Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Cardiomyopathy, Dilated, 1Ff |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... |
ORPHA:2041 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... |
ORPHA:563 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Cardiomyopathy, Dilated, 2C |
|
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... |
OMIM:618189 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure, Death in infancy |
OMIM:212080 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn... |
OMIM:300580 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest |
ORPHA:34587 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, Type 1 muscle fib... |
OMIM:255160 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... |
ORPHA:99106 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... |
OMIM:115197 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
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 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, EMG: myop... |
OMIM:601419 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... |
OMIM:160500 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
Dpm3-Cdg |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystroph... |
ORPHA:263494 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Flexion contracture, In... |
OMIM:300718 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Respiratory distress, Nonim... |
ORPHA:367 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Death in infancy, Left atrial enlargement, Left ventricular noncompaction cardiomyo... |
OMIM:619424 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... |
OMIM:618654 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... |
OMIM:619903 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Death in infancy, Sudden cardiac death, Cardiomega... |
OMIM:201475 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase con... |
OMIM:619048 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,... |
ORPHA:171442 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Myopathy, Restrictive ... |
ORPHA:369840 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ... |
OMIM:231530 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Respiratory arrest, Dilated cardiomyop... |
OMIM:600649 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Cir... |
OMIM:602390 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, S... |
ORPHA:75249 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Congenital Gerbode Defect |
|
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... |
ORPHA:99095 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration |
ORPHA:79159 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Respiratory insufficiency due ... |
OMIM:613561 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hype... |
OMIM:618815 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dilated cardiomyo... |
OMIM:161800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:212140 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Dilated cardiomyopathy |
OMIM:610140 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Microvesicular h... |
OMIM:615395 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... |
ORPHA:2414 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... |
OMIM:619705 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Respiratory insufficiency due to muscle weakness, Intrinsic hand muscle atrophy, Cardiomyopathy, ... |
ORPHA:63273 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in childhood, Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:615440 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... |
OMIM:610476 |
Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Abnormal bleeding, Hepatomeg... |
ORPHA:57777 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy |
ORPHA:154 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia |
ORPHA:324588 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Hydrocephalus, Dyspl... |
OMIM:612863 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Splenomegaly, Congestive heart failure, Dysp... |
ORPHA:3386 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Congestive heart failure, Hydrops fetali... |
OMIM:269920 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Hydrocephalus, Congestive heart failure... |
ORPHA:163596 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... |
OMIM:607598 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotroph... |
OMIM:253300 |
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 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Elevated hepatic transaminase, Dilated cardiomyopathy |
OMIM:619688 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Death in infancy, Congestive heart failure, Microvesicular hepatic... |
OMIM:611126 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Incr... |
ORPHA:70591 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Respiratory insufficiency due to mu... |
OMIM:310200 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of... |
ORPHA:860 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Acute pan... |
ORPHA:26791 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Congestive heart failure, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension... |
ORPHA:1349 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... |
OMIM:620236 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Restrictive ventilatory d... |
ORPHA:369847 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... |
OMIM:252011 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... |
OMIM:255310 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra... |
OMIM:616974 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Congestive ... |
ORPHA:91131 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... |
ORPHA:86812 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Respiratory insufficienc... |
OMIM:615084 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Respiratory insufficiency, Cardiomyopathy, Atrial sep... |
ORPHA:1909 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ... |
OMIM:615959 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami... |
OMIM:618805 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... |
OMIM:618234 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality o... |
ORPHA:79230 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... |
OMIM:235200 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respirat... |
OMIM:614299 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... |
ORPHA:272 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular ta... |
OMIM:605676 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Edema, Pulmonary embolism, Co... |
ORPHA:90308 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Con... |
ORPHA:1194 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Abnormal bleeding, Elevated hepatic transaminase, Heart bloc... |
ORPHA:398124 |
Cardiomyopathy, Dilated, 2E |
|
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... |
OMIM:619492 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Abnormal circulating enzyme concentration or ... |
ORPHA:132 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... |
ORPHA:324604 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr... |
OMIM:614876 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concen... |
OMIM:620300 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Hepatic steatosis, Myopathy |
ORPHA:26792 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Dilated card... |
ORPHA:352447 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Reduced forced vital capacity, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left... |
OMIM:607155 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... |
ORPHA:98909 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... |
ORPHA:26793 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly |
OMIM:609016 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Abnormal heart m... |
ORPHA:70472 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Cardiomegaly, Dyspnea, Heart murmur, Hepatos... |
ORPHA:99931 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Asthma, Heart ... |
ORPHA:100093 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... |
ORPHA:1143 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... |
ORPHA:555874 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat... |
ORPHA:71212 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276556 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, R... |
ORPHA:171445 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Respiratory insufficiency, Arthrogryposis multiplex co... |
OMIM:615731 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... |
ORPHA:2299 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276575 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure, Redundant skin |
OMIM:301021 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Atrial septal d... |
ORPHA:363705 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Respir... |
ORPHA:308552 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ... |
OMIM:619751 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Respiratory insufficiency, Pallor, Cholelithia... |
ORPHA:848 |
Hemochromatosis, Neonatal |
|
Abnormal bleeding, Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibro... |
OMIM:231100 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Splenomegaly, Congestive heart f... |
OMIM:230500 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276580 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... |
OMIM:616276 |
Malonyl-Coa Decarboxylase Deficiency |
|
Neonatal respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
OMIM:248360 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophi... |
OMIM:616277 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... |
OMIM:253250 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... |
OMIM:616501 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Macrovesicular hep... |
OMIM:608836 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural... |
ORPHA:330001 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure, Ragged-red muscle fibers, Polyhydramnios |
OMIM:616794 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... |
OMIM:616866 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... |
ORPHA:1055 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98855 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency |
OMIM:615917 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla... |
ORPHA:3099 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture |
OMIM:618120 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Respiratory insufficiency, Cardiomyopathy, Myopathy, Suprav... |
OMIM:255100 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor... |
ORPHA:980 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Dyspnea, Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Limb muscle weak... |
OMIM:606842 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur |
ORPHA:3400 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:254913 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Hypertension, Left ventricular hypertrophy, Oligohydra... |
OMIM:616733 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic steno... |
OMIM:619433 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy, Death in childhood |
OMIM:619651 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... |
OMIM:602541 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly, Congestive heart failure |
ORPHA:796 |
Refsum Disease, Classic |
|
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Limb muscle... |
OMIM:266500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, ... |
OMIM:619064 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Cardiac arrest, Splenomegaly, Flexion contracture, Cough, Abn... |
ORPHA:77260 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Ne... |
OMIM:619003 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Death in infancy, Congestive heart failure, Flexion contracture, Respira... |
ORPHA:157973 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Car... |
OMIM:608540 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Elevated circulat... |
ORPHA:52430 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hydrocephalus, Jaundice, Ascites |
ORPHA:858 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hepatic cysts, Hyp... |
ORPHA:79328 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Pulmonary arterial... |
OMIM:616028 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Dehydration, Cardiomyopathy, Pancreatitis |
ORPHA:79312 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Hypersplenism, Splenomegaly, High-output congestive heart failure,... |
ORPHA:231226 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... |
OMIM:608758 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Respiratory insuf... |
ORPHA:746 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... |
OMIM:208000 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough |
OMIM:263000 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hepatomegaly, Death in infancy, Cardiac arrest, Myofiber disarray, Myopathy... |
OMIM:604377 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Abnormal respiratory system physiology, Telangiectasia, Biventricular hyp... |
ORPHA:101028 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... |
OMIM:212112 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal cardiovascular system physiology, Abnormal ... |
ORPHA:50251 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... |
ORPHA:500533 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Edema, Ja... |
ORPHA:20 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
ORPHA:399058 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Myop... |
OMIM:610717 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Flexion contractur... |
OMIM:253800 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy, Pyoderma gangrenosum, Erythema |
OMIM:608068 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... |
OMIM:612999 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Dilated cardiomyopathy, Bradycardia, Aspiration, Dry skin |
OMIM:610768 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc... |
OMIM:618652 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... |
OMIM:614702 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia |
ORPHA:871 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... |
OMIM:613243 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat... |
ORPHA:465508 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Hypoplasia of the diaphragm, Cough, Atrial septal defect, Sing... |
ORPHA:185 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Mitral regurgitation |
ORPHA:83473 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... |
ORPHA:67 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chole... |
OMIM:620233 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... |
ORPHA:45452 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoplasia of the musculature, Hypersplenism, Splenomegaly, High-output congestive ... |
ORPHA:231214 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:618348 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Lethal Infantile Mitochondrial Myopathy |
|
Neonatal respiratory distress, Cardiomyopathy, Fatal liver failure in infancy |
ORPHA:254857 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ragged-re... |
ORPHA:254864 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Myocarditis, Congestive ... |
ORPHA:206569 |
Distal Myotilinopathy |
|
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Respiratory insufficiency, ... |
OMIM:615352 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Camptodactyly of finger, Dextrocardia, Meningocele, Respiratory insufficiency, Abno... |
ORPHA:1759 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Dyspnea |
ORPHA:75563 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Skeletal muscle atrophy, Respiratory distress, Elevated circ... |
OMIM:256810 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, Co... |
ORPHA:454836 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis,... |
OMIM:256550 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... |
ORPHA:399086 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... |
ORPHA:90065 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:613752 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arterios... |
OMIM:601005 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemo... |
ORPHA:3260 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, D... |
OMIM:614582 |
Babesiosis |
|
Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart failure, Respirator... |
ORPHA:108 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Abnormal lact... |
ORPHA:42 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiomyopathy, Distal amyo... |
OMIM:232400 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphr... |
ORPHA:1120 |
Congenital Myopathy 24 |
|
Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Card... |
OMIM:617336 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the li... |
ORPHA:137667 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... |
OMIM:115195 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr... |
ORPHA:210136 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea,... |
OMIM:618278 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Congestive he... |
OMIM:615895 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... |
ORPHA:555877 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... |
OMIM:164310 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Cardiomyopathy, Facia... |
ORPHA:171433 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ... |
ORPHA:66634 |
Asbestos Intoxication |
|
Reduced vital capacity, Edema, Right ventricular failure, Reduced forced vital capacity, Nonprodu... |
ORPHA:2302 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Asthma, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthro... |
OMIM:614262 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... |
OMIM:256000 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myo... |
ORPHA:292 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ... |
OMIM:203800 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Hepatic steatosis, Myocardial infarction |
OMIM:615703 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... |
OMIM:211960 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Facial pal... |
ORPHA:254892 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart failure, Abnormality ... |
ORPHA:79083 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... |
OMIM:615355 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Death in infancy, Dyspnea, Patent ductus arteriosus, Rhabdomyolysis, Dilated cardio... |
OMIM:610505 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Erythema, Death in childhood, Left ventricular hypertrophy, ... |
OMIM:618321 |
Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia |
ORPHA:1296 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... |
OMIM:614399 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage |
OMIM:300845 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... |
OMIM:617300 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Skeletal muscle atrophy, Death in infancy, Elevated circulating aspartate aminotran... |
OMIM:608779 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplen... |
OMIM:232500 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... |
OMIM:619259 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, ... |
ORPHA:2348 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Bacterial endocardi... |
ORPHA:1054 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundan... |
ORPHA:3342 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresi... |
OMIM:306955 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Splenomegaly,... |
OMIM:309900 |
Evans Syndrome |
|
Epistaxis, Dyspnea, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Hydrocephalus, Flexion contracture, Abnormal left ventricular function, Cardiomyopa... |
OMIM:613155 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... |
ORPHA:238329 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis, Cutis laxa |
OMIM:105120 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... |
OMIM:617713 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... |
OMIM:613873 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of... |
ORPHA:97214 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepati... |
OMIM:231680 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... |
ORPHA:2326 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Death in infancy, Congestive heart failure, Left ventricular hyper... |
OMIM:619355 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Lymphedema, Splenomegaly, Intracranial hemorrhage, Respira... |
ORPHA:3226 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Pancreatitis |
OMIM:251000 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Exertional dyspnea |
ORPHA:90037 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Congestive heart failure, Flexion contracture, ... |
OMIM:617303 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Flexion c... |
ORPHA:261519 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Angina pectoris, Splenomegal... |
ORPHA:565612 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension |
OMIM:618886 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Muscular dystrophy |
OMIM:309930 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca... |
OMIM:619573 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic... |
OMIM:220110 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asple... |
ORPHA:210122 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Myopathy, Ventricular septal defect, Increased ... |
OMIM:616816 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... |
OMIM:608013 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... |
ORPHA:2596 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Cardiomyopathy, Arrhythmia, Hepatomegaly |
ORPHA:35 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Apnea, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dyspn... |
ORPHA:255210 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Death in infancy, Ventric... |
OMIM:208085 |
Hec Syndrome |
|
Communicating hydrocephalus, Polyhydramnios, Respiratory insufficiency, Cardiomyopathy, Endocardi... |
ORPHA:2119 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Ventricular septal defect, Death in infancy |
OMIM:613730 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... |
OMIM:610978 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Edema, Cardiomegaly,... |
ORPHA:79330 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Edema, Splenomegaly... |
ORPHA:90051 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to... |
OMIM:615512 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... |
ORPHA:348 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... |
ORPHA:85446 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, A... |
ORPHA:2519 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Dyspne... |
OMIM:123700 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Cirrhosis, Hyp... |
ORPHA:528 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Abnormal bleeding, Elevated hepatic transaminase, Jaundice, H... |
ORPHA:90062 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Congestive heart failure, Perito... |
ORPHA:727 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Restrictive cardiomyopathy, Cholelithiasis |
ORPHA:822 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Congestive heart failure, Aplas... |
ORPHA:354 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor, Abnormal pattern of respiration |
ORPHA:29822 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Patent ductus arteriosus, Abnormal left ventricular function,... |
ORPHA:229 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Peau d'orange, Elevated hepatic transaminase, Ventricular septal... |
OMIM:614576 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Pallor, Exertional dyspnea |
ORPHA:90033 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis |
OMIM:618624 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Emphysema, ... |
ORPHA:324 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Respiratory distress, Abnormal heart v... |
ORPHA:781 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... |
OMIM:606763 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Splenomegaly, Congestive... |
ORPHA:33226 |
Perching Syndrome |
|
Respiratory distress, Joint contracture, Camptodactyly |
OMIM:617055 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Calf muscle hypertrophy,... |
ORPHA:98896 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephal... |
ORPHA:505248 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Dyspnea, Pallor |
ORPHA:517 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Abnormal heart valve morphology, Apnea, Splenomegaly, Hydrocephalus, Congestive heart ... |
ORPHA:579 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Flexion contracture, Lower limb muscle weakness, Hepatomegaly... |
ORPHA:365 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Holo... |
OMIM:202650 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Respiratory distress |
ORPHA:89844 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Rhinitis |
ORPHA:93476 |
Ciliary Dyskinesia, Primary, 30 |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Bronchiectasis, Respirat... |
OMIM:616037 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Purpura, Increased circulating lactate dehydrogenase concen... |
ORPHA:319213 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ankle flexion contracture, Spl... |
OMIM:608799 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Dermatitis, Atopic |
|
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin |
OMIM:603165 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Rhabdomyoly... |
OMIM:212138 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Death in infancy, Polyhydramnios, Cardiomyopathy, Myopathy, Stillbirth, Respiratory... |
OMIM:614922 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Asthma, Patent duc... |
OMIM:606003 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol... |
OMIM:611134 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Abnormal circulating enzyme conc... |
ORPHA:98915 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, Polysplenia |
OMIM:612776 |
Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ... |
ORPHA:98908 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Acute Lung Injury |
|
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D... |
ORPHA:178320 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrh... |
ORPHA:79282 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... |
ORPHA:268 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, High-output congestive heart failure, Jaund... |
ORPHA:231222 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... |
OMIM:616897 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... |
OMIM:615415 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy |
ORPHA:70595 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma |
ORPHA:141179 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Cardiomyopa... |
ORPHA:228305 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Scorpion Envenomation |
|
Bundle branch block, Edema, Tachypnea, Prominent U wave, Elevated circulating aspartate aminotran... |
ORPHA:466677 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom... |
ORPHA:91139 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramni... |
ORPHA:596 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis |
OMIM:606069 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress, Respiratory distr... |
OMIM:615042 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... |
OMIM:615382 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... |
ORPHA:550 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis, Purpura |
OMIM:604250 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Mit... |
OMIM:612561 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma |
ORPHA:141184 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hepatomegaly, Flexion contracture, Atrial septal defect, Hypertrophic cardi... |
OMIM:619383 |
Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Cardioresp... |
ORPHA:31824 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Hydrocephalus, Hepatic ca... |
ORPHA:228308 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Cardiomegaly, Tachypnea, Hypertension, Death in childhood, Pulmonary arterial h... |
OMIM:613320 |
Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Skin ulcer, Rhiniti... |
ORPHA:507 |
Viss Syndrome |
|
Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, Atrial septal defect, Emphysem... |
OMIM:619472 |
Alg1-Cdg |
|
Cardiomyopathy, Respiratory failure, Decreased liver function, Abnormal heart morphology |
ORPHA:79327 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Respiratory f... |
ORPHA:158687 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal d... |
OMIM:618839 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Asthma, Pate... |
OMIM:601808 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy |
OMIM:619099 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Patent ductus arteriosu... |
OMIM:217980 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor |
OMIM:609053 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Dehydration, Aspir... |
ORPHA:2131 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Porta... |
ORPHA:824 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Hepatomegaly, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:75564 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... |
OMIM:620011 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegal... |
OMIM:615688 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity, Congestive he... |
OMIM:229300 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... |
OMIM:616589 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-o... |
ORPHA:423 |
Atransferrinemia |
|
Congestive heart failure, Abnormality of the liver |
OMIM:209300 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... |
OMIM:265400 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Congestive heart failure, Fl... |
ORPHA:682 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... |
ORPHA:36238 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Redundant skin, Congestive heart failure, Hydrocephalus, Res... |
OMIM:616482 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Death in infancy, Ventricular ... |
OMIM:613404 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Increased iduronate sulfata... |
OMIM:252500 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc... |
OMIM:617253 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Hepatic fibrosis |
OMIM:613989 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Tachycardia, Myositis, Sinusitis, Pneumonia, Edema, Myocarditis, Per... |
ORPHA:36234 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Triploidy |
|
Hepatomegaly, Polyhydramnios, Abnormality of the pancreas, Hydrocephalus, Meningocele, Abnormalit... |
ORPHA:3376 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect, Pedal edema, Sinus bradycardia |
OMIM:126320 |
Al Amyloidosis |
|
Nonproductive cough, Xerostomia, Abnormality of the liver, Hepatomegaly, Abnormal EKG, Elevated c... |
ORPHA:85443 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Polyhydramnios, Edema |
ORPHA:1423 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Splenomegaly, Congestive heart ... |
ORPHA:525731 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Dyspnea, Flexion contracture, Right bundle branch block, Hypertension, M... |
OMIM:614008 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Splenomeg... |
OMIM:616651 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... |
OMIM:220210 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Intrahepatic biliary atresia, Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Alg3-Cdg |
|
Abnormal circulating enzyme concentration or activity, Macroglossia, Neural tube defect, Cardiomy... |
ORPHA:79321 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Splenomegaly, Co... |
ORPHA:280365 |
Sweet Syndrome |
|
Myositis, Dilated cardiomyopathy, Pyoderma gangrenosum, Skin vesicle, Small vessel vasculitis |
ORPHA:3243 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema |
OMIM:267450 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Erythema, Skin ulcer, Cardiomyopathy, Hypertension |
ORPHA:767 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Reduced vital capacity, Fatt... |
ORPHA:329478 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... |
OMIM:615745 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Budd-Chiari syndrome, Cirrhosis |
OMIM:127550 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice, Pallor |
OMIM:615631 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... |
ORPHA:2331 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... |
ORPHA:1461 |
Atelis Syndrome 1 |
|
Atrial septal defect, Dry skin, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal bleeding, Abnormal circulating enzyme concentration or activity, Decreased muscle mass, ... |
ORPHA:1900 |
Mgat2-Cdg |
|
Abnormal bleeding, Respiratory distress, Ventricular septal defect, Reduced level of N-acetylgluc... |
ORPHA:79329 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Holoprosencephaly, Polyhydramnios, Respiratory distress |
ORPHA:990 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly |
OMIM:614741 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Tachypnea, Dehydration, Hypertension, Pallor, Hypotension, Cough |
ORPHA:134 |
Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Dyspnea, Joi... |
ORPHA:35687 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Death in childhood, Umbilical... |
OMIM:612938 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:615595 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... |
ORPHA:264675 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture |
OMIM:617977 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra... |
ORPHA:2255 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmat... |
ORPHA:1166 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Hypertroph... |
OMIM:618835 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestasis, Hepatic fibros... |
OMIM:615630 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Cerebral hemorrhage, Abnormality... |
OMIM:620278 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia, D... |
ORPHA:226313 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... |
ORPHA:1145 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Ventricular septal defect |
OMIM:617895 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Macroglossia,... |
OMIM:615668 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Respiratory insufficiency, Dehydration, Cardiomyopathy, Pancreatitis |
ORPHA:27 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating alkaline phosphata... |
ORPHA:263455 |
Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Polyhydramnios, Intrahepatic cholestasis, Perimembranous v... |
OMIM:606812 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... |
ORPHA:254534 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Respiratory di... |
ORPHA:537 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Xerostomia, S... |
ORPHA:220393 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atriovent... |
OMIM:160900 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Co... |
ORPHA:2038 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right... |
ORPHA:97287 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Hydrocep... |
ORPHA:2556 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Atrial septal defect, Hydrocephalus, Right atrial enlargement |
OMIM:615219 |
Tetrasomy 5P |
|
Respiratory distress, Redundant neck skin, Congestive heart failure, Hydrocephalus, Aplasia/Hypop... |
ORPHA:3309 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... |
ORPHA:314655 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Death in infancy, Respiratory distress, Polyhydramnios, Congestive... |
OMIM:617156 |
Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Flexion contracture, Ventricular septal defect |
OMIM:147800 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Limb hypertonia |
OMIM:620306 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Respiratory distress, Polyhydramnios, Congestive heart failure, Flexion contra... |
OMIM:616271 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
ORPHA:500159 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios |
ORPHA:3405 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arteriosus, Atrial... |
ORPHA:290 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothro... |
OMIM:616483 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activity, Multiple joint co... |
ORPHA:506 |
Propionic Acidemia |
|
Hepatomegaly, Apnea, Cerebellar hemorrhage, Tachypnea, Dehydration, Cardiomyopathy, Propionyl-CoA... |
OMIM:606054 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Reduced beta-hexosaminidase activ... |
OMIM:268800 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Hepatomegaly, Ventricular septal defect |
OMIM:620210 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus... |
OMIM:231005 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Nonimmune hydrops fetalis, Reduced red cell pyruvate kinase level, Splenomegaly, Ja... |
OMIM:266200 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Dehydratio... |
ORPHA:79404 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t... |
ORPHA:171 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Mitr... |
OMIM:603387 |
Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... |
OMIM:242840 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Neonatal respiratory distre... |
OMIM:618870 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Redundant skin, Congestive heart failure, Pneumothorax, Cutis laxa, Righ... |
OMIM:617403 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios... |
OMIM:616564 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:3222 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal heart rate variability,... |
ORPHA:70588 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Lack of skin... |
OMIM:231050 |
Listeriosis |
|
Respiratory distress, Pericarditis, Liver abscess, Miscarriage, Pneumonia, Myocarditis, Congestiv... |
ORPHA:533 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Esophageal Atresia |
|
Respiratory distress, Ventricular septal defect, Polyhydramnios, Episodic respiratory distress, C... |
ORPHA:1199 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent du... |
OMIM:608149 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Pallor, Ch... |
ORPHA:667 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hy... |
OMIM:614424 |
Costello Syndrome |
|
Ventricular septal defect, Redundant skin, Polyhydramnios, Lack of skin elasticity, Mitral valve ... |
ORPHA:3071 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Pallor |
OMIM:613839 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Redundant skin, Congestive heart failure, Dilatation of th... |
ORPHA:90349 |
Abetalipoproteinemia |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Congestive heart fa... |
ORPHA:14 |
Martsolf Syndrome 1 |
|
Tracheomalacia, Cardiomyopathy, Cardiac arrest, Congestive heart failure |
OMIM:212720 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Recurrent... |
ORPHA:209905 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormality of the pancreas, Hydrocephalus, Aplasia/Hypoplasia of the ... |
ORPHA:1926 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Subcutane... |
ORPHA:238459 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hepatic steatosis, Abnormal... |
ORPHA:17 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy |
OMIM:616541 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele |
ORPHA:66637 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Carney Complex, Type 1 |
|
Cardiac myxoma, Congestive heart failure |
OMIM:160980 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... |
OMIM:608978 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Aarskog-Scott Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Congestive heart failure |
ORPHA:915 |
Tyshchenko Syndrome |
|
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Polyhydramnios, Edema, Patent ductus arteriosus, Recurrent pneumonia, Paten... |
OMIM:607143 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Sudden episodic apnea, Rhabdomyolysis, Ventricular t... |
ORPHA:159 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Polyhydramnios, Supraventricular tachycardia, Foo... |
ORPHA:273 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... |
ORPHA:119 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Retroperitoneal f... |
OMIM:602782 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypoxemia, Hypertension, ... |
OMIM:603903 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor, Exertional dyspnea |
ORPHA:90036 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... |
ORPHA:1335 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:401935 |
Lambotte Syndrome |
|
Ventricular septal defect, Semilobar holoprosencephaly |
OMIM:245552 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Axial muscle stiffness |
ORPHA:240085 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea, Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... |
OMIM:617022 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fiber... |
OMIM:300219 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, H... |
ORPHA:3426 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Ventricular septal defect, Spina bifida, Tracheo... |
ORPHA:1393 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... |
OMIM:619909 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dy... |
ORPHA:199241 |
Emanuel Syndrome |
|
Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Hydr... |
OMIM:609029 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent... |
OMIM:605275 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations, Exertional dyspnea |
ORPHA:86839 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Nipah Virus Disease |
|
Respiratory distress, Hypotension, Cough |
ORPHA:99825 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion |
ORPHA:3392 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Nonimmune hydrops fetalis, Respiratory insuffi... |
OMIM:166210 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Camptodac... |
ORPHA:99776 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture |
ORPHA:89842 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Edema, Myocarditis, Dyspnea, Hypertension, Pleural empyema, Pallor, Pancreatitis, Hype... |
ORPHA:544482 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Death in childhood |
OMIM:246450 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Respiratory distress |
OMIM:610536 |
3C Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abn... |
ORPHA:7 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten... |
ORPHA:85450 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Restrictive ventilat... |
OMIM:600462 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Dry skin |
ORPHA:508542 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... |
ORPHA:96191 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... |
ORPHA:90068 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... |
OMIM:615879 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal de... |
OMIM:610733 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebral ischemia |
ORPHA:927 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect |
OMIM:218350 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... |
OMIM:617478 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory ... |
ORPHA:1488 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... |
OMIM:614653 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Death in infancy, Redundant neck skin, Ventricular septal defect, Polyhydramnios, L... |
OMIM:235255 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... |
OMIM:601186 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... |
OMIM:619542 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Hydrocephalus, Rhabdomyolysis, Hepatic calcification... |
ORPHA:157 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ventricular septal defect, Fetal ascites, Polyhydramnios, Neonatal asphyxia... |
ORPHA:141127 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, P... |
OMIM:105650 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Cardiac arrest, Myocarditis, Angioedema, Er... |
ORPHA:139402 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Atrial septal defect, U... |
OMIM:619769 |
Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Miscarriage, Myocardial infarction, Congesti... |
ORPHA:902 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Hydrocephalus, Pate... |
OMIM:269860 |
Farber Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... |
ORPHA:333 |
Emanuel Syndrome |
|
Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma... |
ORPHA:96170 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Recurrent sinusitis |
ORPHA:85202 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Neonatal respiratory distress, Respiratory distress, Elevated ... |
OMIM:260400 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Cardiomyopathy, Hypertension |
OMIM:102200 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... |
OMIM:613309 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... |
OMIM:618494 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Polyhydramnios, Contractures o... |
ORPHA:329178 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... |
ORPHA:2970 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ... |
ORPHA:509 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Pr... |
ORPHA:31204 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Ging... |
ORPHA:98870 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure |
ORPHA:3077 |
Agel Amyloidosis |
|
Facial palsy, Edema, Xerostomia, Bruising susceptibility, Cutis laxa, Cardiomyopathy, Blepharocha... |
ORPHA:85448 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Apnea, Cardiomegaly, Secundum atrial ... |
OMIM:300855 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Letterer-Siwe Disease |
|
Dyspnea, Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... |
OMIM:211530 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... |
ORPHA:340 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia |
OMIM:617450 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Poly... |
OMIM:301056 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... |
OMIM:618027 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Flexion contracture, Edema of the dorsum of feet, Edema of the dorsum of hands |
ORPHA:544503 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:261344 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:243800 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin, Congestive heart failure |
ORPHA:137608 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cholestasis, Hypertension, R... |
ORPHA:52 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hepatomegaly, Scapular winging, Hip contracture, Limb joint contracture, Sh... |
OMIM:620369 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Patent ductus arteriosus, Ventricular septal defect, Exocrine pancreatic insuff... |
ORPHA:452 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atr... |
OMIM:618316 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Macroglossia, Arthrogryposis-like hand anom... |
ORPHA:369891 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Atrial septal... |
OMIM:612582 |
Ogden Syndrome |
|
Torticollis, Ventricular septal defect, Cutis laxa, Cardiogenic shock, Arrhythmia |
ORPHA:276432 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Calf muscle... |
OMIM:615673 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff... |
ORPHA:363623 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly |
OMIM:301039 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... |
ORPHA:142 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Ca... |
OMIM:256040 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Respiratory failure requiring assisted ventilation, Abnorm... |
ORPHA:576 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... |
OMIM:618280 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... |
OMIM:619991 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Perimembranous ventricular septal defec... |
OMIM:600987 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Sudden cardiac death, Situs inversus totalis, Cong... |
ORPHA:991 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Flexion contracture, Ventricular septal defect, Recurrent aspirati... |
ORPHA:79243 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:616901 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Dehy... |
OMIM:557000 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... |
OMIM:615067 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atr... |
ORPHA:488618 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Redundant neck skin, Redundant skin, Congestive heart failure, Dilatation o... |
ORPHA:90348 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... |
ORPHA:254346 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Restrictive ventilatory defect,... |
OMIM:203300 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... |
OMIM:271225 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Pneumonia, Polyh... |
OMIM:619488 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Neonatal death, Atrial s... |
OMIM:265380 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness |
OMIM:169400 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios |
ORPHA:261304 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced for... |
OMIM:613686 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Decreased pyruvate carboxylase activity, Concentric hyper... |
OMIM:601992 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di... |
ORPHA:477817 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Polyhydramnios |
ORPHA:2759 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Polyhydramnios |
OMIM:219730 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Pallor, Hypotension, Elevated total serum tryptase |
ORPHA:98849 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Respiratory distress, Transient ischemic attack, Elevated alkaline phosp... |
ORPHA:51608 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Anomalous pulmonary venous... |
ORPHA:2311 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Aspira... |
ORPHA:258 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Asthma, Patent ductus arteriosus, Abnormal h... |
ORPHA:444077 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Ventricular septal defect, Polyhydramnios, Hematochezia, Interface hepatitis, D... |
OMIM:243150 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Patent ductus arteriosus |
ORPHA:166272 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... |
ORPHA:2369 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Erythema, Retinal ... |
ORPHA:464 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Apneic episodes in infancy, Ventricular septal defect |
ORPHA:3078 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... |
ORPHA:330021 |
Phaver Syndrome |
|
Myelomeningocele, Ventricular septal defect, Camptodactyly of finger |
ORPHA:2876 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Congestive heart failure, Edema |
ORPHA:2505 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy |
OMIM:619272 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defe... |
OMIM:617360 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Dermal translucency, Torticollis, Multiple joint contractures, Repeated pne... |
ORPHA:536467 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Pallor, Atrial s... |
ORPHA:124 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Abnormal circulating enzyme concentration or activity, Neonatal respiratory distre... |
ORPHA:79345 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Diaphanospondylodysostosis |
|
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Abnormal liver lo... |
OMIM:608022 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal d... |
OMIM:619534 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated gamma-glutamyltransferase level, Atrial septal defect, Intrahepatic biliary dysgenesis, ... |
OMIM:614866 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Hydrocephalus, Vasculit... |
ORPHA:228123 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... |
ORPHA:1830 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... |
OMIM:609942 |
Plague |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Respiratory distress, Edema, Hematemesis, Splenomeg... |
ORPHA:707 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Low alkaline phosphatase, Macroglossia, ... |
OMIM:618143 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Joint contracture of th... |
OMIM:201000 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Camptodactyly, ... |
OMIM:619123 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Torticollis, Congestive heart failure, Abn... |
ORPHA:48818 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:1923 |
Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... |
ORPHA:79280 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Asthma, Atrial septal... |
OMIM:616777 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Anemic pallor, Abnormal heart morphology |
OMIM:600901 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Conge... |
ORPHA:2092 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningoce... |
OMIM:130720 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteriosus, Partial anomalous pu... |
OMIM:619657 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
1P36 Deletion Syndrome |
|
Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the spleen, Patent ductu... |
ORPHA:1606 |
Zellweger Syndrome |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Jaundice, Respiratory insufficiency, H... |
ORPHA:912 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hydrocephalus, Elbow flexio... |
OMIM:245600 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Congestive heart failure, Hepatitis, Renovascular hypertension, Hepatosplenomegaly, Bronchiectasi... |
ORPHA:391487 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f... |
ORPHA:558 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness, Inspira... |
OMIM:207950 |
Hutchinson-Gilford Progeria Syndrome |
|
Congestive heart failure, Angina pectoris, Myocardial infarction |
OMIM:176670 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect, Holoprosencephaly |
ORPHA:77298 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Camptodactyly |
OMIM:619980 |
Trisomy 13 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis |
ORPHA:3378 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... |
ORPHA:2140 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Bruising susceptibility, Macroglos... |
OMIM:230000 |
Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Anemic pallor, Abnormal heart morphology |
OMIM:227650 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Xerostomia, Respiratory distress |
ORPHA:1051 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Ventricular septal defect |
ORPHA:1458 |
Marfan Syndrome |
|
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... |
OMIM:154700 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot... |
OMIM:115470 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Polyhydramnios, Splenomegaly, Pancr... |
ORPHA:1655 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Hepatoblast... |
ORPHA:84064 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... |
OMIM:264480 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Polyhydramnios, Intermittent episodes of respiratory insufficiency due to ... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Polyhydramnios, Intermittent episodes of respiratory insufficiency due to ... |
ORPHA:98914 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly |
ORPHA:300298 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Ventricular septal defect, Anemic pallor, Bruising susceptibility |
OMIM:227645 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphology, Annular pancre... |
OMIM:227646 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Neonatal respiratory distress, Patent ductus arteriosus, Ventricular septal... |
ORPHA:457193 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... |
ORPHA:3097 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Large placenta, Sp... |
OMIM:222470 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Peroneal muscle atro... |
ORPHA:2388 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Moebius Syndrome |
|
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly,... |
OMIM:157900 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Patent ductus arteriosus, Respiratory distress |
OMIM:300968 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachyca... |
OMIM:181270 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
Williams Syndrome |
|
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Periorbital edema, At... |
ORPHA:904 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:617452 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Congenital diaphragm... |
OMIM:600001 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Death in infancy, Hydrocephalus, Ventricular septal defect |
OMIM:300514 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... |
ORPHA:2463 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Apnea, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contractur... |
ORPHA:97297 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Flexion contracture, Atrioventricular bl... |
ORPHA:581 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common... |
OMIM:619702 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia |
OMIM:616920 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Limb muscle weakness, Cirrh... |
ORPHA:1546 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... |
OMIM:187300 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Pallor, Intrahepatic bile duct dilatation |
OMIM:616307 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Congestive heart failure, Pedal edema |
ORPHA:247353 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia, Polyhydramnios |
OMIM:617180 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Bohring-Opitz Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Flexion contracture, Cu... |
OMIM:605039 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1770 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency |
OMIM:260450 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Polyhydramnios, Contrac... |
OMIM:114290 |
Infantile Krabbe Disease |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Abnormal heart rate ... |
ORPHA:206436 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Patent ductus arteriosus, Abnormal heart morphology, Patent foramen ovale, ... |
ORPHA:177907 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left h... |
OMIM:100300 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Limb joint contracture, Ventricular septal defect |
ORPHA:505237 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypotension, Arrhythmia, Dry skin, Abnormal pattern of respiration |
ORPHA:428 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Polyhydramnios, Patent ductus arteriosus, Elev... |
OMIM:618188 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
Aregenerative Anemia |
|
Abnormal bleeding, Dyspnea, Bruising susceptibility, Pallor |
ORPHA:101096 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Respiratory distress, Truncus arteriosus, Ventricula... |
ORPHA:508488 |
Schisis Association |
|
Encephalocele, Congenital diaphragmatic hernia, Anencephaly, Spina bifida |
ORPHA:63862 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Abnormal EKG, Miscarriage, Myocarditis, Myelopathy, Splenomegaly, Con... |
ORPHA:3385 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Abnormality of the pancreas, Hydrocephalus, Hypertension, Umbilical hernia |
ORPHA:1555 |
Acrocardiofacial Syndrome |
|
Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial sep... |
ORPHA:2008 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... |
OMIM:616449 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... |
ORPHA:457279 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... |
OMIM:182250 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Gitelman Syndrome |
|
Prolonged QT interval, Respiratory distress, Neoplasm of the pancreas, Pericardial effusion, Rayn... |
ORPHA:358 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Myelopathy, Limb muscle weakness, Decreased circulating biotinidase ... |
ORPHA:79241 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia... |
ORPHA:3380 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Radio-Tartaglia Syndrome |
|
Dry skin, Ventricular septal defect, Striae distensae |
OMIM:619312 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Death in infancy, Spina bifida, Limb hypertonia |
ORPHA:99742 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor |
OMIM:617675 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy |
ORPHA:37612 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Sh... |
OMIM:256520 |
Muscle-Eye-Brain Disease |
|
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Ventricular septal defect, Bicu... |
OMIM:619475 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Polyhydramnios |
OMIM:151210 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Hypertension, Respirat... |
ORPHA:805 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Oligohydramnios |
OMIM:620113 |
Tay-Sachs Disease |
|
Aspiration, Pallor |
OMIM:272800 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Atrial septal defect, Spina bifida, Patent ductus arteriosus, Chronic pulmonary o... |
ORPHA:567 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Dehydration |
OMIM:251110 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Atrio... |
OMIM:617088 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Heart mur... |
ORPHA:163979 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Atr... |
OMIM:616546 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspl... |
OMIM:270100 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Subarachnoid hemorrhage, Myelopathy, High-output congestive heart failure, Ski... |
ORPHA:90307 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Joint swelling, Respiratory distress |
OMIM:612852 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Scapular winging, Camptodactyly of finger, Spina bifida |
ORPHA:1327 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
19Q13.11 Microdeletion Syndrome |
|
Dry skin, Ventricular septal defect |
ORPHA:217346 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Pallor |
ORPHA:35858 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypopla... |
OMIM:274000 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... |
OMIM:244300 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Death in infancy, Meningocele |
ORPHA:2481 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrocephalus, Incr... |
ORPHA:3472 |
Costello Syndrome |
|
Redundant neck skin, Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Tracheomalacia,... |
OMIM:218040 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cardiomegaly, Raynaud pheno... |
ORPHA:51 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Abnormal bleeding, Anemic pallor, Edema |
ORPHA:329971 |
C Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cutis laxa |
OMIM:211750 |
Orotic Aciduria |
|
Atrial septal defect, Reduced orotidine 5-prime phosphate decarboxylase level, Ventricular septal... |
OMIM:258900 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Aortic valve calcification, Congestive heart... |
ORPHA:79474 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Camptodactyly, Atri... |
OMIM:300963 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Secundum atrial s... |
OMIM:616268 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Redundant neck skin... |
OMIM:214100 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Dry skin, Pul... |
ORPHA:163956 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... |
OMIM:620024 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... |
OMIM:225400 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Polyhydramnios, Apnea, Tracheomalacia, Hydrocephalus, Pa... |
OMIM:300373 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
OMIM:616368 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Redundant skin, Camptodactyly of finger, Patent ductus arteriosus, Atr... |
ORPHA:96167 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Macroglossia, Tracheomalacia, Arrhythm... |
ORPHA:261494 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Holoprosencephaly, Congenital diaphragmatic hernia |
OMIM:612530 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pn... |
OMIM:300472 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Accessory spleen, Ventricular septal defect, Spina bifida, Polyhydramnios, ... |
OMIM:180849 |
Kniest Dysplasia |
|
Hip contracture, Umbilical hernia, Respiratory distress, Tracheomalacia |
OMIM:156550 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617159 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Redundant neck skin, Hydrocephalus, Hypertension, Palmoplantar cutis laxa |
OMIM:123790 |
Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Childhood Absence Epilepsy |
|
Pallor, Hyperventilation |
ORPHA:64280 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Rig... |
OMIM:617506 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... |
OMIM:610443 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction, Jaundice, Prolonged neona... |
OMIM:274150 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Hydrops fetalis, Trach... |
ORPHA:268249 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Aortopulm... |
OMIM:620025 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Fountain Syndrome |
|
Facial edema, Erythema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
De Barsy Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Patent ductus arteriosus, Cutis laxa, Excessive... |
ORPHA:2962 |
Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge... |
OMIM:117550 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, L... |
ORPHA:116 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s... |
OMIM:619418 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... |
ORPHA:508498 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Polyhydramnios, Hydrocephalus, Upper airway obstruction |
OMIM:100800 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Oligohydramnios |
ORPHA:96201 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect, Holoprosencephaly |
ORPHA:261236 |
Japanese Encephalitis |
|
Respiratory distress, Skeletal muscle atrophy, Irregular respiration, Facial palsy, Elbow flexion... |
ORPHA:79139 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis |
OMIM:614114 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... |
ORPHA:1780 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Dehydration |
OMIM:251100 |
Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Ventricular septal defect |
OMIM:617164 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital ... |
ORPHA:1692 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Dyspnea, Tendon xanthomatosis, Hear... |
ORPHA:391665 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios |
OMIM:615503 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Hepatomegaly, Bundle branch block, Death in infancy, Ventricular septal de... |
ORPHA:373 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic ... |
OMIM:222448 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Flexion contracture, Ventricular septal defect, Dry skin |
OMIM:619306 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... |
OMIM:257920 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:610338 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Asthma, Respiratory insuffic... |
ORPHA:488632 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pallor |
ORPHA:90045 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Camptodactyl... |
OMIM:617602 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect, ... |
ORPHA:769 |
Wildervanck Syndrome |
|
Meningocele, Facial palsy |
ORPHA:3456 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Dilated cardiomyopathy, Flexion contracture, Foot joint contracture |
ORPHA:79408 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... |
OMIM:607721 |
Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect |
ORPHA:2438 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Apnea, Hydrocephalus, Patent ductus arteriosus, Airway obstruction, Pr... |
OMIM:602535 |
Den Hoed-De Boer-Voisin Syndrome |
|
Dry skin, Ventricular septal defect, Death in adolescence, Oligohydramnios |
OMIM:619229 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... |
ORPHA:2162 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Spina bifida, Raynaud phenomenon, Lymphedema, Arrhythmia |
ORPHA:2874 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Congeni... |
OMIM:615582 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Death in infancy, Ventricular septal defect, Shoulder flexion contracture, Hydro... |
OMIM:210710 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri... |
OMIM:300998 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... |
OMIM:614294 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, ... |
OMIM:618268 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hydrops fetalis, Hepatic... |
OMIM:263520 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios |
ORPHA:50810 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... |
OMIM:618733 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Abnormal heart morphology, Macroglossia, Neural tube d... |
ORPHA:798 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Chylothorax, ... |
OMIM:163950 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Recurrent pneumonia, Atrial septal defect, Pulmonary arterial hyperten... |
ORPHA:464738 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:309520 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Meningocele, Respiratory insufficiency |
ORPHA:2031 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema |
OMIM:606232 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect |
OMIM:183900 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bile duct proliferation, Meningocele, Anencephaly |
OMIM:603194 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios |
OMIM:611812 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Alström Syndrome |
|
Respiratory distress, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatic steatos... |
ORPHA:64 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... |
OMIM:178110 |
Down Syndrome |
|
Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Patent du... |
OMIM:190685 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary a... |
OMIM:618454 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Myositis, Pneumonia, Splenomegaly, Hepatitis... |
ORPHA:37042 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Tracheomalac... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Tracheomalac... |
ORPHA:363958 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Cardiomyopathy, Bronchospasm, Umbilical h... |
ORPHA:33364 |
Jacobsen Syndrome |
|
Death in infancy, Ventricular septal defect, Spina bifida, Annular pancreas, Hypoplastic left hea... |
ORPHA:2308 |
Duane-Radial Ray Syndrome |
|
Upper limb muscle hypoplasia, Ventricular septal defect, Facial palsy, Small thenar eminence, Pec... |
OMIM:607323 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Pat... |
ORPHA:2745 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Interphalangeal joint contracture o... |
ORPHA:96334 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Occipital encephalocele, Redundant neck skin, Apnea, Meningocele, ... |
ORPHA:397715 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Multiple Endocrine Neoplasia Type 2 |
|
Proximal amyotrophy, Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertensi... |
ORPHA:653 |
Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Abnormality of the liver, Abnormal cardiac... |
ORPHA:84 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Biliary hyperplasia, Contracture of the distal interphalangea... |
ORPHA:83617 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida |
ORPHA:957 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... |
ORPHA:2209 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Hypoplastic left h... |
OMIM:301043 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, A... |
ORPHA:1708 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Atri... |
ORPHA:261330 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, P... |
ORPHA:261337 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis |
ORPHA:98805 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... |
OMIM:616894 |
Opitz Gbbb Syndrome |
|
Umbilical hernia, Ventricular septal defect, Aspiration |
OMIM:300000 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Paten... |
ORPHA:464311 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis |
ORPHA:93958 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... |
ORPHA:3138 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, S... |
ORPHA:955 |
Hallermann-Streiff Syndrome |
|
Tracheomalacia, Congestive heart failure, Abdominal situs inversus, Respiratory insufficiency |
ORPHA:2108 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe... |
OMIM:236680 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Unilateral f... |
OMIM:619480 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Keutel Syndrome |
|
Sinusitis, Miscarriage, Ventricular septal defect, Hypertension, Pulmonic stenosis, Emphysema, Ch... |
OMIM:245150 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Hydrocephalus, Ventricular septal defect |
OMIM:619575 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... |
OMIM:139210 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent... |
OMIM:164280 |
Alobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate... |
ORPHA:220386 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... |
ORPHA:137914 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... |
ORPHA:2461 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect |
ORPHA:251038 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hydrocephalus, Flexion contracture, Holoprosencephaly, Atrial septal d... |
OMIM:147791 |
Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Fetal ascites, Flexion contracture, Knee flexion contracture, Facial erythema, Scaling ski... |
OMIM:619503 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Limb hypertonia |
OMIM:609460 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... |
OMIM:614609 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h... |
ORPHA:444072 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Polyhydramnios, Hepatitis, Abnormal ductus choledochus morphology, Per... |
ORPHA:436252 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Hydrocephalus, Patent... |
ORPHA:96121 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prol... |
ORPHA:363700 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Death in childhood |
OMIM:600460 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Exertional dyspnea, Pallor, ... |
OMIM:233450 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios |
OMIM:600373 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Spina bifida, Polyhydramnios, Flexion contracture, Lack of skin elastici... |
ORPHA:2671 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Polyhydramnios, Stillbirth, Aplasia of the ... |
OMIM:229850 |
Pallister-Hall Syndrome |
|
Neonatal death, Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly |
OMIM:146510 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary valve atresia, Spina bifida occulta, Ventricular septal defect |
OMIM:301030 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Facial hypotonia |
ORPHA:438216 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Facial hypotonia, Intrinsic ha... |
OMIM:615273 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Generalized amy... |
OMIM:613776 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Camptodactyly |
OMIM:272950 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... |
ORPHA:1519 |
Iniencephaly |
|
Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Polyhydramnios, Hydrocephalus, Myel... |
ORPHA:63259 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... |
ORPHA:352665 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... |
OMIM:249420 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
Carney Complex |
|
Neoplasm of the pancreas, Cardiac myxoma, Congestive heart failure, Hypertension, Hepatocellular ... |
ORPHA:1359 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Hepatoblastoma, Atrial septal defect, Hepatomega... |
OMIM:312870 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Abnormal heart morphology, A... |
ORPHA:1465 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Arima Syndrome |
|
Hepatomegaly, Dyspnea, Tachypnea, Hypertension, Hepatic fibrosis, Cirrhosis, Occipital meningocel... |
OMIM:243910 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Absent gallbladder, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300712 |
Oculodentodigital Dysplasia |
|
Umbilical hernia, Arrhythmia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:2710 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... |
OMIM:118450 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Recurrent pneumonia, Telangiectasia, Hypertension, Tracheomalacia, Pulmonary arteri... |
OMIM:234100 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... |
ORPHA:464306 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect |
OMIM:244450 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Okamoto Syndrome |
|
Redundant neck skin, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology,... |
ORPHA:2729 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Phace Association |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Larsen Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Tracheomalacia |
OMIM:150250 |
Chime Syndrome |
|
Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ... |
ORPHA:3474 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Splenomegaly, Hydrocephalus, Patent du... |
OMIM:270400 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:618846 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Camptodactyly of finger, Spina bifida |
ORPHA:2839 |
Velocardiofacial Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:192430 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Prolonged prothrombin time, Hepatic hemangioma, Petechiae, Purpura |
ORPHA:2330 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, A... |
ORPHA:480880 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart |
OMIM:277170 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly o... |
ORPHA:1507 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Upper airway obstruction |
ORPHA:1827 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Um... |
ORPHA:97360 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr... |
ORPHA:3047 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Flexion contracture, Camptodactyly, Emphysema, Joint cont... |
OMIM:224690 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Spina bifida, Edema |
OMIM:616038 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosu... |
OMIM:117650 |
Lathosterolosis |
|
Hepatomegaly, Meningocele, Intrahepatic cholestasis, Hepatic failure |
ORPHA:46059 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... |
ORPHA:63260 |
Doors Syndrome |
|
Respiratory distress, Polyhydramnios, Sirenomelia, Aspiration pneumonia, Double outlet right vent... |
ORPHA:79500 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:251014 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation... |
ORPHA:438213 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Increased nuchal tran... |
ORPHA:818 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... |
ORPHA:268810 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect, Dry skin, Patent for... |
OMIM:619268 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Pneumonia, Asth... |
ORPHA:353281 |
Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse |
OMIM:617107 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Holoprosencephaly |
OMIM:613884 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
Apert Syndrome |
|
Hydrocephalus, Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Double ou... |
OMIM:300166 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Aqueductal stenosis, Hydrocephalus, P... |
OMIM:154400 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Trisomy 20P |
|
Umbilical hernia, Camptodactyly of finger, Spina bifida |
ORPHA:261318 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Multiple joint contractures, A... |
ORPHA:79318 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Umbilical hernia, Hydrocephalus, Ventricular septal defect |
OMIM:102500 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Muscular dystrophy, Pallor |
OMIM:253280 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Subarterial ven... |
ORPHA:99646 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ... |
ORPHA:3206 |
Nail-Patella Syndrome |
|
Biceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia, Quadriceps apl... |
OMIM:161200 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Adnp Syndrome |
|
Respiratory distress, Umbilical hernia, Aspiration |
ORPHA:404448 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Dry skin, Periorbital wrinkles |
OMIM:305100 |
Otopalatodigital Syndrome, Type Ii |
|
Elbow contracture, Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failure, S... |
OMIM:304120 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... |
OMIM:271640 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... |
ORPHA:268261 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... |
OMIM:613458 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Fl... |
OMIM:617140 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353277 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... |
ORPHA:95455 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios |
OMIM:608670 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Annular pancreas |
OMIM:616975 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele, Dry skin, Facial erythema, Scaling skin, Flexion contracture of finger |
ORPHA:1010 |
Cornelia De Lange Syndrome 1 |
|
Elbow flexion contracture, Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia |
OMIM:122470 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly, Umbilical hernia |
OMIM:616145 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Hydroceph... |
OMIM:268300 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger |
ORPHA:2554 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Death in childhood, Campt... |
OMIM:309500 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Holoprosencephaly, ... |
OMIM:615948 |
Omodysplasia 1 |
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Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:258315 |
Digeorge Syndrome |
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Ventricular septal defect, Cholelithiasis, Splenomegaly, Asthma, Chronic pulmonary obstruction, R... |
OMIM:188400 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint... |
ORPHA:459070 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Flexion contracture, Mitra... |
OMIM:194050 |
Vacterl With Hydrocephalus |
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Aqueductal stenosis, Hydrocephalus, Polyhydramnios, Spina bifida |
ORPHA:3412 |
Osteoglophonic Dysplasia |
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Respiratory distress, Camptodactyly of finger |
OMIM:166250 |
Early Infantile Epileptic Encephalopathy |
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Umbilical hernia, Ventricular septal defect |
ORPHA:1934 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Penetr... |
ORPHA:573278 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Ventricular septal defect |
ORPHA:1071 |
Neurofibromatosis, Type I |
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Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension |
OMIM:162200 |
Charge Syndrome |
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Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Peters-Plus Syndrome |
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Ventricular septal defect, Diastasis recti, Polyhydramnios, Bilobate gallbladder, Hydrocephalus, ... |
OMIM:261540 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Decreased muscle mass, Ventricular septal defect, Hydrocephalus, Biliary tract ... |
OMIM:194190 |
Proboscis Lateralis |
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Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly |
ORPHA:141099 |
Femoral-Facial Syndrome |
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Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Cleidocranial Dysplasia 1 |
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Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect |
OMIM:619727 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Generalized muscle hypertrophy, Abnormal hea... |
OMIM:235730 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Distal arthrogryp... |
ORPHA:672 |
Penile Agenesis |
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Atrial septal defect, Ventricular septal defect, Oligohydramnios |
ORPHA:49 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Tracheomalacia, Lower-limb joint contracture, Ventricular septal defect |
ORPHA:513456 |
Coffin-Siris Syndrome 1 |
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Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Tetralogy o... |
OMIM:135900 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele |
ORPHA:2003 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Asthma, Nasal flaring |
ORPHA:466943 |
Pallister-Killian Syndrome |
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Edema of the dorsum of feet, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydr... |
OMIM:601803 |
Sotos Syndrome |
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Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F... |
ORPHA:821 |
Kabuki Syndrome 1 |
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Atrial septal defect, Hydrocephalus, Ventricular septal defect, Recurrent aspiration pneumonia |
OMIM:147920 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect |
OMIM:259770 |
Sirenomelia |
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Spina bifida, Sirenomelia |
ORPHA:3169 |
Ulnar-Mammary Syndrome |
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Elbow flexion contracture, Arrhythmia, Ventricular septal defect |
OMIM:181450 |
Phocomelia, Schinzel Type |
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Meningocele, Hydrops fetalis |
ORPHA:2879 |
Aicardi Syndrome |
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Hepatoblastoma, Recurrent pneumonia, Spina bifida |
OMIM:304050 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Umbilical hernia, Asthma, Recurrent pneumonia, Ventricular septal defect |
OMIM:620330 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Yunis-Varon Syndrome |
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Redundant neck skin, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Ca... |
OMIM:216340 |
Orofaciodigital Syndrome Type 14 |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Townes-Brocks Syndrome 1 |
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Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Umbilical hern... |
OMIM:107480 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Genitopatellar Syndrome |
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Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept... |
OMIM:606170 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida |
ORPHA:93929 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis |
OMIM:614748 |
Cornelia De Lange Syndrome |
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Atrial septal defect, Increased nuchal translucency, Ventricular septal defect, Congenital diaphr... |
ORPHA:199 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619522 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Respiratory failure, Pneumothorax, Oligohydramnios |
ORPHA:3404 |
Knobloch Syndrome 1 |
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Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Hydrocephal... |
OMIM:164210 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Asplenia, ... |
ORPHA:261552 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele, Elbow flexion contracture |
OMIM:276820 |