140 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... |
ORPHA:85443 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
Refsum Disease |
|
Short metacarpal, Heart block, Splenomegaly, Cardiomyopathy, Hammertoe, Abnormal epiphysis morpho... |
ORPHA:773 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Death in infancy, Finger syndactyly, Hallux valgus, Ventricular septal defect,... |
ORPHA:2008 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... |
OMIM:616866 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n... |
OMIM:608154 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Sagittal craniosynostosis, Lambdoidal ... |
OMIM:314320 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion |
ORPHA:1666 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, S... |
ORPHA:781 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Chromosome 2Q37 Deletion Syndrome |
|
Short fourth metatarsal, Short metacarpal, Short toe, Subvalvular aortic stenosis, Arrhythmia, Sh... |
OMIM:600430 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg... |
OMIM:614008 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Ankle swelling, Wrist swelling, Hypertension, Osteolysis involving t... |
OMIM:166300 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Prominent fingertip pads, Brachydactyly, Mesoaxial foot polydactyly, Bicusp... |
OMIM:612474 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly |
OMIM:613011 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Atrial septal ... |
OMIM:201000 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Joint contracture of the hand, Clinodactyly of the 5th finger, Pulmoni... |
OMIM:179613 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Ventricular septal defect, Mitral regurgitation, Talipes equinovarus, Camptodacty... |
OMIM:301039 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp... |
OMIM:274000 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ... |
OMIM:617478 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger |
OMIM:601355 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Preax... |
OMIM:618142 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Death in childhood |
OMIM:618321 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Abn... |
ORPHA:93267 |
Aase-Smith Syndrome I |
|
Slender finger, Death in infancy, Ventricular septal defect, Talipes equinovarus |
OMIM:147800 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood |
OMIM:614582 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Metopic suture patent to nasal root, Fifth finger distal phalanx clino... |
ORPHA:3369 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epip... |
OMIM:226980 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy |
OMIM:619322 |
Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Bradycardia |
ORPHA:228346 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy... |
OMIM:616730 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdomyolysis, Dilat... |
OMIM:614921 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Single umbilical artery, Ventricular septal defect, Hypoplastic left heart, Micromelia |
ORPHA:2772 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Ventricular septal defect, Death in infancy |
OMIM:613730 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Sh... |
OMIM:614851 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Talip... |
OMIM:614815 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Mitral valve prolapse, Mitral regurgitation, Short palm, Synostosis of carpal bones |
ORPHA:3238 |
Subaortic Stenosis-Short Stature Syndrome |
|
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Arrhythmia, Synostosis of ca... |
ORPHA:3191 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn... |
ORPHA:1225 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, At... |
ORPHA:581 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Arterial rupture |
OMIM:619115 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Gaucher Disease, Perinatal Lethal |
|
Decreased fetal movement, Hepatomegaly, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Metatarsus adductus, Splenomegaly, Hydrops fetalis, Epiphyseal stippling, Abnormal hi... |
ORPHA:584 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Premature birth, Cardiomegaly |
ORPHA:858 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Micromelia, Aplastic clavicle, Postaxial polydactyly, Preaxial polydactyly, Hydro... |
OMIM:616546 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Odontochondrodysplasia 1 |
|
Death in infancy, Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widen... |
OMIM:184260 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Cerebra... |
OMIM:617713 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Myocarditis, Congestive heart f... |
ORPHA:466677 |
Fumarase Deficiency |
|
Ascites, Bilateral fetal pyelectasis, Perimembranous ventricular septal defect, Polyhydramnios |
OMIM:606812 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Postaxial polydactyly, Knee flexion contracture, Mitral regurgitation,... |
OMIM:603387 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Pulmonic stenosis, Atrial septal defect |
OMIM:615102 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Hydrops fetalis |
ORPHA:88618 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Finger syndactyly, Toe syndactyly, Polyhydramnios |
ORPHA:261272 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation |
OMIM:619083 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Coxa valga, Splenomegal... |
OMIM:608149 |
Hyperoxaluria, Primary, Type I |
|
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication |
OMIM:259900 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Premature birth, Cerebral hemorrhage, Cardiomegaly, Hypertension |
OMIM:618886 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact... |
OMIM:272440 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Camptodactyly of fing... |
OMIM:602782 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela... |
OMIM:132400 |
Generalized Arterial Calcification Of Infancy |
|
Edema, Cardiomegaly, Polyhydramnios, Hydrops fetalis, Abnormal calcification of the carpal bones,... |
ORPHA:51608 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Polyhydramnios, Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibular epiphy... |
ORPHA:96190 |
Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Ventricular septal defect, Hydrops fetalis, Short palm |
ORPHA:268249 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Sagittal craniosynostosis, Patellar subluxati... |
OMIM:615879 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Polyhydramnios, Hypoplastic iliac wing, Prominent fingertip pads... |
OMIM:180849 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Syndactyly, Rhizomelia, Polyhydramnios, Craniosynostosis, Splenomegaly, Postaxial h... |
OMIM:613610 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy, Arachnodactyly |
ORPHA:93946 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe... |
OMIM:265380 |
Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:619149 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... |
OMIM:251450 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Death in infancy, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejec... |
OMIM:201475 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Portal hypertension, Ca... |
ORPHA:465508 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip... |
ORPHA:79106 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular... |
OMIM:252600 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Polydactyly |
OMIM:602501 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, La... |
OMIM:271640 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... |
ORPHA:435638 |
Larsen Syndrome |
|
Vertebral fusion, Short metacarpal, Ventricular septal defect, Spatulate thumbs, Elbow dislocatio... |
OMIM:150250 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Camptodactyly |
OMIM:619576 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... |
OMIM:609616 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap,... |
ORPHA:254346 |
3C Syndrome |
|
Death in infancy, Finger syndactyly, Ventricular septal defect, Abnormal mitral valve morphology,... |
ORPHA:7 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Atrial septal defect... |
ORPHA:921 |
Aymé-Gripp Syndrome |
|
Pericarditis, Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Peri... |
ORPHA:1272 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Polyhydramnios, Proximal placement of thumb, Absent radius, Hand pol... |
OMIM:314390 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Increased nuchal translucen... |
OMIM:618494 |
Alagille Syndrome 2 |
|
Atrial septal defect, Hypertension, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:610205 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... |
OMIM:600373 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ... |
ORPHA:896 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Overlapping toe, Polyhydramnios |
ORPHA:466926 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Mesoaxial hand polydactyly... |
ORPHA:46627 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Farber Disease |
|
Abnormality of the knee, Abnormality of the hand, Short toe, Abnormality of the elbow, Hydrops fe... |
ORPHA:333 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Edema, Hepatosplenomegaly, Abnormal heart morphology, Telangiectasia,... |
ORPHA:93400 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Polyhydramnios, Postaxial polydactyly, Preaxial polydactyl... |
OMIM:615503 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, 1... |
OMIM:617201 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hydrops fetalis, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium... |
OMIM:265000 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Short distal phalanx of finger |
ORPHA:85202 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Ventricular septal defect, Atrial septal defect, Clinodactyly, Patent foramen oval... |
OMIM:614261 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Large carpal bones, Finger clinodactyly, Radioulnar sy... |
ORPHA:99330 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... |
OMIM:614653 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Rhabdomyolysis, Hypotension |
ORPHA:43116 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Flared metaphysis, Elbow flexion contractur... |
OMIM:184252 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Premature birth, Postaxial polydactyly, Polyhydramnios, Fetal pericard... |
OMIM:219730 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... |
OMIM:300963 |
Coffin-Siris Syndrome 7 |
|
Brachydactyly, Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Sagittal cranios... |
OMIM:618027 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Faciocardiomelic Syndrome |
|
Common atrium |
OMIM:612731 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... |
OMIM:217085 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Tetralogy o... |
ORPHA:1913 |
X Small Rings |
|
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, Fetal pyelectas... |
ORPHA:96201 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... |
ORPHA:99827 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Tularemia |
|
Tachycardia |
ORPHA:3392 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5th finger, Atri... |
OMIM:619123 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Abnormal left ventricle mo... |
OMIM:300845 |
Cap Myopathy |
|
Reduced systolic function, Sinus tachycardia, Mitral valve prolapse |
ORPHA:171881 |
Acromesomelic Dysplasia, Grebe Type |
|
Death in infancy, Bowing of the long bones, Aplasia/Hypoplasia of the thumb, Brachydactyly, Tarsa... |
ORPHA:2098 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal ... |
ORPHA:85438 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger, Bilateral single t... |
ORPHA:2516 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atrial septal defect, Abnormal metaphysis ... |
ORPHA:290 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Alpha-Thalassemia |
|
Splenomegaly, Hydrops fetalis |
ORPHA:846 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cone-shaped ep... |
OMIM:615630 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... |
OMIM:619142 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Arachnodactyly, Sandal gap, Micromelia, Genu valgum, Atrial septal defect |
ORPHA:1035 |
Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Lymphedema, Pericardial effusion, S... |
ORPHA:2136 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Ulnar devi... |
ORPHA:2876 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... |
OMIM:619705 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Ventricular septal defect |
OMIM:214300 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Drumstick terminal phalanges, Death in childhood, Hypertrophic cardiom... |
OMIM:612938 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
OMIM:613673 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Small hand, Short foot, Brachydactyly |
OMIM:617450 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Death in infancy, Tapered toe, Cardiomegaly, Antenatal intracerebral hemo... |
OMIM:608836 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... |
OMIM:305620 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Hydrops fetalis |
ORPHA:766 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Short metatarsal, Hy... |
OMIM:216340 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Abnormal hip bone morphology |
ORPHA:1166 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,... |
OMIM:616564 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... |
OMIM:259600 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Short distal ph... |
OMIM:620073 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Joint dislocation, Tricuspid regurgitation, Abnorm... |
ORPHA:230851 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale |
OMIM:615539 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... |
ORPHA:505248 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 5th finger, Clinodact... |
ORPHA:521308 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo... |
ORPHA:2879 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia |
ORPHA:139411 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Prominent fingertip pads, Prominent metopic ridge, Bicuspid aortic valve, Arachnodactyly, Postaxi... |
OMIM:619721 |
Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Nonimmune hydrops fetalis, Craniosynostosis, Brachydactyly |
OMIM:618265 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia... |
ORPHA:404443 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Death in infancy, Bilateral fetal pyelectasis, Hip contracture, Polyhydramnios, Bre... |
OMIM:300868 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Multiple joint dislocation, Knee dislocation, Shoulder dislo... |
OMIM:245600 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Single transverse palmar crease, Slender finger... |
ORPHA:329224 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
ORPHA:42 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hematemesis, Vasculitis, Hematochezia, H... |
OMIM:615846 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Ventricular septal defect, Single transverse palmar crease, ... |
ORPHA:1692 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Long fingers, Cutan... |
OMIM:618316 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Hepatomegaly, Ventricular septal defect, Joint dislocation |
OMIM:620210 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage, Subconjunc... |
ORPHA:509 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Wrinkly Skin Syndrome |
|
Scapular winging, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Muscula... |
OMIM:278250 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Premature birth, Rhizomelia, Polyhydramnios, Aplastic... |
ORPHA:50945 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Polyhydramnios, Micromelia, Hypoplastic ilia, Abnormal sac... |
ORPHA:1860 |
Ogden Syndrome |
|
Ventricular septal defect, Broad hallux, Cardiogenic shock, Arrhythmia, Delayed cranial suture cl... |
ORPHA:276432 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Rett Syndrome |
|
Skeletal muscle atrophy, Prolonged QTc interval, Abnormal T-wave |
OMIM:312750 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect |
OMIM:245552 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Hepatomegaly, R... |
ORPHA:175 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finge... |
ORPHA:3306 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th m... |
OMIM:169400 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Single umbilical arter... |
ORPHA:210122 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Martsolf Syndrome 1 |
|
Short metacarpal, Cardiac arrest, Metatarsus adductus, Congestive heart failure, Short toe, Osteo... |
OMIM:212720 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Rhizomelia, Iliac c... |
ORPHA:239 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Tricuspid regurgitation, Short femur, Cardiomegaly, Talipes equinovar... |
OMIM:620306 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertension, Mitral valve ... |
OMIM:620233 |
Al-Raqad Syndrome |
|
Atrial septal defect, Sandal gap, Brachydactyly |
OMIM:616459 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Telangiectasia, Atrial... |
OMIM:606003 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Oligohydramnios, Dehydration, Hip dysplasia, Atrial ... |
OMIM:208085 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Single transverse palmar crease, 2-3 toe syndactyly, Clubbing of toes, Clubbing... |
ORPHA:3304 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Cardiomegaly |
ORPHA:3137 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Polydactyly, Atrial septal defect, Cl... |
OMIM:618950 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... |
OMIM:617403 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Epiphyseal dysplasia, Tricuspid regurgitation, Sinus tachycardia, Splenomegaly, Met... |
OMIM:253200 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... |
OMIM:617895 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger, Atrial se... |
ORPHA:352490 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Single umbilical artery, Ventricular septal defect |
OMIM:617635 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Polyhydramnios, Wrist swelling, Slender long bone, Metacarpal osteolysis... |
ORPHA:2774 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... |
OMIM:614823 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Foot oligodactyly |
OMIM:601357 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thickened nuchal skin fold, Ventricular septal defect, Short 5th finger, Clinodactyly of the 5th ... |
OMIM:220500 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, Arrhythmia, EMG: myopathic abnormalities |
ORPHA:480864 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Polyhydramnios, Craniosynostosis, Co... |
OMIM:301056 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Palmar telangiectasia, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral ... |
OMIM:607823 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Ventricular septal defec... |
ORPHA:505237 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Short toe, Cutaneous syndact... |
OMIM:617667 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Small hand, Talipes equinovarus, Camptodactyly,... |
OMIM:619980 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the... |
OMIM:619135 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Polyhydramnios, Edema, Mesomelic/rhizomelic limb s... |
ORPHA:2347 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Tapered finger, Abnormal cardiac ventricle morphology, Abnormal limb bone morpholo... |
ORPHA:261311 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... |
OMIM:620269 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Bilateral single transverse palmar creas... |
OMIM:619657 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Gaucher Disease |
|
Joint dislocation, Hepatomegaly, Mitral valve calcification, Death in infancy, Abnormal heart val... |
ORPHA:355 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Long fingers, Hip dislocation, Hip dysplasia, Pulmonary arterial hyper... |
ORPHA:447980 |
Beck-Fahrner Syndrome |
|
Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation an... |
ORPHA:2345 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... |
ORPHA:284169 |
Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Tachycardia, Hypertension |
ORPHA:79473 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Single transverse palm... |
OMIM:618619 |
Galactosialidosis |
|
Conjunctival telangiectasia, Visceromegaly, Nonimmune hydrops fetalis, Hepatosplenomegaly |
OMIM:256540 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Postaxial hand polydactyly, Ventricular se... |
ORPHA:2519 |
Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... |
OMIM:610797 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... |
ORPHA:79282 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Cubitus valgu... |
OMIM:610733 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Ventricular septal defect, Polyhydramnios, Abnormal heart morphology |
ORPHA:254534 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Arrhythmia, Patent foramen ovale |
OMIM:619184 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Hypoplastic left heart, Apical muscular ventricular ... |
OMIM:301022 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, 2-3 toe syndactyl... |
ORPHA:477817 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Premature birth, Craniosynostosis, Splenomegaly, Congestive he... |
ORPHA:525731 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi... |
OMIM:619762 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cardio... |
OMIM:605275 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Short 5th finger, Ac... |
ORPHA:500159 |
Congenital Myopathy 22B, Severe Fetal |
|
Decreased fetal movement, Hepatomegaly, Scapular winging, Hip contracture, Nonimmune hydrops feta... |
OMIM:620369 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... |
OMIM:615156 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Heart murmur |
ORPHA:2728 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Talipes equinovarus, Atrial septal defect,... |
ORPHA:2970 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Ventricular septal defect, Craniosynostosis, Metaphyseal chondro... |
ORPHA:166035 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydac... |
OMIM:611134 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... |
ORPHA:99050 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Death in childhood, Hepatomegaly, Split hand, Flat acetabular... |
OMIM:252500 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Overlapping toe, Down-sloping shoulders, Tapered finger, Talipes equin... |
OMIM:617452 |
Congenital Disorder Of Glycosylation, Type Iil |
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Hepatomegaly, Peau d'orange, Death in infancy, Ventricular septal defect, Postaxial polydactyly, ... |
OMIM:614576 |
Down Syndrome |
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Prenatal double bubble sign, Single transverse palmar crease, Short palm, Hypoplastic iliac wing,... |
OMIM:190685 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Prolonged QT interval, Short palm, Scapular winging, Short metacarpal, Toe syndactyly, Bidirectio... |
OMIM:170390 |
Codas Syndrome |
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Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Abnormal pelvic girdle b... |
ORPHA:1458 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Multiple Synostoses Syndrome 1 |
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Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
Emanuel Syndrome |
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Thickened nuchal skin fold, Decreased fetal movement, Congenital hip dislocation, Ventricular sep... |
OMIM:609029 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
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Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Mogs-Cdg |
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Hepatomegaly, Pulmonary edema, Polyhydramnios, Edema, Cardiomegaly, Hepatosplenomegaly, Atrial se... |
ORPHA:79330 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Broad toe, Ventricular septal defect, Rocker bottom foot, Telangiectasia, Short 2nd toe, Hip dysp... |
OMIM:612582 |
Filippi Syndrome |
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Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,... |
ORPHA:3255 |
Porphyria, Acute Intermittent |
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Hypertension, Tachycardia |
OMIM:176000 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Hepatomegaly, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Contracture of th... |
ORPHA:83617 |
Burn-Mckeown Syndrome |
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Atrial septal defect, Ventricular septal defect, 2-3 toe syndactyly |
OMIM:608572 |
Bacterial Toxic-Shock Syndrome |
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Shock, Myositis, Tachycardia, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
Costello Syndrome |
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Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Uln... |
ORPHA:3071 |
Atelis Syndrome 1 |
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Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Prox... |
ORPHA:280365 |
Pearson Syndrome |
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Hepatomegaly, Cardiac conduction abnormality, Splenomegaly, Hydrops fetalis, Dehydration, Abnorma... |
ORPHA:699 |
Kapur-Toriello Syndrome |
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Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Short thumb,... |
OMIM:244300 |
Noonan Syndrome 9 |
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Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
C Syndrome |
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Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Postaxial ... |
OMIM:211750 |
Insulin-Like Growth Factor I, Resistance To |
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Ventricular septal defect, Sandal gap, Small hand, Short foot, Short finger, Radial deviation of ... |
OMIM:270450 |
Meckel Syndrome, Type 7 |
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Portal hypertension, Situs inversus totalis, Hepatosplenomegaly, Postaxial foot polydactyly, Righ... |
OMIM:267010 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Atrial septal defect |
OMIM:620211 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... |
OMIM:618395 |
Distal 22Q11.2 Microdeletion Syndrome |
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Aortic regurgitation, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Premat... |
ORPHA:261330 |
Ophthalmomandibulomelic Dysplasia |
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Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln... |
ORPHA:2741 |
Warsaw Breakage Syndrome |
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Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Clinodactyly of t... |
OMIM:613398 |
Developmental And Epileptic Encephalopathy 90 |
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Atrial septal defect, Limb hypertonia |
OMIM:301058 |
Hypoplastic Left Heart Syndrome 2 |
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Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Cholera |
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Hypovolemic shock, Miscarriage, Tachycardia, Hypotension |
ORPHA:173 |
Megalencephaly |
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Atrial septal defect |
ORPHA:2477 |
Dohle Bodies And Leukemia |
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Secundum atrial septal defect |
OMIM:223350 |
Short-Rib Thoracic Dysplasia 12 |
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Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Polyhydramnios, Edema, Bowing of t... |
OMIM:269860 |
Mesomelia-Synostoses Syndrome |
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Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h... |
ORPHA:2496 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
Cooper-Jabs Syndrome |
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Camptodactyly of finger, Ventricular septal defect, Abnormal hip bone morphology, Proximal placem... |
ORPHA:1488 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pericardial effusion, Splenomegaly, Clubbing, Arthritis, Pulmonary arterial hyperte... |
OMIM:181000 |
Sarcoidosis |
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Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block, Ventricula... |
ORPHA:797 |
Tsh-Secreting Pituitary Adenoma |
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Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Congenital Total Pulmonary Venous Return Anomaly |
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Tachycardia, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Car... |
ORPHA:99125 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Graft Versus Host Disease |
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Skeletal muscle atrophy, Myositis, Tachycardia, Dupuytren contracture |
ORPHA:39812 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Persistent fetal circulation, Prominent fingertip pads, Tricuspid regurgitation, Sandal gap, Dysp... |
OMIM:612863 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Ventricular septal defect, Bilateral single transverse palmar creases, Large hands, Broad thumb, ... |
ORPHA:1770 |
17Q23.1Q23.2 Microdeletion Syndrome |
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Long toe, Coxa magna, Sandal gap, Long fingers, Patellar hypoplasia, Clinodactyly of the 5th fing... |
ORPHA:261279 |
15Q11.2 Microdeletion Syndrome |
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Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect |
ORPHA:75389 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly... |
OMIM:620113 |
Non-Functioning Paraganglioma |
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Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Tachycardia |
ORPHA:263455 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Syndactyly, Ventricular septal defect, Abnormality of the hand, Abnormal heart morphology, Campto... |
ORPHA:369891 |
Developmental And Epileptic Encephalopathy 102 |
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Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Teebi Hypertelorism Syndrome 1 |
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Ventricular septal defect, Sagittal craniosynostosis, Small hand, Broad palm, Single umbilical ar... |
OMIM:145420 |
Fanconi Anemia, Complementation Group I |
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Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the rad... |
OMIM:609053 |
Renal Agenesis |
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Hypertension, Ventricular septal defect, Talipes equinovarus, Oligohydramnios |
ORPHA:411709 |
Chromosome 8Q22.1 Duplication Syndrome |
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Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Fetal Akinesia Deformation Sequence 1 |
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Decreased fetal movement, Hip contracture, Ulnar deviation of the hand, Premature birth, Nonimmun... |
OMIM:208150 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Hip contracture, Coxa valga, Advanced ossification of carpal bones, Flattened epiphysis, Genu val... |
OMIM:618363 |
Alagille Syndrome |
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Hepatomegaly, Hypoplasia of the ulna, Telangiectasia of the skin, Ventricular septal defect, Hype... |
ORPHA:52 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Splenomegaly, Hepatomegaly, Hydrops fetalis, Syndactyly |
OMIM:224120 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Death in infancy, Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Verheij Syndrome |
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Vertebral fusion, Truncus arteriosus, Ventricular septal defect, Hip dislocation, Short 5th finge... |
OMIM:615583 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Atrial septal defect, Pulmonary arterial hypertension |
OMIM:614857 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Vertebral fusion, Hip contracture, Ventricular septal defect, Tarsal synostosis, Multiple pterygi... |
OMIM:178110 |
Hajdu-Cheney Syndrome |
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Ventricular septal defect, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ... |
OMIM:102500 |
Microcephalic Primordial Dwarfism, Dauber Type |
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Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ... |
ORPHA:319675 |
Chédiak-Higashi Syndrome |
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Epistaxis, Edema, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Pleural effusion |
ORPHA:167 |
Hamamy Syndrome |
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Long toe, Syndactyly, Prolonged QRS complex, Down-sloping shoulders, Craniosynostosis, Tapered fi... |
OMIM:611174 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Atrial septal defect, Pulmonic stenosis |
OMIM:618282 |
Diamond-Blackfan Anemia |
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Ventricular septal defect, Nonimmune hydrops fetalis, Absent thumb, Short thumb, Partial duplicat... |
ORPHA:124 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Tricuspid regurgitation, Ventricular septal defect, Right bundle branch block, Mitral regurgitati... |
OMIM:617506 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
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Death in infancy, Ventricular septal defect, Sagittal craniosynostosis, Death in childhood |
OMIM:616901 |
Desbuquois Dysplasia 2 |
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Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne... |
OMIM:615777 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
Recessive Mitochondrial Ataxia Syndrome |
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ST segment elevation |
ORPHA:94125 |
Dyggve-Melchior-Clausen Disease |
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Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
2Q31.1 Microdeletion Syndrome |
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Finger syndactyly, Prominent metopic ridge, Broad hallux phalanx, Ventricular septal defect, Abno... |
ORPHA:251014 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Ankle clonus, Brachydactyly, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Short Stature-Micrognathia Syndrome |
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Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 ... |
OMIM:617164 |
Ellis Van Creveld Syndrome |
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Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Micromelia, Situs inver... |
ORPHA:289 |
Stankiewicz-Isidor Syndrome |
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Ventricular septal defect, Absent thumb, Short thumb, 2-3 toe syndactyly, Truncus arteriosus |
OMIM:617516 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Seckel Syndrome 9 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Talipes equinovarus, Atrial ... |
OMIM:616777 |
Noonan Syndrome 7 |
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Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Mosaic Trisomy 16 |
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Syndactyly, Ventricular septal defect, Premature birth, Single transverse palmar crease, Large pl... |
ORPHA:1708 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Death in infancy, Ventricular septal defect, Camptoda... |
ORPHA:373 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Single transverse palmar crease, Rhizomelia, Cra... |
OMIM:614114 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Hip dysplasia, Right ventricular hyper... |
OMIM:613404 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Syndactyly, Prominent metopic ridge, Ventricular septal defect, Overlapping to... |
OMIM:605039 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Ventricular septal defect, Sand... |
OMIM:607323 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia morphology, Split hand... |
ORPHA:1335 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Enlarged joints, Sandal gap, Abnormal pelvis bone morphol... |
ORPHA:1427 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm... |
ORPHA:94093 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Ventricular septal defect, Single transverse palmar crease, Sandal gap, Tapered... |
OMIM:617061 |
Atelosteogenesis Type Ii |
|
Polyhydramnios, Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha... |
ORPHA:56304 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, 2-3 toe syndactyly, Sin... |
OMIM:261990 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Single transverse palmar crease... |
OMIM:610759 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Primary Hyperoxaluria |
|
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication |
ORPHA:416 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Abnormal EKG, Premature birth, Miscarriage, Myocarditis, Splenomegaly... |
ORPHA:3385 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Ventricular septal defect, Tapered finger, Flat acetabular roof, Fused cervical ve... |
OMIM:617159 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c... |
ORPHA:2463 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Limited knee fl... |
OMIM:258315 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Postaxial hand polydactyly, Post... |
ORPHA:2473 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Telangiectasia of extensor surfaces, Faci... |
OMIM:137940 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Ventricular septal defect, Polyhydram... |
OMIM:235255 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Knee flexion contracture, B... |
OMIM:617402 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar muscle atrophy, Flat capital fe... |
OMIM:612350 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope |
ORPHA:230 |
Rh Deficiency Syndrome |
|
Tachycardia, Miscarriage |
ORPHA:71275 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Broad palm, Mitral regurgitation, Pulmonic stenosis, Broad phalanges o... |
OMIM:277600 |
Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... |
OMIM:615222 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
Dysosteosclerosis |
|
Abnormal metaphysis morphology, Ventricular septal defect, Coarse metaphyseal trabecularization |
ORPHA:1782 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:1923 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Hypertrophic cardiomyopathy, A... |
ORPHA:251071 |
Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Hand... |
OMIM:616920 |
Axial Spondylometaphyseal Dysplasia |
|
Iliac crest serration, Proximal femoral metaphyseal irregularity, Upper limb undergrowth, Coxa va... |
ORPHA:168549 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... |
OMIM:614613 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Emanuel Syndrome |
|
Decreased fetal movement, Congenital hip dislocation, Ventricular septal defect, Truncus arterios... |
ORPHA:96170 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:619383 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Shortening of all dis... |
OMIM:616202 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Death in childhood |
OMIM:268800 |
Acute Intermittent Porphyria |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia, Hy... |
ORPHA:79276 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Calf m... |
OMIM:253800 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... |
OMIM:180870 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis |
OMIM:614300 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... |
ORPHA:503 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Micromelia, Situs ... |
ORPHA:1908 |
King-Denborough Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Breech presentation |
OMIM:619542 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, P... |
OMIM:300998 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall... |
ORPHA:2710 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Pontocerebellar Hypoplasia, Type 8 |
|
Talipes valgus, Ventricular septal defect, Patent foramen ovale, Talipes equinovarus |
OMIM:614961 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:615502 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia |
OMIM:223900 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Postaxial polydactyly, 2-3 toe syndactyly, Abnormal heart morphology, ... |
ORPHA:404440 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval |
ORPHA:94090 |
Pde4D Haploinsufficiency Syndrome |
|
Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth, Cone-shaped ... |
ORPHA:439822 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... |
OMIM:618914 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Absent thumb, ... |
ORPHA:96097 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Atrial septal ... |
OMIM:610536 |
Chromosome 18Q Deletion Syndrome |
|
Toe syndactyly, Absence of the pulmonary valve, Ventricular septal defect, Proximal placement of ... |
OMIM:601808 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy |
OMIM:619121 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping fingers, Ventricular septal defect, Single transverse palmar creas... |
ORPHA:464738 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Femoral bowing, Tibial bowing, Knee flexion con... |
OMIM:601559 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... |
ORPHA:365 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Ventricular septal defect, Single transverse palmar crease, Low APGAR score |
ORPHA:79243 |
Mucopolysaccharidosis-Plus Syndrome |
|
Congestive heart failure, Flexion contracture, Macroglossia, Death in childhood, Atrial septal de... |
OMIM:617303 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, Abnormal finger morphology, Ra... |
ORPHA:436003 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Broad thumb, Brachydactyly |
OMIM:614526 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Fetal akin... |
OMIM:618143 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
Wiedemann-Steiner Syndrome |
|
Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Short toe, Small ... |
OMIM:605130 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Clinodactyly of the 5th finger, Tal... |
OMIM:616652 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Neonatal dea... |
OMIM:601186 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Wormian bones, Ventricular septal defect, Delayed cranial suture closur... |
OMIM:249420 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Camptodactyly |
ORPHA:459061 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short ph... |
OMIM:616894 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Postaxial polydactyly |
OMIM:614424 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Craniosynostosis, Metaphyseal... |
OMIM:250410 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe cli... |
ORPHA:217346 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:610338 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Short hallux, Campt... |
ORPHA:90652 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Hepatomegaly, Death in infancy, Tricuspid regurgitation, Ventricular septal... |
OMIM:614866 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Calcaneal epiphyseal stippling, Abnormal ossification involving the fe... |
ORPHA:79345 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Sagittal craniosynostosis, Left unilambdoid synostosis... |
OMIM:609942 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Congestive heart failure, Short metatarsal, Broad pa... |
OMIM:608328 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Echogenic intracardiac focus, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Ventricular septal defect, Polyhydramnios, Hematochezia, Congenital pulmonary a... |
OMIM:243150 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Absent thumb, Bilateral radial aplasia, Single umbil... |
OMIM:300514 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Bent Bone Dysplasia Syndrome 2 |
|
Thickened nuchal skin fold, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowin... |
OMIM:620076 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Hypertension, Pulmonary arterial hypertension |
OMIM:613834 |
Cohen Syndrome |
|
Decreased fetal movement, Finger syndactyly, Ventricular septal defect, Arachnodactyly, Sandal ga... |
ORPHA:193 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Diaphragmatic eventration |
OMIM:617808 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Mitral regurgitation, Patent foramen ovale |
OMIM:225250 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left ... |
OMIM:100300 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Atrial septal def... |
OMIM:616449 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... |
ORPHA:99646 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Ventricular septal defect |
OMIM:610832 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect |
OMIM:619909 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
Transketolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:488618 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Tapered finger, Short toe, Abnormal heart morphology, Delayed ossification of carpal bones, Short... |
OMIM:239300 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Dilated ... |
ORPHA:254892 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect, Craniosynostosis, Brachydactyly |
ORPHA:457193 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Periorbital edema, Myocar... |
ORPHA:221 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
Cat Eye Syndrome |
|
Ventricular septal defect, Absent radius, Hypoplastic left heart, Total anomalous pulmonary venou... |
OMIM:115470 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Conotruncal d... |
ORPHA:3097 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Cardiomegaly, Bilateral... |
ORPHA:97297 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension |
OMIM:619758 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral bowing, Pre... |
OMIM:616723 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Fetal akinesia sequence, Micromelia, Calcaneovalgus deformity, Neonatal death, Pt... |
OMIM:256520 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... |
OMIM:157900 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... |
ORPHA:163979 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular... |
OMIM:618162 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Ventricular septal defect |
ORPHA:452 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Finger syndactyly, Ventricular septal defect, Polyhydramnios, 2-3 toe syndactyly, A... |
OMIM:620025 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Facial hypotonia |
OMIM:611087 |
Noonan Syndrome 13 |
|
Atrial septal defect, Mitral regurgitation, Mitral valve prolapse |
OMIM:619087 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Keutel Syndrome |
|
Miscarriage, Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, S... |
OMIM:245150 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Part... |
OMIM:270100 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Ventricular septal defect, Arachnodactyly, Osteoarthritis, Increased arm span, ... |
OMIM:615582 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Postaxial hand p... |
OMIM:264480 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Steel Syndrome |
|
Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte... |
OMIM:615155 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Dilated cardiomyopathy, Mitral regurgitat... |
ORPHA:261250 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Abnormal heart morpho... |
ORPHA:2209 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal defect, Bilate... |
ORPHA:1507 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Single interphalangeal crease of fifth fi... |
OMIM:257920 |
Diabetic Embryopathy |
|
Single umbilical artery, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:1926 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Mitral valve prolapse... |
ORPHA:444072 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Ventricular septal defect, Short toe, Clinodactyly of the 5th finger, Atrial s... |
ORPHA:1519 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow... |
OMIM:207410 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... |
ORPHA:79280 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Camptodactyly of finger |
ORPHA:776 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Clinodactyly |
OMIM:617360 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect, Atrial septal... |
OMIM:309520 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Ventricular septal defect, Premat... |
OMIM:154400 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Premature birth, Cardiomegaly, Partial anomalous pulmonary venous retu... |
ORPHA:95430 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Epistaxis |
ORPHA:293939 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morp... |
ORPHA:457279 |
Distal Deletion 19P |
|
Long toe, Arachnodactyly, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve at... |
ORPHA:96129 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Tapered finger, Increased femoral anteversion, S... |
OMIM:609460 |
Rere-Related Neurodevelopmental Syndrome |
|
Hip dysplasia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... |
OMIM:300967 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale |
OMIM:618821 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Overlapping toe, Lower extremity joint dislocation, Double outlet righ... |
ORPHA:163956 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delayed ossification... |
ORPHA:93346 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Camptodactyly of toe |
ORPHA:251038 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Advanced ossificati... |
OMIM:224400 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
Koolen-De Vries Syndrome |
|
Prominent fingertip pads, Vertebral fusion, Prominent metopic ridge, Ventricular septal defect, B... |
OMIM:610443 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Brachydactyly, Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse p... |
OMIM:617425 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Ventricular septal defect, Abnorma... |
ORPHA:2092 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly |
OMIM:603903 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Ventricular septal defect, Sandal gap, Clinodactyly of the 5th finger, Camptodact... |
OMIM:617602 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Hepatomegaly, Nonimmune hydrops fetalis |
OMIM:266200 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect, Premature birth, Sandal gap, Abnormality of prenatal development or bi... |
OMIM:619229 |
Zellweger Syndrome |
|
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Ventricular septal defect, Premature ... |
ORPHA:912 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect |
OMIM:218350 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem... |
ORPHA:1772 |
Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Ventricular septa... |
OMIM:134780 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Broad hallux, Ventricular septal defect, Slender finger, Small hand, Tib... |
ORPHA:251028 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patellar aplasia, Clinodactyly of the 5th fin... |
ORPHA:96167 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Split hand, Clubbing, Death in childhood, Tetralogy of Fallot |
OMIM:600460 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Polyhydramnios, Narrow greater sciatic notch, Short phalanx of finger, Br... |
ORPHA:508533 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve |
OMIM:615009 |
Feingold Syndrome 1 |
|
Decreased fetal movement, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Short th... |
OMIM:164280 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Polyhydramnios, Tibial bowing, Hypoplastic iliac wing, Atrial se... |
ORPHA:96334 |
Limb Body Wall Complex |
|
Duplication of hand bones, Ventricular septal defect, Broad hallux, Aplasia/hypoplasia involving ... |
ORPHA:2369 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Deep palmar crease, Pulmonic ste... |
OMIM:607721 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatomegaly, Sho... |
OMIM:312870 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Encephalocele, Patent ductus arteriosus |
ORPHA:93274 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Talipes equinovarus, Atria... |
ORPHA:261236 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Polyhydramnios, Micromelia, Short metata... |
OMIM:600383 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand... |
OMIM:146510 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Craniosynostosis, Valvula... |
OMIM:300707 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, ... |
OMIM:616145 |
Radio-Tartaglia Syndrome |
|
Brachydactyly, Ventricular septal defect, Fetal distress, Tapered finger |
OMIM:619312 |
Thanatophoric Dysplasia |
|
Atrial septal defect |
ORPHA:2655 |
Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Placental abruption, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 fin... |
OMIM:603467 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:618109 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Prominent metopic ridge, Ventricular septal defect, 2-3 toe syndactyly, Pulmonic steno... |
ORPHA:488632 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Tachycardia, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Joint contracture of the hand, Camptodactyly |
OMIM:611961 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Premature birth, Absent thumb, Hypoplastic ilia, C... |
OMIM:105650 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Postaxial hand polydactyly... |
ORPHA:1655 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... |
OMIM:148820 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-s... |
OMIM:208500 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa... |
OMIM:620099 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Myopathy With Extrapyramidal Signs |
|
Splenomegaly, Hepatomegaly, Ventricular septal defect |
OMIM:615673 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Splenom... |
OMIM:256040 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dehydration, Abnormal placenta morphology,... |
ORPHA:96191 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy,... |
OMIM:610505 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Splenomegaly, Vasculitis, Hydrops fetalis, Arthritis |
ORPHA:3261 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Marshall-Smith Syndrome |
|
Hallux valgus, Prominent fingertip pads, Wormian bones, Ventricular septal defect, Bullet-shaped ... |
OMIM:602535 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Small hand, Short foot, Clinodactyly of the 5th finger, Short palm, At... |
OMIM:300712 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Craniosynostosis, Incr... |
ORPHA:453499 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Orofaciodigital Syndrome V |
|
Ventricular septal defect, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... |
OMIM:174300 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Premature osteoarthritis, Flared metap... |
OMIM:215150 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect |
OMIM:123700 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Prominent interphalangeal joints, Short phalanx of the... |
OMIM:614609 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis |
OMIM:615802 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Tapered finger, Ankle flexion co... |
ORPHA:464311 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Ventricular septal defect, Talipes equinovarus, 3-4 finger cutaneous syndactyly |
OMIM:612530 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Limb joint contracture, Patent foramen ovale, Limb hypertonia |
OMIM:620327 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Hydrops fetalis, Dehydration, Death in childhood |
OMIM:557000 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect |
OMIM:613680 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar cr... |
OMIM:214100 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Qazi-Markouizos Syndrome |
|
Delayed ossification of carpal bones, Tapered finger |
ORPHA:3010 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Arachnodactyly, Polyhydramnios, Delayed closure of the anterior fontan... |
OMIM:300373 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat... |
OMIM:615349 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal heart morphology, Melena, Hematochezia, Intestinal bleeding... |
ORPHA:79076 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor... |
ORPHA:466650 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis |
OMIM:300867 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Polyhydramnios, Edema, Squared iliac bones, Hypoplastic pubic bone,... |
OMIM:258480 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis |
ORPHA:2010 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Talipes equinovarus, Arrhythmia, Tetralogy of F... |
ORPHA:261494 |
Hereditary Elliptocytosis |
|
Splenomegaly, Hydrops fetalis |
ORPHA:288 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Avascular necrosis... |
OMIM:222470 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... |
ORPHA:209905 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phal... |
ORPHA:97360 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:614846 |
Spondyloocular Syndrome |
|
Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Lymphedema, Long fingers, Mitral valve... |
OMIM:605822 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Portal hypertension, Situs inversus totalis, Neonatal death, Atrial septal defect, Aortic valve s... |
OMIM:208540 |
Oligomeganephronia |
|
Secundum atrial septal defect, Hypertension, Congenital diaphragmatic hernia |
ORPHA:2260 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Palmoplantar keratoderma, Ventricular septal defect, 2-3 toe syndactyly |
OMIM:106260 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Coronary artery fistula, Neonatal death, Metopic synostosis, Atrial se... |
OMIM:620024 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Long fingers, Coronary artery fistula, Abnormal cardiac ... |
OMIM:614294 |
Al Kaissi Syndrome |
|
Atrial septal defect, Torticollis |
OMIM:617694 |
Fg Syndrome Type 1 |
|
Atrial septal defect, Pulmonary arterial hypertension, Progressive flexion contractures, Mitral v... |
ORPHA:93932 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital pulmonary airway malformation, Oligohydramnios |
OMIM:611812 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Anomalous pulmonary venous return, Cervical C2/C3 verteb... |
OMIM:616368 |
Trichohepatoneurodevelopmental Syndrome |
|
Decreased fetal movement, Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnio... |
OMIM:618268 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger |
OMIM:164200 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia |
OMIM:619699 |
Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... |
OMIM:242840 |
Jacobsen Syndrome |
|
Death in infancy, Broad hallux phalanx, Finger syndactyly, Ventricular septal defect, Premature b... |
ORPHA:2308 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Aortic regurgitation |
OMIM:620072 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Sagittal craniosynostosis, Limit... |
ORPHA:221120 |
Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... |
ORPHA:3474 |
Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Knee flexion contra... |
ORPHA:3103 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hallux valgus, Toe syndactyly, Ventricular septal defect, Arachnodactyly, P... |
ORPHA:464306 |
Fryns Syndrome |
|
Prominent fingertip pads, Ventricular septal defect, Single transverse palmar crease, Polyhydramn... |
OMIM:229850 |
Plague |
|
Tachycardia, Hematemesis, Endocarditis, Hypotension, Arrhythmia |
ORPHA:707 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal ossification, Patellar hypoplasia, Fem... |
OMIM:114290 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Postaxial hand polydactyly, Oligohydramnios, ... |
ORPHA:3380 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema, 2-3 toe syndactyly, Large hands, Clinodac... |
OMIM:606232 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m... |
ORPHA:261197 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric... |
ORPHA:500095 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Atrial septal defect, Hepa... |
OMIM:270400 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Sanda... |
OMIM:613458 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal... |
ORPHA:466791 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Genu valgum |
OMIM:617798 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Dysplastic tricuspid valve, ... |
ORPHA:1724 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Clinodactyly, Synovitis, Chylothorax, Pulmonic stenosis, R... |
OMIM:163950 |
Degcags Syndrome |
|
Tachycardia, Ventricular septal defect, Pulmonary arterial hypertension, Pulmonic stenosis, Atria... |
OMIM:619488 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Bartsocas-Papas Syndrome 1 |
|
Decreased fetal movement, Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absen... |
OMIM:263650 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Flexion contracture, Bicuspid aortic valve |
OMIM:619720 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Patent foramen ovale |
OMIM:614868 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect... |
OMIM:304120 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic stenosis, Atrial se... |
OMIM:618223 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Premature birth, Polyhydramni... |
OMIM:218040 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:1915 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger clinodactyly, Cli... |
ORPHA:508488 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Polydactyly, Atrial septal defect |
ORPHA:769 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... |
OMIM:271510 |
Intellectual Disability-Strabismus Syndrome |
|
Congenital diaphragmatic hernia, Achilles tendon contracture, Congenital finger flexion contractu... |
ORPHA:363528 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology |
ORPHA:1292 |
De Barsy Syndrome |
|
Decreased fetal movement, Congenital hip dislocation, Ventricular septal defect, Delayed closure ... |
ORPHA:2962 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... |
OMIM:276820 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Prominent metopic ridge, Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe,... |
OMIM:608670 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle |
OMIM:614886 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviation of the hand... |
OMIM:218600 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Single transverse palmar crease, Long palm... |
OMIM:244450 |
Syndromic Diarrhea |
|
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology... |
ORPHA:84064 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Complete atrioventricular c... |
OMIM:236680 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect |
ORPHA:52055 |
Buratti-Harel Syndrome |
|
Atrial septal defect |
OMIM:619314 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack |
OMIM:600268 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Slender long bone, Ventricular septal defect, Proximal placement of thumb, Coxa valga |
OMIM:212066 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Clinodactyly of the 5th finge... |
ORPHA:3047 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Broad hallux, A... |
ORPHA:353281 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Death in infancy |
ORPHA:1790 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Polyhydramnios, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Ap... |
OMIM:617088 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Limb hypertonia |
OMIM:617190 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Palpebral edema, Ventricular septal defect, Toe syndactyly, Tapered fing... |
ORPHA:261337 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, 2-3 toe cutaneous syndactyly, Short foot, Clinodactyly of the 5th fing... |
OMIM:618454 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Metopic synostosis, Tetralogy of Fallot, Paten... |
OMIM:618748 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, ... |
OMIM:300166 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolapse, Large hands, L... |
OMIM:617107 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
Muenke Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran... |
ORPHA:53271 |
Cardiofaciocutaneous Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... |
ORPHA:1340 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Coarse metaphyseal trabecularization, Brachydactyly, Ventricular septal defect, Mit... |
ORPHA:955 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia, Ankle clonus, Death in childhood |
OMIM:618397 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... |
ORPHA:353277 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Embryonal rhabdomyosarcoma, Pulmonic stenosis |
OMIM:257300 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Edema, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad metacarpa... |
OMIM:266920 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... |
ORPHA:2751 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea... |
OMIM:619471 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Tetralogy of Fallot, Ventricular septal defect, Transposition of... |
ORPHA:1780 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure |
OMIM:181270 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Prominent metopic ridge, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Plac... |
OMIM:130650 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect |
ORPHA:77298 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis |
OMIM:202650 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Short middle phalanx of finger, Clinodactyly of the 5th finger, Atrial... |
OMIM:301030 |
Donnai-Barrow Syndrome |
|
Short sternum, Ventricular septal defect |
OMIM:222448 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Ascites |
ORPHA:646 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rhizomelia, Polyhydramnios, Proximal placement of t... |
ORPHA:818 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Congestive heart failure, Small hand,... |
ORPHA:444077 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Macroglossia, Camptodactyly |
ORPHA:397709 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia, Abnormal hemidiaphragm morphology |
ORPHA:2257 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Single transverse palmar crease, Micromelia, Proximal placement of thu... |
OMIM:122470 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Complete duplication of thum... |
OMIM:227645 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Mesomelia, Patent foramen ovale, Hip subluxation |
OMIM:613457 |
Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Death in infancy, Ventricular septal defect |
ORPHA:1393 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Broad hallux, Ventricular septal defect, 1-2 toe syndactyly, Tapered finger, Partial anomalous pu... |
OMIM:301044 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Knee flexion contracture, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Coxa valga, Cardiomegaly |
OMIM:230000 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... |
ORPHA:904 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Hip dysplasia, Short phalanx of finger, Myocardial infarction |
OMIM:208060 |
Cardiofaciocutaneous Syndrome 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:115150 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Rhabdomyosarcoma, Muscular dystrophy, Subvalvular aortic stenosis, Atrial s... |
ORPHA:1052 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Ventricular septal defect, Calcaneal epiphyseal stippl... |
OMIM:117650 |
Arboleda-Tham Syndrome |
|
Brachydactyly, Ventricular septal defect, Sandal gap, Short hallux, Deviation of the hallux, Secu... |
OMIM:616268 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wris... |
OMIM:268300 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Broad ischia, Diaphyseal dysplasia, Short palm,... |
OMIM:619727 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal tibia morphology, Abnormal heart morphology, Mitral valve pro... |
ORPHA:363700 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect |
OMIM:620194 |
Distal Triplication 15Q |
|
Atrial septal defect, Flexion contracture, Camptodactyly, Abnormal heart morphology |
ORPHA:314588 |
Lateral Meningocele Syndrome |
|
Wormian bones, Prominent metopic ridge, Ventricular septal defect |
ORPHA:2789 |
Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Ventricular septal defect, Polyhydramnios, Patellar ... |
OMIM:606170 |
Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Ventricular septal defect, 1-2 toe s... |
OMIM:107480 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology |
ORPHA:369837 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morpholo... |
ORPHA:268261 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
Osteoglophonic Dysplasia |
|
Short metacarpal, Hypoplastic scapulae, Rhizomelia, Bowing of the long bones, Camptodactyly of fi... |
OMIM:166250 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Broad 2nd toe, Clinodactyly, Palmoplantar hyperkeratosis... |
OMIM:280000 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Skeletal muscle atrophy, Torticollis |
ORPHA:251061 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Overlapping toe, Single transverse palmar crease, Hip dislocation, Cli... |
OMIM:613884 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia |
ORPHA:93947 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased... |
ORPHA:17 |
Abetalipoproteinemia |
|
Talipes equinovarus, Hepatomegaly, Congestive heart failure, Cardiomegaly |
ORPHA:14 |
Vater/Vacterl Association |
|
Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Hypoplasia of the radius, Prea... |
OMIM:192350 |
Rothmund-Thomson Syndrome Type 1 |
|
Short metacarpal, Facial edema, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, Pa... |
ORPHA:221008 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly,... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly,... |
ORPHA:352665 |
Diets-Jongmans Syndrome |
|
Breech presentation, Hip dysplasia, Ventricular septal defect, Polyhydramnios |
OMIM:618846 |
White-Sutton Syndrome |
|
Atrial septal defect, Patent foramen ovale, Facial hypotonia, Congenital diaphragmatic hernia |
OMIM:616364 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cor triatriatum, Secundum atrial septal defect, Myopathy, Mitral regurgitation, Pulmonic stenosis... |
OMIM:612541 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent foramen ovale, Proximal muscle weakness in lower limbs, Atrial septal defect, Pulmonary ar... |
ORPHA:280633 |
Trichothiodystrophy |
|
Joint dislocation, Ventricular septal defect, Craniosynostosis, Abnormality of prenatal developme... |
ORPHA:33364 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Toe syndactyly, Ventricular septal defect, Single transverse palmar crease, Polyhydramnios, Taper... |
ORPHA:459070 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Craniosynostosis, Long fingers, Atria... |
ORPHA:96121 |
Zaki Syndrome |
|
Patent foramen ovale, Congenital diaphragmatic hernia |
OMIM:619648 |
Lateral Meningocele Syndrome |
|
Wormian bones, Vertebral fusion, Ventricular septal defect, Bicuspid aortic valve |
OMIM:130720 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect |
OMIM:300472 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Clinodactyly of the 5th finger, Overlapping toe, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Scapular winging |
OMIM:609625 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Patent foramen ovale, Heart murmur |
OMIM:618653 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Death in childhood |
OMIM:618278 |
Marden-Walker Syndrome |
|
Arachnodactyly, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs inversus ... |
ORPHA:2461 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Prominent fingertip pads, Joint dislocation, Anomaly of lower limb diaphyses... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Prominent fingertip pads, Joint dislocation, Anomaly of lower limb diaphyses... |
ORPHA:363958 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Vertebral fusion, Scapular winging, Short metacarpal, Bowed humerus, Epiphysea... |
OMIM:272460 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact... |
ORPHA:93271 |
Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:147791 |
Genitopatellar Syndrome |
|
Atrial septal defect, Hip contracture, Arthrogryposis multiplex congenita, Knee flexion contracture |
ORPHA:85201 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect |
OMIM:614749 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Short 5th finger, Atrial septal defect, Cli... |
ORPHA:1465 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Ventricular septal defect, Caesarian section |
OMIM:619575 |
Distal Deletion 10Q |
|
Atrial septal defect, Facial diplegia, Scapular winging |
ORPHA:96148 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly... |
ORPHA:567 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Limb hypertonia |
ORPHA:457351 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Patent ductus arteriosus, Dextrocardia |
OMIM:277380 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Long fingers, Intracranial hemor... |
ORPHA:79318 |
Holoprosencephaly |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Hand polydactyly, Arrhythmia, Tet... |
ORPHA:2162 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... |
OMIM:101800 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral regurgitation, D... |
OMIM:619127 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale, Portal hypertension |
OMIM:620005 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Mitral valve prolapse, Mitral reg... |
OMIM:601776 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Khan-Khan-Katsanis Syndrome |
|
Joint contracture, Tricuspid regurgitation, Patent foramen ovale |
OMIM:618460 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Congestive heart failure, Patent foramen ovale, Pulmonary arterial hypertension, Renovascular hyp... |
ORPHA:391487 |
Hepatoerythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma, Ventricular septal d... |
ORPHA:1071 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Ventricular septal defect, Prenatal movement abnormality, Premature birth, Microm... |
ORPHA:199 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Facia... |
ORPHA:221016 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect |
OMIM:614207 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Joint contracture |
OMIM:618005 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Joint contracture of the hand, Clinodactyly of... |
OMIM:309500 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Fetal ascites, Polyhydramnios, 5-minute APGAR score of 3, Hypoplastic ... |
ORPHA:141127 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Osteolytic defects of the distal phalanges of the hand, Short clavicles... |
OMIM:608612 |
Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Craniosynostosis, Breech presentation, Small han... |
OMIM:617140 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale |
OMIM:619179 |
Pseudo-Torch Syndrome 1 |
|
Patent foramen ovale |
OMIM:251290 |
Leigh Syndrome |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:506 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Premature birth, Delayed closure of the anterior fontanelle, Short toe, Premature rupture of memb... |
OMIM:225410 |
Esophageal Atresia |
|
Ventricular septal defect, Polyhydramnios, Absence of stomach bubble on fetal sonography, Clinoda... |
ORPHA:1199 |
Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the hand |
OMIM:192430 |
Pallister-Hall Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Radial bowing, Polyda... |
ORPHA:672 |
Hardikar Syndrome |
|
Hepatomegaly, Ventricular septal defect, Portal hypertension, Hematemesis, Splenomegaly, Partial ... |
OMIM:301068 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Hypertension |
OMIM:300896 |
Peters-Plus Syndrome |
|
Syndactyly, Short metacarpal, Ventricular septal defect, Single transverse palmar crease, Polyhyd... |
OMIM:261540 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Camptodactyly of finger |
OMIM:619951 |
Wolf-Hirschhorn Syndrome |
|
Decreased fetal movement, Vertebral fusion, Ventricular septal defect, Single transverse palmar c... |
OMIM:194190 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Pulmonic stenos... |
OMIM:617137 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Prominent metopic ridge, Ventricular septal defect, Craniosynostosis, Abnormal ... |
ORPHA:2745 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect |
OMIM:613309 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abnormal heart valve morpho... |
ORPHA:536471 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... |
OMIM:610442 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Arthritis, Hypertrophic cardiomyopathy |
ORPHA:51 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Camptodactyly |
ORPHA:261323 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect |
OMIM:619306 |
Penile Agenesis |
|
Ventricular septal defect, Fetal pyelectasis, Bilateral talipes equinovarus, Atrial septal defect... |
ORPHA:49 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasi... |
OMIM:612289 |
Helsmoortel-Van Der Aa Syndrome |
|
Facial palsy, Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Mitral regurgitatio... |
OMIM:615873 |
Charge Syndrome |
|
Hypoplasia of the ulna, Overriding aorta, Ventricular septal defect, Down-sloping shoulders, Poly... |
OMIM:214800 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Hip dysplasia, Clinodactyly of the 5th finger, Patent fora... |
OMIM:616975 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Congenital pulmonary airway malformation, Polyhydramnios |
ORPHA:436252 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect |
ORPHA:2637 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Prominent metopic ridge, Premature birth, Polyhydramnios, Cardiomegaly, Large place... |
ORPHA:116 |
Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones |
OMIM:616831 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
OMIM:241080 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Phace Association |
|
Ventricular septal defect |
OMIM:606519 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse |
ORPHA:251066 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Torticollis, Facial hypotonia, Mitral valve prolapse, Tricuspid valve prola... |
OMIM:618371 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Facial palsy, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale, Right ... |
OMIM:620186 |
Rhombencephalosynapsis |
|
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx |
ORPHA:59315 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... |
OMIM:301043 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect |
OMIM:300968 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia |
OMIM:601162 |
Early Infantile Epileptic Encephalopathy |
|
Short finger, Ventricular septal defect, Broad finger, Broad phalanx of the toes |
ORPHA:1934 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Flexion contracture, Generalized limb muscle atrophy |
OMIM:618891 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Congenital diaphragmatic hernia |
OMIM:614080 |
Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Ventricular septal defect, Deviation of the hallux, Postaxial hand polydactyly, Dup... |
ORPHA:434179 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Single transverse palmar crease, Portal hypertension, Si... |
OMIM:243800 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Morgagni diaphragmatic hernia, Death in ch... |
OMIM:613177 |
Distal Deletion 6P |
|
Atrial septal defect |
ORPHA:96125 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Splenomegaly, Hepatomegaly, Ventricular septal defect, Premature birth |
OMIM:619418 |
Magel2-Related Prader-Willi-Like Syndrome |
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Atrial septal defect, Flexion contracture |
ORPHA:398069 |
Ring Chromosome 12 Syndrome |
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Secundum atrial septal defect |
ORPHA:1439 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:613355 |
Alzahrani-Kuwahara Syndrome |
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Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement |
OMIM:619268 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Sho... |
OMIM:118450 |
Carpenter Syndrome 2 |
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Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Knee flexion contracture, Transpos... |
OMIM:614976 |
Ramos-Arroyo Syndrome |
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Atrial septal defect |
ORPHA:1051 |
Osteoporosis-Pseudoglioma Syndrome |
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Metaphyseal widening, Ventricular septal defect, Tibial bowing |
OMIM:259770 |
Ctcf-Related Neurodevelopmental Disorder |
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Mitral regurgitation, Joint contracture of the 5th finger, Atrial septal defect, Pulmonary arteri... |
ORPHA:363611 |
Fanconi Anemia |
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Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Atrial septal defect, Hyper... |
ORPHA:84 |
Pancreatic And Cerebellar Agenesis |
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Secundum atrial septal defect, Death in infancy, Flexion contracture |
OMIM:609069 |
Coffin-Siris Syndrome 1 |
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Prominent fingertip pads, Ventricular septal defect, Single transverse palmar crease, Sandal gap,... |
OMIM:135900 |
Nicolaides-Baraitser Syndrome |
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Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... |
OMIM:601358 |
Loeys-Dietz Syndrome 3 |
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Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... |
OMIM:613795 |
Viss Syndrome |
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Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, Atrial septal defect, Patent f... |
OMIM:619472 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... |
ORPHA:99413 |
Mosaic Monosomy X |
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Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... |
ORPHA:99226 |
Turner Syndrome |
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Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... |
ORPHA:881 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Death in infancy, Hypertension, Neonatal death, Death in childhood, Atrial septal defect, Corneal... |
OMIM:308205 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Atrial septal defect, Progressive flexion contractures |
ORPHA:522077 |
Orofaciodigital Syndrome Xiv |
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Broad hallux, Ventricular septal defect, Postaxial hand polydactyly, Preaxial polydactyly, Aplasi... |
OMIM:615948 |
Woodhouse-Sakati Syndrome |
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Abnormal T-wave |
ORPHA:3464 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Aortic regurgitation, Nuchal cord, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... |
OMIM:619475 |
Holoprosencephaly 14 |
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Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Broad toe, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Short thum... |
OMIM:619522 |
Gabriele-De Vries Syndrome |
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Facial hypotonia, Distal arthrogryposis, Patent foramen ovale |
OMIM:617557 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Hip dysplasia, Pulmo... |
ORPHA:438213 |
Williams-Beuren Syndrome |
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Hallux valgus, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Down-slopin... |
OMIM:194050 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Ventricular septal defect |
OMIM:206900 |
Tarp Syndrome |
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Atrial septal defect, Tetralogy of Fallot |
ORPHA:2886 |
Tetrasomy 9P |
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Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Abnormal cardiac septum morphology, Abn... |
ORPHA:3310 |
Pallister-Killian Syndrome |
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Edema of the dorsum of feet, Congenital hip dislocation, Single transverse palmar crease, Polyhyd... |
OMIM:601803 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Metatarsus adductus, Hip dysplasia, Osteopathia striata, Ventricular septal defect |
ORPHA:513456 |
Focal Dermal Hypoplasia |
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Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polydactyly, Osteopa... |
OMIM:305600 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Atrial septal defect, Arthrogryposis multiplex congenita |
OMIM:619512 |
Neurocardiofaciodigital Syndrome |
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Atrial septal defect, Double inlet left ventricle, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:619869 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Atrial septal defect |
OMIM:213980 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Arachnodactyly, Rocker bottom foot, Craniosynostosis, Tarsal synostosis, Breech presentation, Uln... |
OMIM:201750 |
Nance-Horan Syndrome |
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Short phalanx of finger, Broad finger |
OMIM:302350 |
Kabuki Syndrome 1 |
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Joint dislocation, Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defec... |
OMIM:147920 |
Microgastria-Limb Reduction Defect Syndrome |
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Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus |
ORPHA:2538 |
Wolf-Hirschhorn Syndrome |
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Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart valve morphology, Congen... |
ORPHA:280 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Generalized muscle hypertrophy, Abnormal heart morphology, Pulmonic st... |
OMIM:235730 |
Coffin-Siris Syndrome 12 |
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Tetralogy of Fallot, Patent foramen ovale, Facial palsy, Heart murmur |
OMIM:619325 |
Restrictive Dermopathy 1 |
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Limb joint contracture, Flexion contracture, Stillbirth, Neonatal death, Atrial septal defect |
OMIM:275210 |
Loeys-Dietz Syndrome 1 |
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Bicuspid aortic valve, Bicuspid pulmonary valve, Mitral valve prolapse, Camptodactyly, Atrial sep... |
OMIM:609192 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Sandal gap, Ventricular septal defect, Long fingers, Cutaneous syndactyly, Toe clinodactyly |
OMIM:620330 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, La... |
OMIM:619269 |
Schinzel-Giedion Midface Retraction Syndrome |
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Atrial septal defect, Macroglossia |
OMIM:269150 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Atrial septal defect |
ORPHA:2526 |
Poland Syndrome |
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Atrial septal defect, Aplasia of the pectoralis major muscle, Dextrocardia, Congenital diaphragma... |
ORPHA:2911 |
Neurooculorenal Syndrome |
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Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... |
OMIM:620305 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Atrial septal defect, Cardiomyopathy |
ORPHA:480880 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Atrial septal defect, Ischemic stroke, Transient ischemic attack, Abnormal heart morphology |
ORPHA:500150 |
Diphallia |
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Atrial septal defect, Abnormal heart morphology |
ORPHA:227 |
Restrictive Dermopathy |
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Dextrocardia, Large placenta, Patent ductus arteriosus, Short umbilical cord, Transposition of th... |
ORPHA:1662 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Splenomegaly, Hepatomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
Sotos Syndrome |
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Hip contracture, Ventricular septal defect, Ankle flexion contracture, Craniosynostosis, Bilatera... |
ORPHA:821 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Lower limb hypertonia, Patent foramen ovale |
ORPHA:477993 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Bicuspid aortic valve, Ventricu... |
ORPHA:261552 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Bicuspid pulmonary valve, Mitral valve prolapse, Camptodactyly, Atrial sep... |
OMIM:610168 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Sinus bradycardia |
OMIM:619482 |
Digeorge Syndrome |
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Ventricular septal defect, Splenomegaly, Patellar dislocation, Truncus arteriosus, Tetralogy of F... |
OMIM:188400 |
Floating-Harbor Syndrome |
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Atrial septal defect, Mesocardia |
OMIM:136140 |
Proboscis Lateralis |
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Ventricular septal defect |
ORPHA:141099 |
Floating-Harbor Syndrome |
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Atrial septal defect, Mesocardia, Tetralogy of Fallot |
ORPHA:2044 |
Craniosynostosis And Dental Anomalies |
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Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty... |
OMIM:614188 |
Townes-Brocks Syndrome |
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Atrial septal defect, Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Te... |
ORPHA:857 |
Craniofacial Microsomia 1 |
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Block vertebrae, Ventricular septal defect, Partial duplication of thumb phalanx, Genu valgum, Te... |
OMIM:164210 |