46,Xy Sex Reversal 9 |
|
Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia |
OMIM:616067 |
Idiopathic Isolated Micropenis |
|
Ambiguous genitalia, Micropenis, Hypospadias |
ORPHA:95707 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Myxoma, Intracardiac |
|
Cardiac myxoma, Pulmonic valve myxoma, Bacterial endocarditis |
OMIM:255960 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Isochromosomy Yq |
|
Decreased testicular size, Gonadal tissue inappropriate for external genitalia or chromosomal sex... |
ORPHA:98798 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Congenital Heart Block |
|
First degree atrioventricular block, Atrioventricular block, Hydrops fetalis, Pallor, Vaginal bir... |
ORPHA:60041 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
46,Xy Sex Reversal 5 |
|
Sex reversal |
OMIM:613080 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia |
OMIM:209970 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... |
OMIM:615542 |
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, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Pulmonary hy... |
OMIM:615524 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Telangiectasia, Hepatosp... |
ORPHA:101028 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Male pseudohermaphroditis... |
OMIM:400044 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia |
OMIM:613571 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... |
ORPHA:90308 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... |
OMIM:253300 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Perineal hypospadias, Ambiguou... |
ORPHA:753 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ... |
ORPHA:185 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... |
OMIM:618052 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... |
ORPHA:1329 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis |
OMIM:217085 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive c... |
OMIM:619433 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:2847 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, Neonatal de... |
OMIM:619003 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C... |
ORPHA:2414 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619048 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si... |
OMIM:610644 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration |
ORPHA:79159 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Prena... |
ORPHA:45453 |
Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
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 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:614224 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... |
ORPHA:49827 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis |
ORPHA:295 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis |
OMIM:264600 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Lef... |
ORPHA:75249 |
Renal Tubular Dysgenesis |
|
Premature birth, Polyhydramnios, Pulmonary hypoplasia, Tetralogy of Fallot, Oligohydramnios |
ORPHA:3033 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... |
ORPHA:261529 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardi... |
OMIM:618815 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... |
ORPHA:163596 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Cardiomyopathy, Abnor... |
OMIM:608540 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios |
OMIM:615731 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Decreased fetal movement, Premature birth, Spinal muscular atrophy, Secundum atrial septal defect... |
OMIM:616866 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Sex reversal, Hypospadias, Ovotestis |
OMIM:611812 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Neonata... |
OMIM:608978 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... |
ORPHA:57777 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops feta... |
OMIM:269920 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... |
OMIM:255160 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... |
OMIM:253250 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, ... |
OMIM:617022 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, Hypogonadotropic hypogonadism |
ORPHA:752 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... |
ORPHA:563 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... |
OMIM:612863 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... |
ORPHA:330001 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... |
ORPHA:90064 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Hy... |
OMIM:232500 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... |
ORPHA:3405 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Sex reversal |
OMIM:613743 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia |
ORPHA:324588 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia |
OMIM:614209 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:614100 |
Partial Atrioventricular Septal Defect |
|
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... |
ORPHA:1330 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia |
ORPHA:171719 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis, Webbed neck |
OMIM:301950 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular hypertrophy, Oligohydra... |
OMIM:616733 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Nonimmune hydrops fetalis, ... |
ORPHA:367 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... |
OMIM:256550 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, A... |
OMIM:614702 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy |
OMIM:264270 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir... |
OMIM:602390 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Premature birth, Spleno... |
OMIM:608149 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial palsy, Cardiogenic... |
OMIM:619424 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... |
ORPHA:3287 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... |
OMIM:617194 |
Fanconi Anemia, Complementation Group Q |
|
Primum atrial septal defect |
OMIM:615272 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve |
OMIM:300958 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... |
OMIM:264480 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Patent... |
OMIM:601186 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... |
OMIM:618234 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat... |
OMIM:613313 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Webbed neck |
ORPHA:638 |
Sandhoff Disease |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Congestive heart failure, Cherry re... |
ORPHA:796 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic car... |
OMIM:615279 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart failure, Flexion c... |
ORPHA:1194 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology |
ORPHA:3346 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal lung l... |
ORPHA:1120 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276556 |
Thanatophoric Dysplasia |
|
Redundant skin, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Pulmonar... |
ORPHA:2655 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Rhabdomyoly... |
OMIM:212138 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Pa... |
OMIM:613561 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276575 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, Myocarditis... |
ORPHA:3099 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve |
ORPHA:228190 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly... |
OMIM:235200 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Pulmonary hypoplasia, Polyhydramnios |
OMIM:613124 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Atrial septal defect, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Congenital Myopathy 11 |
|
Elevated hepatic transaminase, Decreased fetal movement, Polyhydramnios, Breech presentation, Pat... |
OMIM:619967 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Abnormal mitral valve morpholog... |
ORPHA:1192 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Thickened nuchal skin fold, Congenital diaphragmatic hernia, Polyhydramnios, Flexion contracture,... |
OMIM:263210 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skel... |
OMIM:255320 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ... |
ORPHA:137667 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Parachute mitral va... |
OMIM:618316 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... |
OMIM:212140 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... |
ORPHA:500533 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276580 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... |
OMIM:617468 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Hy... |
OMIM:616897 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Webbe... |
OMIM:609942 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... |
OMIM:250790 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... |
OMIM:615355 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Dk1-Cdg |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... |
ORPHA:91131 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K... |
OMIM:616531 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Card... |
ORPHA:3386 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin, Pulmonary hypoplasia, Anhydramnios |
OMIM:615721 |
Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Heart... |
ORPHA:99931 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... |
OMIM:208000 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... |
OMIM:265380 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2141 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure... |
ORPHA:206569 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Pulm... |
ORPHA:1335 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... |
ORPHA:555877 |
Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmonary hypo... |
ORPHA:3032 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:300978 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology |
ORPHA:70472 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:604381 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... |
OMIM:616028 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale |
OMIM:247610 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... |
ORPHA:1349 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Pulmonary hypoplasia, Transposition of the great arteries, Neonatal death, Atrioven... |
OMIM:314390 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria... |
ORPHA:2257 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure, Premature birth, Redundant skin |
OMIM:301021 |
Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
3-Methylglutaconic Aciduria, Type Iv |
|
Biventricular hypertrophy, Subvalvular aortic stenosis |
OMIM:250951 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy... |
ORPHA:1166 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration |
OMIM:618330 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Premature birth, Cardiomegaly, Patent ductus arteriosus, Pa... |
ORPHA:95430 |
Alg3-Cdg |
|
Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, Pulmonary hypoplasia, De... |
ORPHA:79321 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect, Thin skin |
OMIM:617364 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia |
OMIM:614654 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2140 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Weakness of facial m... |
OMIM:620265 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Multiple Pterygium Syndrome, X-Linked |
|
Edema, Polyhydramnios, Fetal akinesia sequence, Flexion contracture, Amyoplasia, Pulmonary hypopl... |
OMIM:312150 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Striae distensae, Thickened nuchal ... |
ORPHA:758 |
Stiff Skin Syndrome |
|
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture |
OMIM:184900 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Webbed neck |
OMIM:616559 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Hydrops fetalis, Atr... |
ORPHA:3378 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... |
OMIM:607598 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of... |
OMIM:313850 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Premature b... |
ORPHA:354 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Pulmonary hypoplasia, Neonatal death, Art... |
OMIM:253310 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Atrioventricular canal defect, Congenitally cor... |
OMIM:618300 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Fetal Gaucher Disease |
|
Hepatomegaly, Decreased fetal movement, Fetal akinesia sequence, Abnormality of the spleen, Splen... |
ORPHA:85212 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology |
ORPHA:2412 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C... |
OMIM:618280 |
Tyshchenko Syndrome |
|
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:601163 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... |
OMIM:611174 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Multiple Pterygium Syndrome, Lethal Type |
|
Edema, Polyhydramnios, Fetal akinesia sequence, Flexion contracture, Amyoplasia, Pulmonary hypopl... |
OMIM:253290 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Nephronophthisis 2 |
|
Situs inversus totalis, Hypertension, Pulmonary hypoplasia, Pulmonary insufficiency, Oligohydramnios |
OMIM:602088 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Decreased fetal movement, Multiple joint contractures, Recurrent infecti... |
ORPHA:70 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Mitral valve prolapse, Small thenar eminence, Camptodactyly, Joint con... |
OMIM:211960 |
Congenital Heart Defects, Multiple Types, 7 |
|
Tetralogy of Fallot, Absence of the pulmonary valve, Pulmonic stenosis |
OMIM:618780 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... |
ORPHA:99776 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Hypertension, Hepatic steatosis, Premature coron... |
OMIM:615703 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Mitr... |
OMIM:620244 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Ambiguous genitalia, Male pseudohermaphroditism |
OMIM:202110 |
Acitretin/Etretinate Embryopathy |
|
Premature birth, Conotruncal defect, Third degree atrioventricular block, Bradycardia, Atrioventr... |
ORPHA:40366 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Fetal p... |
OMIM:620167 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Premature birth, Large placenta, Patent ductus arteriosus, Abnormal lu... |
ORPHA:1708 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Calf muscle pseudohypertrophy, Hepatomegaly, Congestive heart failure, Abnorma... |
ORPHA:79083 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Webbed neck |
OMIM:601355 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Single umbilical artery, Aortic root aneurysm, Pulmonary hypoplasia, A... |
OMIM:145420 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Ragged-red muscle fibers, Decreased fetal movement, Polyhydramnios |
OMIM:616794 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis |
OMIM:618624 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
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 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Congestive heart failure, Microvesicular hepatic steatosis, Dilate... |
OMIM:611126 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo... |
ORPHA:848 |
Necrotizing Enterocolitis |
|
Shock, Premature birth, Edema, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, ... |
ORPHA:391673 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal... |
ORPHA:834 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... |
OMIM:609286 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke |
OMIM:182410 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Mitral valve prolapse |
OMIM:609008 |
Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis |
ORPHA:2871 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc... |
OMIM:618652 |
Mitral Valve Prolapse 1 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:157700 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... |
OMIM:614823 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatic steatosis, Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber s... |
ORPHA:2348 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Webbed neck |
ORPHA:2701 |
Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Abnormality of the liver, Myocardial infarction |
ORPHA:132 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Polyhydramnios, Situs inversus totalis |
OMIM:202650 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... |
OMIM:605676 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... |
ORPHA:3426 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal death |
OMIM:618839 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Mitral valve calcification, Hepatomegaly, Abnormal heart valve ... |
ORPHA:77261 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... |
OMIM:215045 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral art... |
OMIM:620025 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Hypertrophi... |
OMIM:618835 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Polyhydramnios |
ORPHA:1027 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot, Pulmonary hypoplasia |
OMIM:617925 |
Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Bradycardia |
ORPHA:228346 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
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 |
Optic Atrophy 8 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:616648 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal ... |
ORPHA:87876 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fe... |
ORPHA:1263 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Premature birth, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis... |
ORPHA:70587 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ... |
OMIM:270100 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:300887 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
ORPHA:2123 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... |
OMIM:601808 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Bronch... |
OMIM:123700 |
Mungan Syndrome |
|
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
Alagille Syndrome 2 |
|
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... |
OMIM:610205 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Micronodular cir... |
OMIM:606003 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... |
ORPHA:565612 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Decreased fetal movement, Congestive heart failure, Flexion contracture,... |
ORPHA:157973 |
Noonan Syndrome 5 |
|
Polyhydramnios, Webbed neck, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic ca... |
OMIM:611553 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:600001 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Pleural thickening, Fetal p... |
OMIM:620014 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... |
ORPHA:2326 |
Noonan Syndrome 6 |
|
Polyhydramnios, Edema, Pulmonic stenosis, Webbed neck, Hypertrophic cardiomyopathy |
OMIM:613224 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Legius Syndrome |
|
Supravalvar pulmonary stenosis |
OMIM:611431 |
Meckel Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, True hermaphroditism |
ORPHA:564 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septa... |
ORPHA:79328 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:261344 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Ambiguous genitalia, Hypospadias |
ORPHA:276422 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Hydrops fetalis, Abnormal heart morphology, Single umbilical artery, Pulmona... |
ORPHA:1865 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... |
ORPHA:52430 |
Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:601809 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... |
OMIM:249270 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Thin skin, Mitral valve prolapse |
OMIM:225320 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Increased nuchal translucency, Pneumothorax, Oligohydramnios, Mitral reg... |
OMIM:619879 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulmonary hypoplasia, Dex... |
ORPHA:2437 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly |
OMIM:619123 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Atrial... |
ORPHA:290 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Accessory spleen, Redundant skin, Morgagni diaphragmatic her... |
OMIM:613177 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Thin skin, Mitral valve prolapse |
OMIM:225310 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Lung abscess, Liver abscess, Abnormal pericardium morphology, Cong... |
ORPHA:67 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Hydrops fetalis, Cardiomyopathy, Abnormality of the liver, Muscula... |
ORPHA:88618 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypopl... |
OMIM:620306 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2255 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom... |
ORPHA:91139 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... |
ORPHA:2331 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios... |
OMIM:616564 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Flexion contracture, Hypoplastic aortic arch, Abnormal heart morphology... |
ORPHA:314588 |
Central Core Disease |
|
Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P... |
ORPHA:597 |
Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141179 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Atelectasis, Bronchiectasis, Recurrent lower respiratory t... |
OMIM:620233 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... |
ORPHA:70591 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lung lobation, Stillb... |
OMIM:236680 |
Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Hepatomegaly, Redundant neck skin, Patent ductus arteriosus, At... |
ORPHA:1842 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Cardiofaciocutaneous Syndrome 4 |
|
Ventricular septal hypertrophy, Polyhydramnios, Abnormal aortic valve morphology, Pulmonic stenosis |
OMIM:615280 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:1692 |
Thanatophoric Dysplasia Type 2 |
|
Redundant skin, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Aplasia/... |
ORPHA:93274 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Flexion contracture, Erythema, Bradycardia, Camptodactyly, Neon... |
OMIM:610015 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat... |
ORPHA:465508 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Pulmonary hypoplasia... |
ORPHA:171430 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Decreased fetal movement, Bradycardia |
ORPHA:2898 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... |
ORPHA:26793 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs, Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:168593 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology |
ORPHA:254534 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Premature birth, Congenital diaphragmatic hernia, Secundum atrial sep... |
ORPHA:2260 |
Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary... |
OMIM:614185 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundant skin, Congestive hea... |
ORPHA:3342 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Flexion contracture, Thin skin, Pulmonic stenosis, Aortic valve stenosis |
ORPHA:75496 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Palpitations, Hypotensi... |
ORPHA:100078 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Generalized edema, Facial edema, Myocarditis, Atelectasis, ... |
ORPHA:319213 |
Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141184 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse |
ORPHA:2233 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Recurrent upper res... |
OMIM:253220 |
Joubert Syndrome 15 |
|
Ambiguous genitalia, Micropenis |
OMIM:614464 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hydrops fetalis, Hepatic... |
OMIM:263520 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... |
OMIM:619167 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Pulmonic stenosis, Facial te... |
OMIM:620141 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:411709 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coarctat... |
OMIM:620210 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:612530 |
Aminoacylase 1 Deficiency |
|
Breech presentation, Bradycardia |
OMIM:609924 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent... |
OMIM:605275 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Mitral valve prolapse, Mitral... |
OMIM:606631 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... |
OMIM:618914 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... |
ORPHA:97214 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Cardiomyopathy, M... |
ORPHA:746 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Thin skin, Arrhythmia |
ORPHA:230839 |
Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Flexion contracture, Heart murmur... |
ORPHA:284979 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Pulmonic stenosis, Webbed neck |
ORPHA:1131 |
Atelis Syndrome 1 |
|
Atrial septal defect, Dry skin, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary artery dilatation, Recurrent respiratory infections, Cor triatriatum, Ventricular septa... |
OMIM:619534 |
Pagod Syndrome |
|
Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality of the... |
ORPHA:991 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:604091 |
Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr... |
OMIM:205400 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia |
OMIM:617450 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia, Polyhydramnios |
OMIM:615503 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse |
ORPHA:2183 |
Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Abnormal placenta morphology, ... |
ORPHA:79255 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Hepatic steatosis, Hepatomegaly, Abnormal atrioventricular conductio... |
ORPHA:280365 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia of... |
ORPHA:2970 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Respiratory tract infection, Left ventricular outfl... |
ORPHA:308552 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Breech presentation, Flexion contracture, Erythema, Retin... |
OMIM:614653 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Atelectasis, Patent ductus arteri... |
OMIM:269860 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi... |
ORPHA:251071 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Congestive heart failure, Recurrent bronchopulmon... |
OMIM:617303 |
Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... |
OMIM:300855 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Mitral regurgita... |
ORPHA:1101 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis |
OMIM:614300 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Atrial septal defect, Polyhydramnios, Oligohydramnios |
OMIM:615476 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... |
ORPHA:1596 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Macroglossia,... |
OMIM:615668 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Dextrocardia, Congenital contracture, Pulmonary hypoplasia, Camptodactyly,... |
OMIM:248700 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Pulmonic stenosis |
OMIM:617600 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan... |
ORPHA:26791 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia |
ORPHA:93328 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Stillbirth, Camptodactyly, Neonatal death, Pulmonary arterial hypertension |
OMIM:619751 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Peritonitis, Vasc... |
ORPHA:727 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension |
OMIM:616589 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure, Splenomegaly,... |
ORPHA:231226 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Congestive heart failure, Skeletal muscle hypertrophy,... |
ORPHA:528 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... |
OMIM:613327 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Patent du... |
OMIM:613610 |
Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... |
ORPHA:261519 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:95717 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Webbed neck |
ORPHA:2345 |
Cednik Syndrome |
|
Congestive heart failure, Stroke |
ORPHA:66631 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... |
ORPHA:508488 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia, Dry skin |
OMIM:610768 |
Fryns Syndrome |
|
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal cardiac septum morphol... |
ORPHA:2059 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Pulmonary arterial hypertension, Bradycardia, Decreased liver func... |
OMIM:616299 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth |
OMIM:600972 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Decreased fetal movement, Polyhydramn... |
OMIM:620351 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... |
OMIM:231100 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... |
OMIM:618282 |
Williams Syndrome |
|
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Abnormal cerebral vas... |
ORPHA:904 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Ambiguous genitalia, Male hypogonadi... |
ORPHA:261534 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Costello Syndrome |
|
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis... |
ORPHA:3071 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Pulmonary hypoplasia |
ORPHA:1486 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph... |
OMIM:235510 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Stillbirth, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex c... |
OMIM:236500 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Webbed neck, Atrial septal defect, ... |
OMIM:610733 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Mitral valve prolapse |
OMIM:616166 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Premature birth, Edema, Hydrops fetalis, Cutis laxa, Macroglossia,... |
ORPHA:79325 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Palpebral edema, Ventricular septal defect, Camptodactyly of finger, Pat... |
ORPHA:261337 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ... |
OMIM:239850 |
Carney Complex, Type 1 |
|
Cardiac myxoma, Congestive heart failure |
OMIM:160980 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
Emanuel Syndrome |
|
Thickened nuchal skin fold, Recurrent respiratory infections, Torticollis, Decreased fetal moveme... |
OMIM:609029 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Webbed neck |
OMIM:613706 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the lungs, Atrioventricular canal defect, EMG: myopathic abnormalities |
ORPHA:2549 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Babesiosis |
|
Hepatomegaly, Myocardial infarction, Congestive heart failure, Jaundice, Recurrent pharyngitis, S... |
ORPHA:108 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Farber Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, CNS foam cells, Intrahepatic cholestasis ... |
ORPHA:333 |
Genitopatellar Syndrome |
|
Hip contracture, Knee flexion contracture, Pulmonary hypoplasia, Atrial septal defect, Arthrogryp... |
ORPHA:85201 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... |
ORPHA:85446 |
Geleophysic Dysplasia 1 |
|
Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve stenosis, Mit... |
OMIM:231050 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ... |
OMIM:203800 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve |
OMIM:619825 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Raynau... |
ORPHA:3260 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial septal defect |
ORPHA:261295 |
Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis |
OMIM:614325 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... |
OMIM:619542 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Mass Syndrome |
|
Mitral valve prolapse |
OMIM:604308 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... |
ORPHA:99827 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri... |
OMIM:201810 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure,... |
ORPHA:231214 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Redundant skin, Vascular dilatation, Congestive heart fail... |
ORPHA:90349 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Nonimmune hydrops fetalis |
ORPHA:477774 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Lymphedema, Splenomegaly, Intracranial hemorrhage... |
ORPHA:3226 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect |
OMIM:147800 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Cap Myopathy |
|
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... |
ORPHA:171881 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Arterial dissection, Congestive heart failure, Recurrent pneumonia, Elbow ... |
ORPHA:1900 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure... |
ORPHA:33226 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Pulmonary hypoplasia, Atrial se... |
OMIM:616546 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor |
OMIM:609053 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Purpura, Acute pancreatitis, Elevated circulating aspartate ami... |
ORPHA:466677 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Redundant skin, Congestive heart failure, Pneumothorax, Cutis laxa, Righ... |
OMIM:617403 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... |
ORPHA:2637 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... |
OMIM:618027 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:608779 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis |
OMIM:212780 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Br... |
OMIM:214100 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Fetal pyelectasis, Limb hypertonia |
OMIM:301058 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Fetal distress, Abno... |
ORPHA:51608 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc... |
OMIM:617253 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... |
ORPHA:69735 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Mitral valve prolapse |
OMIM:173900 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Small thenar eminence, Pulmonary hypoplasia, Pulmonic stenosis, Camptod... |
OMIM:619148 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Pulmonic stenosis, Pulmonary artery atresia, Arthrogryposis multiplex ... |
OMIM:301056 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:250999 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo... |
OMIM:618494 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Mitr... |
OMIM:603387 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:1926 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... |
ORPHA:371428 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Dehydration, Hype... |
OMIM:263200 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Congestive heart failure,... |
ORPHA:505248 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus |
OMIM:614886 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, S... |
OMIM:615895 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Aplasia/... |
ORPHA:1860 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:1923 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Polyhydramnios, Coarctat... |
ORPHA:1199 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hepatitis... |
ORPHA:584 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Recurrent ... |
OMIM:309900 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse |
ORPHA:2396 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Congenital diaphragmatic he... |
OMIM:614080 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Premature... |
OMIM:616651 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Restrictive cardiomyopathy, Cholelithiasis |
ORPHA:822 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger, Atrial se... |
ORPHA:352490 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia |
OMIM:619909 |
Cardiospondylocarpofacial Syndrome |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:3238 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:1338 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... |
ORPHA:324 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure, Cerebral edema |
OMIM:619355 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, Pulmonary arterial hyperten... |
OMIM:614857 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve, Foot joint contracture |
OMIM:619641 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Jaundice,... |
ORPHA:20 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent foramen ovale |
OMIM:228520 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Flexion contracture, Right bundle branch bl... |
OMIM:614008 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, ma... |
ORPHA:347 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Ventricular septal defect, Splenomega... |
OMIM:614576 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Peri... |
OMIM:212065 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Redundant neck skin, Congestive heart failure, Aplasia/Hypoplas... |
ORPHA:3309 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:619769 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Generalized amyotrophy, Pulmonary hypoplasi... |
ORPHA:994 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, I... |
OMIM:618870 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pul... |
OMIM:616777 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect |
OMIM:619143 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Atelosteogenesis, Type Ii |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:256050 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Premature birth, Edema, Splenomegaly, Jaundice, Pallor, Bradycardia, H... |
ORPHA:90051 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Shoulder flexion contrac... |
OMIM:620369 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly |
OMIM:301039 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Abnormal pul... |
ORPHA:35687 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Aortic valve stenosis, Arrhythmia |
OMIM:616298 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:268249 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Aortic valve stenosis, Joint hemor... |
OMIM:193400 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Bilateral fetal pyelectasis, Polyhydramnios, Microvesicular hepati... |
OMIM:300868 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Oligohydramnios, Cutis laxa, Aor... |
OMIM:614437 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Polyhydramnios |
ORPHA:466926 |
Marfan Syndrome |
|
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... |
OMIM:154700 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis,... |
OMIM:619745 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehyd... |
ORPHA:79282 |
Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2470 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Decreased fetal movement, Multiple joint contractures, Ventricu... |
ORPHA:96170 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
OMIM:613673 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
ORPHA:1237 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Dry skin, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226313 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Arterial rupture, Dermal translucency |
OMIM:619115 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly |
OMIM:616145 |
Restrictive Dermopathy |
|
Decreased fetal movement, Multiple joint contractures, Premature birth, Dextrocardia, Camptodacty... |
ORPHA:1662 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Atrioventricular canal defect |
OMIM:613792 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block |
OMIM:614407 |
Ogden Syndrome |
|
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cutis laxa, Cardiogenic shock,... |
ORPHA:276432 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase |
OMIM:615160 |
Craniosynostosis 1 |
|
Aortic valve stenosis, Systolic heart murmur |
OMIM:123100 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia, Edema |
ORPHA:93296 |
Atransferrinemia |
|
Congestive heart failure, Abnormality of the liver |
OMIM:209300 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Camptodactyly... |
ORPHA:2848 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular sep... |
OMIM:620070 |
Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Dry skin |
ORPHA:1035 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Lymphedema, Mitral valve prolapse |
OMIM:247410 |
Thanatophoric Dysplasia, Type I |
|
Champagne cork sign, 1-minute APGAR score of 1, Decreased fetal movement, Polyhydramnios, Breech ... |
OMIM:187600 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:612289 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Congestive heart failure, Abnormal tendon morphology, Abnormal a... |
ORPHA:579 |
Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect, Webbed neck |
ORPHA:85194 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia |
OMIM:612651 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:2990 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:608320 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ... |
ORPHA:31824 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:618348 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung loba... |
ORPHA:1666 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Limb joint contracture, Prematur... |
OMIM:275210 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contrac... |
ORPHA:97297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... |
OMIM:253800 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Monosomy 13Q34 |
|
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Cardiac conduction abnormality,... |
ORPHA:699 |
Lissencephaly, X-Linked, 2 |
|
Ambiguous genitalia, Micropenis, Decreased testicular size |
OMIM:300215 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P... |
ORPHA:2519 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia |
OMIM:618929 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pulmonic stenosis |
OMIM:616977 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeated pneumothoraces, Atel... |
ORPHA:536467 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Camptodactyly |
OMIM:619980 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... |
OMIM:602782 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Congestive heart failure, Recurrent upper respiratory tra... |
ORPHA:391487 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ... |
ORPHA:98908 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Familial Thyroid Dyshormonogenesis |
|
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:95716 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Facial hypotonia, Premature birth, Polyhydramnios |
OMIM:611087 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... |
OMIM:615156 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:610947 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect |
OMIM:615879 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Hydrops fetalis, Cholelithiasis |
ORPHA:846 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Polyhydramnios |
OMIM:219730 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Hepatoblast... |
ORPHA:84064 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Edema, Polyhydramni... |
OMIM:265300 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Dermal translucency, Redundant neck skin, Redundant skin, Congestive heart ... |
ORPHA:90348 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:85166 |
Renal Hypodysplasia/Aplasia 1 |
|
Oligohydramnios, Hypertension, Pulmonary hypoplasia, Anhydramnios |
OMIM:191830 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Splenomegaly, Jaund... |
ORPHA:231222 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... |
ORPHA:536471 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cholestasis, Hypertension, R... |
ORPHA:52 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck |
OMIM:618950 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... |
ORPHA:2556 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Bradycardia, Limb hypertonia |
OMIM:614498 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Erythema, Stillbirth, Abnormal cardiac septum morphology, Pulmonary hypoplas... |
OMIM:308050 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... |
ORPHA:363444 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale, Oligohydramnios |
OMIM:616854 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Pat... |
OMIM:256520 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Lymphedema, Pericardial effusion, Sple... |
ORPHA:2136 |
Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vas... |
ORPHA:902 |
Evans Syndrome |
|
Epistaxis, Jaundice, Syncope, Pallor, Petechiae |
ORPHA:1959 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Mitral valve prolapse, Mitral reg... |
OMIM:601776 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Torticollis, Facial hypotonia, Polyhydramnios, Patent ductus arteriosus, Mi... |
OMIM:618371 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect |
OMIM:619135 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl... |
ORPHA:261311 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy, Stroke-like episode |
OMIM:619272 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Premature birth, Congestive hea... |
ORPHA:525731 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Polyhydramnios |
ORPHA:261272 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Camptodactyly of finger |
ORPHA:896 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... |
ORPHA:163956 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... |
ORPHA:774 |
Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Epistaxis, Patent ductus arteriosus, Recurrent upper respira... |
ORPHA:293939 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis |
OMIM:615802 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis |
OMIM:300867 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Xerostomia, Skin ulcer... |
ORPHA:220393 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f... |
ORPHA:558 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Excessive wrinkled skin, Arteriovenous malformation |
ORPHA:137608 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Abnormality of prenatal development or birth, Sinus bradycardia, Syncope, T... |
ORPHA:101016 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
Familial Multiple Lipomatosis |
|
Abnormal tricuspid valve morphology |
ORPHA:199276 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
Lymphatic Malformation 1 |
|
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... |
OMIM:153100 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... |
OMIM:300845 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Quadricuspid aortic valve, Muscle fiber splitting, Mitral valve prolapse |
OMIM:606408 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Su... |
OMIM:614114 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Telangiectasi... |
OMIM:137940 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis, Pulmonary hypoplasia, Hydrops fetalis |
OMIM:614091 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri... |
OMIM:301068 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... |
OMIM:617049 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema, Mitral valve prolapse |
ORPHA:1563 |
Pallister-Hall-Like Syndrome |
|
Pulmonary hypoplasia |
OMIM:241800 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
Martsolf Syndrome 1 |
|
Cardiomyopathy, Recurrent respiratory infections, Cardiac arrest, Congestive heart failure |
OMIM:212720 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Premature birth, Congestive heart failure, Coarcta... |
OMIM:105650 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... |
ORPHA:230851 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale |
OMIM:615539 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Recurrent upper ... |
ORPHA:508542 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Rhabdomyolysis, Erythema, Intra... |
ORPHA:449285 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
Pelger-Huet Anomaly |
|
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness |
OMIM:169400 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Hypotension, Oligohydramnios |
OMIM:267430 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Decreased fetal movement, Ventricular septal defect, Premature birth, Splenomegaly,... |
OMIM:270400 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp... |
OMIM:617506 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Squalene Synthase Deficiency |
|
Elbow flexion contracture, Bicuspid aortic valve, Knee flexion contracture |
OMIM:618156 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Oligohydramnios |
ORPHA:96201 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Polyhydramnios, Intrahepatic cholestasis, Ascites, Perimembranous ve... |
OMIM:606812 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Pallor |
ORPHA:90033 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate, Asplenia, Sp... |
OMIM:249000 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Congestive heart failure, Pallor, Hepatomegaly |
ORPHA:75564 |
Giant Cell Arteritis |
|
Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Aortic dissection, D... |
ORPHA:397 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia |
OMIM:613885 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Polyhydramnios, Aplasia of the left hemidia... |
OMIM:229850 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Greenberg Dysplasia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... |
OMIM:215140 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:958 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly... |
ORPHA:667 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Recurrent respiratory infections, Hepatomegaly, Flexion contracture, Atrial septal defect, Hypert... |
OMIM:619383 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension |
OMIM:602531 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Conotrunc... |
ORPHA:2306 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Thoracic aortic aneurysm, Patent ductus arteriosus, Peritonitis, Bidirectional shunt, Elevated pu... |
OMIM:619351 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu... |
ORPHA:97360 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy... |
OMIM:300963 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Cerebrofacioarticular Syndrome |
|
Lymphedema, Camptodactyly, Pulmonic stenosis, Abnormal heart morphology |
ORPHA:314679 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos... |
ORPHA:369891 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... |
ORPHA:457279 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... |
OMIM:614868 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Hydrops fetalis, Prolonged neonatal jaundice |
ORPHA:766 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... |
ORPHA:90795 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
46,Xx Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus |
ORPHA:243 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Polyhyd... |
OMIM:235255 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morph... |
ORPHA:124 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal tr... |
ORPHA:3472 |
Listeriosis |
|
Pericarditis, Liver abscess, Premature birth, Pneumonia, Myocarditis, Congestive heart failure, R... |
ORPHA:533 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Tarp Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Pulmonary hypoplasia |
ORPHA:2886 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias |
OMIM:616489 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly |
OMIM:614846 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Interphalangeal joint contracture o... |
ORPHA:96334 |
Sandhoff Disease, Infantile Form |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:309155 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Pulmonary hypoplasia,... |
OMIM:200600 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Coarctation ... |
OMIM:617602 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Abnormal heart valve morphology, Pul... |
ORPHA:90652 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... |
OMIM:618223 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... |
ORPHA:254346 |
Diaphanospondylodysostosis |
|
Increased nuchal translucency, Abnormal liver lobulation, Pulmonary hypoplasia, Absent fetal nasa... |
OMIM:608022 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Camptodactyly of finger, Coarctation of aorta, Atr... |
ORPHA:2008 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition... |
OMIM:201000 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Hepatomegaly, Hypertension, Coronary artery atherosclerosis, Pancreatitis |
ORPHA:79084 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Redundant skin, Pulmonary artery stenosis, Pa... |
ORPHA:96167 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t... |
ORPHA:171 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Degcags Syndrome |
|
Polyhydramnios, Pallor, Atrial septal defect, Diaphragmatic eventration, Patent foramen ovale, He... |
OMIM:619488 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Polyhydramnios |
ORPHA:96190 |
Takenouchi-Kosaki Syndrome |
|
Lymphedema, Patent ductus arteriosus, Webbed neck, Abnormal cardiac septum morphology, Pulmonic s... |
OMIM:616737 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Sirenomelia |
|
Ambiguous genitalia |
ORPHA:3169 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Pallor, Cholecystitis, Cholelith... |
OMIM:266200 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Edema, Respiratory tract infection, Myocarditis, Hypertension, Pleural empyema, Pallor... |
ORPHA:544482 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... |
ORPHA:141127 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Mitral stenosis, Mitral valve calcification, Cardiomegaly |
OMIM:231005 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... |
ORPHA:263455 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... |
ORPHA:2876 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta... |
OMIM:300514 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T... |
ORPHA:2131 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia |
OMIM:616920 |
Mogs-Cdg |
|
Hepatomegaly, Generalized edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial ... |
ORPHA:79330 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl... |
ORPHA:412 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Congestive heart failure, Rhabdomyolysis, Pneumothorax,... |
ORPHA:454836 |
Brittle Cornea Syndrome |
|
Camptodactyly, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
German Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
ORPHA:2077 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure, Stroke |
ORPHA:3077 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Splenomegaly, Aplasia/Hypoplasia of the lungs, Ascites, Oligohydramnios |
ORPHA:1046 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:617452 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Joint swelling, Blepharochalasi... |
ORPHA:287 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Decreased fetal movement, Recurrent respiratory infections, Secundum atrial septal defect, Hypert... |
OMIM:619758 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Tricuspi... |
OMIM:164280 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arterio... |
ORPHA:818 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Ventricular septal defect |
ORPHA:3078 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... |
OMIM:614609 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Penile Agenesis |
|
Ventricular septal defect, Fetal pyelectasis, Bilateral lung agenesis, Pulmonary hypoplasia, Atri... |
ORPHA:49 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic periportal necrosis, Hepati... |
OMIM:231680 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... |
OMIM:249420 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Prominent superficial veins, Cor triatriatum, Hepatomegaly, Sec... |
OMIM:612541 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Facial hypotonia, Ebstein anomaly of the tricuspid valve, Distal ar... |
ORPHA:506358 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca... |
OMIM:619573 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... |
OMIM:612582 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Pulmonary hypoplasia |
ORPHA:3027 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Myositis, Juxtaductal coarctation of the aorta, Dextrocardia, R... |
ORPHA:3310 |
Noonan Syndrome 13 |
|
Lymphedema, Mitral valve prolapse, Mitral regurgitation, Atrial septal defect, Dry skin |
OMIM:619087 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Thickened nuchal skin fold, Patent ductus arteriosus, Ventricular septal de... |
OMIM:220500 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... |
ORPHA:115 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Diaphragmatic eventration |
OMIM:617808 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hype... |
ORPHA:94093 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Polyhydramnios |
ORPHA:1790 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Coffin-Siris Syndrome 3 |
|
Macroglossia, Central diaphragmatic hernia, Abnormal heart morphology |
OMIM:614608 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Webbed neck, ... |
OMIM:607721 |
Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:2409 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation |
ORPHA:53721 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
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 |
White Forelock With Malformations |
|
Atrial septal defect |
ORPHA:2475 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, De... |
OMIM:251290 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice, Pallor |
OMIM:615631 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Congestive he... |
OMIM:252500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Polyhydramnios, Patent ductus arteriosus, Joint contracture, Atrial septal defect, Recurrent lowe... |
OMIM:618005 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Single umbilical artery, Pulmonary hypoplasia |
OMIM:224410 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Joint contracture of the hand, Left superior vena cava draining to coronary... |
OMIM:611961 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck |
OMIM:270450 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Bradycardia |
OMIM:220120 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Premature birth, Congestive heart failure, Hypertension, Arteriosclero... |
ORPHA:1830 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
Marburg Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Pancreatitis, Jaundice, Hypovole... |
ORPHA:99826 |
3-Methylglutaconic Aciduria, Type Viib |
|
Decreased fetal movement, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Flexion ... |
OMIM:616271 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Redundant skin, Carotid artery stenosis, Mitral valve prolapse, Aort... |
OMIM:618000 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Contracture of the proximal int... |
OMIM:601559 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal translucency, Abnormal l... |
ORPHA:1052 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Vici Syndrome |
|
Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath... |
OMIM:242840 |
Tangier Disease |
|
Accelerated atherosclerosis, Carotid artery stenosis, Dry skin, Hepatosplenomegaly, Facial dipleg... |
ORPHA:31150 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... |
ORPHA:506 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Campomelia, Cumming Type |
|
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Oligohy... |
ORPHA:1318 |
Tarp Syndrome |
|
Subdural hemorrhage, Premature rupture of membranes, Neonatal death, Hepatic failure, Atrial sept... |
OMIM:311900 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Prominent superficial veins, Hepatic steatosis, Telangiectasia of the sk... |
ORPHA:79474 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217085 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Vascular dilatation |
ORPHA:221098 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Myopathy, Distal arthrogryposis, Pulmonary hypoplasia, Diaphragmatic... |
OMIM:618975 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Limb joint contracture, Ventricular septal defect |
ORPHA:505237 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... |
OMIM:244300 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Camptodactyly of finger |
ORPHA:776 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:617159 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
ORPHA:86822 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:1915 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... |
ORPHA:682 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia |
OMIM:619314 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Lim... |
OMIM:620327 |
Vacterl/Vater Association |
|
Premature birth, Congenital diaphragmatic hernia, Polyhydramnios, Abnormality of the pancreas, Ab... |
ORPHA:887 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... |
ORPHA:209905 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios |
OMIM:600373 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... |
OMIM:608800 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... |
OMIM:614294 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness ... |
OMIM:265000 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217093 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale |
OMIM:618821 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Vasculitis, Arterial stenosis, Pedal edema, Pulmonary artery aneurysm, Pulmon... |
ORPHA:228116 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Decreased fetal movement, Premature birth, Elbow contract... |
OMIM:208150 |
Myopathy With Extrapyramidal Signs |
|
Calf muscle hypertrophy, Ventricular septal defect |
OMIM:615673 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... |
ORPHA:56 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Flexion contracture, Bicuspid aortic valve |
OMIM:619720 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m... |
ORPHA:261197 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosple... |
OMIM:256540 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... |
OMIM:300998 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Joint contracture of the hand, Camptodactyl... |
OMIM:280000 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Patent foramen ova... |
OMIM:620113 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Thin skin |
ORPHA:217346 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... |
OMIM:610443 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... |
OMIM:182250 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Blomstrand Lethal Chondrodysplasia |
|
Premature birth, Polyhydramnios, Hydrops fetalis, Coarctation of aorta, Pulmonary hypoplasia |
ORPHA:50945 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Stillbirth, Hydrops fetalis, Edema |
OMIM:200610 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Decreased fetal movement, Polyhydramnios, Flexion contracture, Lack of s... |
ORPHA:2671 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Pulmonary hypoplasia, Polyhydramnios |
OMIM:151210 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... |
ORPHA:1780 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Abnormal lung morphology, Apla... |
ORPHA:646 |
Aarskog-Scott Syndrome |
|
Congestive heart failure, Camptodactyly of finger |
ORPHA:915 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Congenital foot contractures, Limb hypertonia |
ORPHA:565624 |
Bartsocas-Papas Syndrome |
|
Ambiguous genitalia, Hypoplastic male external genitalia |
ORPHA:1234 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature birth, Respiratory infections in early life, Contractures of the large joints, Abnormal... |
ORPHA:96179 |
Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension |
ORPHA:100079 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1908 |
Shashi-Pena Syndrome |
|
Dilation of Virchow-Robin spaces, Patent ductus arteriosus, Mild fetal ventriculomegaly, Atrial s... |
OMIM:617190 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Prominent superficial veins, Acute pancreatitis, Hypertension, Coronary artery athe... |
OMIM:608600 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Bilobed right lung, Cystic liver disease, Hepatic fibrosis, Pulmonary hypopla... |
OMIM:612284 |
Distal Deletion 13Q |
|
Ambiguous genitalia |
ORPHA:1590 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... |
OMIM:616449 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... |
ORPHA:79345 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... |
ORPHA:444077 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... |
OMIM:178110 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Decreased muscle mass, Decreased fetal movement, Ventricular ... |
ORPHA:2962 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis, Webbed neck |
OMIM:601321 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Polyhydramnios, Pancreatic lymphang... |
ORPHA:1655 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Embryonal rhabdomyosarcoma, Pulmonic stenosis, Oligohydramnios |
OMIM:257300 |
Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Congenital diaphragmatic hernia |
OMIM:619648 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Polyhydramnios, Placental abruption, Patent ductus arteriosus, Single umbilical artery... |
OMIM:603467 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Lymphedema, Pulmonic stenosis, Webbed neck, Atrial septal defect... |
ORPHA:1340 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Premature birth, Facial wrinkling, Coarctation of aorta, Mitral... |
ORPHA:93932 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Splenic rupture, Left ventricular hypertrophy, Internal hemorrhage, Right ventricula... |
ORPHA:335 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, Hematochezia, Congen... |
OMIM:243150 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Macroglossia, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Palpebral edema, Patent ductus arteriosus, Hepatosplenomegaly, Macroglossia, Camptodactyly, Atria... |
ORPHA:397709 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage, Flexion contracture, ... |
ORPHA:666 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V... |
ORPHA:90307 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Edema, Pneumothorax, Dilated cardiomyopathy, Dehydration, Bradycardia |
ORPHA:79404 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... |
OMIM:200995 |
Genitopalatocardiac Syndrome |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:2075 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Decreased fetal movement, Fet... |
ORPHA:86309 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, Abnormal tricuspid valve morphology, A... |
ORPHA:192 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Patent ductus a... |
OMIM:617137 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Dehydration, Hypertension, Pallor, Hypotension |
ORPHA:134 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ... |
ORPHA:261330 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital diaphragmatic hernia |
ORPHA:2063 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, He... |
ORPHA:14 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Toriello-Carey Syndrome |
|
Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis, ... |
ORPHA:3338 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Congenital diaphragmatic hernia, Pulmonary ar... |
OMIM:208050 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten... |
ORPHA:85450 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:614816 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Macr... |
OMIM:557000 |
Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Ventricular septal defect |
OMIM:617164 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Heart murmur |
ORPHA:2728 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Torticollis, Skeletal muscle atrophy, Patent ductus arteriosus ... |
ORPHA:251061 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... |
OMIM:613309 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Pulmonic stenosis, Camptodactyly |
OMIM:618343 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Recurrent respiratory infections, Hip contracture, Abnormal atrioventricula... |
ORPHA:576 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Camptodactyly |
ORPHA:459061 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis |
ORPHA:348 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Pneumothorax, Mitral ... |
OMIM:617402 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Congenital contr... |
ORPHA:261279 |
Triploidy |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:3376 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Camptodactyly |
OMIM:618529 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia |
ORPHA:1300 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pancreatic cysts, Vascular dilatation, Pallor, Intrahepatic bile duct dilatation |
OMIM:616307 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the lungs, Multiple joint contractures, Camptodactyly of finger, Abnormal p... |
ORPHA:2570 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Dry skin |
ORPHA:90674 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis |
OMIM:614749 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... |
OMIM:620024 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno... |
ORPHA:488632 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr... |
ORPHA:3047 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Wrist flexion contracture, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect |
OMIM:617360 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Increased nuchal translucency, Fetal distress |
OMIM:620183 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Abnormal lung lobation, Stil... |
OMIM:617667 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect, Contracture of the proximal interphalangeal ... |
OMIM:618109 |
15Q24 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Abnormal heart morphology |
ORPHA:94065 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Ca... |
OMIM:256040 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Arrhythmia, Patent foramen ovale |
OMIM:619184 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Bradycardia, Edema, Prolonged neonatal jaundice |
ORPHA:90673 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections |
OMIM:620194 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Redundant skin, Congestive heart failure, Breech presentation, Palmoplantar cutis laxa, Neonatal ... |
OMIM:616482 |
Sotos Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Muscular ventricular septal defect, Patent d... |
OMIM:117550 |
Intellectual Disability-Strabismus Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arteriosus, Achilles tendon contra... |
ORPHA:363528 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallor |
OMIM:600462 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... |
OMIM:611962 |
Distal Deletion 3P |
|
Atrioventricular canal defect |
ORPHA:1620 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Skeletal muscle atrophy, Hepatic... |
ORPHA:17 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:1190 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Ventricular septal defect, Telangiectasia of the skin, Congenital diaphrag... |
ORPHA:2092 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Ven... |
OMIM:614866 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:309520 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Atrial septal defect, Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve |
OMIM:300707 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Facial hypotonia |
OMIM:614526 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Contracture of the distal interphalangeal joint of the fingers... |
ORPHA:83617 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Vasculitis, Hepatitis, Hydrops fetalis, Pulmonary fibr... |
ORPHA:3261 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Congestive heart failure, Jaundice, Splenomegaly, Myopathy, Cholecystiti... |
OMIM:615512 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art... |
ORPHA:261494 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture |
OMIM:619708 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve |
OMIM:130720 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Aortic ... |
OMIM:615582 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Mitral regurgitation, Chylothorax, Webbed neck... |
OMIM:613563 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect, Breech presentation, Polyhydramnios, Edema |
ORPHA:2347 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myositis, Pneumonia, Edema, Respiratory tract infection, Myocarditis, Periton... |
ORPHA:36234 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Abnormality of the... |
OMIM:222470 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Pulmonary hypoplasia, Oligohydramnios |
OMIM:251230 |
Osteogenesis Imperfecta, Type I |
|
Thin skin, Mitral valve prolapse |
OMIM:166200 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Edema, Polyhydramnios, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Re... |
OMIM:607143 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... |
OMIM:619991 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu... |
ORPHA:464738 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... |
ORPHA:508498 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Penoscrotal hypospadias, Hypospadias, Female external genitalia in individual with 46,XY karyotyp... |
ORPHA:90791 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect |
ORPHA:251038 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3035 |
Costello Syndrome |
|
Redundant neck skin, Ventricular septal defect, Premature birth, Rhabdomyosarcoma, Polyhydramnios... |
OMIM:218040 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracrani... |
ORPHA:163979 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... |
OMIM:600268 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, Internal hemorrhage, Peripheral arteriovenous fistula, Premature birth, Varicose ... |
ORPHA:286 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... |
ORPHA:85438 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Recurrent respiratory infections, Flexion contracture, Sinus bradycardia, Congenital contracture,... |
OMIM:618397 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis |
OMIM:618265 |
Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Premature bi... |
OMIM:619418 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve |
ORPHA:96169 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... |
OMIM:118450 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Polyhydramnios, Flexion contracture, Cutis laxa, Camptodactyly, Atrial... |
OMIM:605039 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Hypoplast... |
OMIM:300166 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:380 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Anomalous pulmonary venous return |
ORPHA:2311 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Al Kaissi Syndrome |
|
Atrial septal defect, Torticollis |
OMIM:617694 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:261236 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Hepatomegaly, Patent ductus arteriosus, Dextrocardia |
OMIM:277380 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Camptodactyly of finger |
ORPHA:2635 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:115150 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachyca... |
OMIM:181270 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy |
OMIM:619121 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent ductus arteriosus, Increased nuchal translucency, Proximal muscle weakness in lower limbs,... |
ORPHA:280633 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Macroglossia, Oli... |
ORPHA:96191 |
Schneckenbecken Dysplasia |
|
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:222448 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... |
OMIM:175050 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Spondyloocular Syndrome |
|
Lymphedema, Mitral valve prolapse, Webbed neck, Atrial septal defect, Dysplastic aortic valve |
OMIM:605822 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
OMIM:616368 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Premature birth, Redundant skin,... |
ORPHA:79324 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Ascending tubular aorta aneury... |
OMIM:219100 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morphology, Hematochezia, M... |
ORPHA:79076 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... |
OMIM:607823 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h... |
ORPHA:444072 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Decreased fetal movement, Patent ductus arteriosus, Rhabdomyolysis, Dilated cardiom... |
OMIM:610505 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Refractory Anemia With Excess Blasts |
|
Palpitations, Anemic pallor, Retinal hemorrhage, Pedal edema |
ORPHA:86839 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Pallor, Hypotension |
ORPHA:98849 |
Raine Syndrome |
|
Neonatal death, Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:259775 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Abnormal heart morphology |
OMIM:600901 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Chylothora... |
OMIM:163950 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia |
OMIM:616300 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he... |
ORPHA:2745 |
Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse |
OMIM:617107 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Camptodactyly |
OMIM:272950 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Redundant skin, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral v... |
ORPHA:536532 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pallor, Skeletal muscle atrophy |
ORPHA:90045 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septum morphology, Aorti... |
ORPHA:96147 |
Atelosteogenesis Type Ii |
|
Elbow flexion contracture, Pulmonary hypoplasia, Camptodactyly |
ORPHA:56304 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... |
OMIM:616894 |
Achondroplasia |
|
Premature rupture of membranes, Pulmonary hypoplasia, Polyhydramnios |
OMIM:100800 |
Acrorenal-Mandibular Syndrome |
|
Elbow flexion contracture, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:200980 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Pallor, Recurrent upper and lowe... |
ORPHA:331206 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:36 |
Genitopatellar Syndrome |
|
Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Pulmonary h... |
OMIM:606170 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Abnormal heart morphology |
OMIM:227650 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Prolonged neonatal jaundice |
OMIM:224120 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Xp22.13P22.2 Duplication Syndrome |
|
Recurrent upper respiratory tract infections, Congenital diaphragmatic hernia |
ORPHA:284180 |
Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:176690 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch,... |
OMIM:300712 |
Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Abnormal heart morphology, Macroglossia, Pulmonary hypoplasia, Camptodactyly... |
ORPHA:798 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:565 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... |
OMIM:600142 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse |
ORPHA:251066 |
C Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cutis laxa |
OMIM:211750 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Aceruloplasminemia |
|
Torticollis, Congestive heart failure, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis,... |
ORPHA:48818 |
Keutel Syndrome |
|
Hypertension, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis |
ORPHA:529962 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal lung lobation, Abnormal heart morphology, Atrial septal defect... |
ORPHA:369837 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:166300 |
Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the liver |
ORPHA:474 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Recurrent upper respiratory ... |
ORPHA:1465 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... |
ORPHA:3138 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ambiguous genitalia, Cryptorchidism, Micropenis |
OMIM:614969 |
Zellweger Syndrome |
|
Thickened nuchal skin fold, Hepatomegaly, Ventricular septal defect, Premature birth, Jaundice, H... |
ORPHA:912 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Polyhydramnios, Congestive heart failure, Microvesicular hepatic s... |
OMIM:617156 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly... |
ORPHA:567 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Patent ductus arteriosus, Knee flexion contracture, Atrial septal defect, Annu... |
OMIM:618162 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:273395 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Premature birth, Polyhydramnios, Hydrops fetalis,... |
OMIM:216340 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Nuchal cord, Ventricular septal... |
OMIM:619475 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Ventricular septal defect, Anemic pallor |
OMIM:227645 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema |
OMIM:606232 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Pallor, Elevated hepatic transaminase |
ORPHA:98870 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Hematochezia, Caesarian section, Per... |
OMIM:619575 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... |
OMIM:613355 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Patent foramen ovale |
OMIM:619179 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect, Flexion contracture, Congenital diaphragmatic hernia |
OMIM:618651 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect, Premature birth, Abnormality of prenatal development or birth, Ventous... |
OMIM:619229 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal... |
ORPHA:1507 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ... |
OMIM:274000 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Anemic pallor, Annular pancreas, Abnormal heart morphology |
OMIM:227646 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction |
OMIM:615812 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct... |
OMIM:605130 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Webbed neck |
ORPHA:1393 |
Craniosynostosis, Herrmann-Opitz Type |
|
Aplasia/Hypoplasia of the lungs, Oligohydramnios |
ORPHA:2145 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Paten... |
ORPHA:464311 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Hydrops fetalis, Prolonged neonatal jaundice, Cholelithiasis |
ORPHA:288 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Limb hypertonia |
OMIM:609460 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Scapular winging, Patent ductus arteriosus |
OMIM:609625 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Patent ductus arteriosus, M... |
OMIM:620005 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Ambiguous genitalia, Clitoral hypertrophy |
ORPHA:543470 |
Kleefstra Syndrome 1 |
|
Macroglossia, Recurrent respiratory infections, Conotruncal defect |
OMIM:610253 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus |
OMIM:300968 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... |
ORPHA:353281 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Hepatomegaly, Abnormality of the spleen, Abnormal lung lobation,... |
ORPHA:2538 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
Campomelic Dysplasia |
|
Sex reversal, Hypospadias |
OMIM:114290 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Edema |
ORPHA:2505 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect, Decreased fetal movement |
OMIM:614207 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios |
OMIM:617088 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial septal defect... |
OMIM:616364 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Ambiguous genitalia, Oligozoospermia, Female pseudohermaphroditism |
ORPHA:786 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Decreased fetal movement, Congestive heart failure, Recurrent pneumo... |
OMIM:225400 |
Multiple Endocrine Neoplasia Type 2 |
|
Proximal amyotrophy, Neoplasm of the lung, Neoplasm of the liver, Palpitations, Pallor, Hypertens... |
ORPHA:653 |
Distal Deletion 10Q |
|
Scapular winging, Premature birth, Patent ductus arteriosus, Facial diplegia, Atrial septal defect |
ORPHA:96148 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ... |
OMIM:220111 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... |
OMIM:257920 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Abnormal heart valve morphology, Cholelithiasis, Hypersplenism, Splenomegaly, Abnor... |
ORPHA:77293 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... |
ORPHA:1519 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Unilateral facial palsy, Atrioventricular canal defect, Torticollis |
OMIM:619480 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Br... |
OMIM:617140 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency |
OMIM:260450 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Congenital malformation of the left heart, Skeletal muscle hypertrophy, ... |
ORPHA:3455 |
Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Polyhydramnios |
OMIM:618846 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformati... |
ORPHA:1556 |
Familial Thrombocytosis |
|
Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Syncope, Cerebral ischemia... |
ORPHA:71493 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemor... |
ORPHA:536545 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia |
ORPHA:93947 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ... |
OMIM:619503 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect, Dry skin |
ORPHA:769 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Fraser Syndrome 1 |
|
Pulmonary hypoplasia, Abnormal heart morphology |
OMIM:219000 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Patent ductus arteriosus, Bradycardia, Jaundice |
OMIM:617248 |
Renal Agenesis, Bilateral |
|
Fetal polyuria, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:1848 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios |
ORPHA:436252 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Peripheral arterial stenosis, ... |
ORPHA:90041 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Pallor |
ORPHA:35858 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Thin skin |
OMIM:244450 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor |
OMIM:617675 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Erythema, Retinal ... |
ORPHA:464 |
Holoprosencephaly |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... |
ORPHA:2162 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... |
OMIM:607323 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Patent ductus arteriosus, Achilles tendon contracture, Knee fle... |
OMIM:618076 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Skin ulcer, Chylothorax, Scaling skin, Atrial septal defect, Pleural effusion,... |
ORPHA:2526 |
Axial Mesodermal Dysplasia Spectrum |
|
Premature birth, Congenital diaphragmatic hernia, Abnormality of the spleen, Aplasia/Hypoplasia o... |
ORPHA:1834 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Heart murmur, Single umbilical artery, Patent foramen ovale, Oligohydramnios |
OMIM:618653 |
Microform Holoprosencephaly |
|
Ambiguous genitalia, Hypoplasia of penis |
ORPHA:280200 |
Ctcf-Related Neurodevelopmental Disorder |
|
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Joint contracture of the 5t... |
ORPHA:363611 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... |
OMIM:139210 |
Limb Body Wall Complex |
|
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Amniotic constrictio... |
ORPHA:2369 |
Yellow Fever |
|
Shock, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Suprave... |
ORPHA:99829 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, Abnormality... |
ORPHA:847 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Webbed neck,... |
ORPHA:3380 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Congestive heart failure, Pedal edema |
ORPHA:247353 |
Vacterl With Hydrocephalus |
|
Single umbilical artery, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:3412 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Patent ductus arteriosus, Abn... |
ORPHA:284984 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Decreased fetal movement, Ventricular septal defect, Premature birth, Polyhydramnio... |
OMIM:618268 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... |
ORPHA:373 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Camptodactyly of finger |
OMIM:619951 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Flexion contracture, Atrial septal d... |
OMIM:147791 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Sweeney-Cox Syndrome |
|
Asplenia, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios |
OMIM:617746 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:602535 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Hepatomegaly, Premature birth, Myocarditis, Congestive heart failure,... |
ORPHA:3385 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Webbed neck, C... |
OMIM:300373 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Xerostomia |
ORPHA:1051 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Dry skin, Camptodactyly |
ORPHA:261323 |
Peters Plus Syndrome |
|
Polyhydramnios, Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal cardiac septum morph... |
ORPHA:709 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Breech presentation, Mu... |
OMIM:210710 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Decreased fetal movement, Abnormal heart valve morphology, Cong... |
ORPHA:280 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Flexion contracture, Generalized limb muscle atrophy |
OMIM:618891 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... |
OMIM:312870 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation... |
OMIM:618454 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... |
ORPHA:464306 |
Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Arthrogryposis multiplex congenita, Thickened nuchal skin fold, Hepatomegaly |
OMIM:620076 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia |
ORPHA:2839 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am... |
OMIM:616268 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... |
ORPHA:2461 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Flexion contracture, Camptodactyly |
OMIM:207410 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Limb hypertonia |
ORPHA:457351 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Male pseudohermaphroditism |
ORPHA:140 |
Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Mitral stenosis, Splen... |
ORPHA:955 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Decreased fetal movement, Flexion contracture, Xerostomia, Atri... |
ORPHA:398069 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Dry skin, Hypotension |
ORPHA:428 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Mitral regurgitation, Patent foramen ovale |
OMIM:225250 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept... |
ORPHA:96121 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydr... |
OMIM:601803 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Patent ductus arteriosus, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:1112 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Coronary artery atherosclerosis, Ventr... |
ORPHA:36913 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Polyhydramnios, Respiratory tract infection, Patent ... |
OMIM:180849 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:363958 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly |
ORPHA:300298 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Single umbilical artery, Pulmonary hypoplasia, Oligohydramnios |
OMIM:271520 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226307 |
Schisis Association |
|
Congenital diaphragmatic hernia |
ORPHA:63862 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Facial palsy, Polyhydramnios, Echogenic fetal bowel, Prolonged ... |
OMIM:620186 |
Fanconi Anemia |
|
Patent ductus arteriosus, Abnormality of the liver, Abnormal cardiac septum morphology, Abnormal ... |
ORPHA:84 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia |
ORPHA:563609 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Precocious atherosclerosis, Bone-m... |
ORPHA:275761 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:251014 |
Hyperoxaluria, Primary, Type I |
|
Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventricular block, Deh... |
OMIM:259900 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, ... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, ... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Aortic arch aneurysm, Elevated hepatic transaminase, Arterial dissection, ... |
ORPHA:881 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, W... |
OMIM:117650 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Preductal coarctatio... |
OMIM:146510 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... |
ORPHA:353277 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... |
OMIM:271640 |
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 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... |
OMIM:194050 |
Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Common atrium |
OMIM:225500 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:438213 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Coarctatio... |
OMIM:164210 |
Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation of the ventricul... |
ORPHA:459070 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Secundum atrial septal defect |
OMIM:620072 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Camptodactyly of finger, Bilateral lung agenesis, Pulmonary hyp... |
ORPHA:2753 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero... |
ORPHA:209902 |
Neurocardiofaciodigital Syndrome |
|
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:619869 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
Plague |
|
Hepatomegaly, Tachycardia, Edema, Hematemesis, Splenomegaly, Endocarditis, Skin ulcer, Acute infe... |
ORPHA:707 |
Carney Complex |
|
Neoplasm of the pancreas, Cardiac myxoma, Congestive heart failure, Hypertension, Dilatation of t... |
ORPHA:1359 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Dry skin, Bradycardia |
OMIM:218700 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Distal arthrogryposis, Patent foramen ovale, Aortopulmonary collateral arteries |
OMIM:617557 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased fetal movement, Polyhydramnios, Patent ductus arteriosus, Recurrent sinusitis, Atrial s... |
OMIM:213980 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia, Abnormal heart morphology |
ORPHA:468678 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Premature birth, Annular pancreas, C... |
ORPHA:2308 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic... |
OMIM:301022 |
Desmosterolosis |
|
Ambiguous genitalia |
ORPHA:35107 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Facial palsy, Heart murmur, Mitral valve prolapse, Abnormal hea... |
OMIM:615873 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Bilateral superior vena ... |
OMIM:618460 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Abnormality of prenatal development or bi... |
ORPHA:33364 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Hypertension, Coronary artery atherosclerosis, Myocardial infarction |
OMIM:618620 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios |
OMIM:608670 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Premature coronary artery atherosclerosis |
ORPHA:140905 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Patent ductus arteriosus, Abnormal heart morphology, Patent for... |
ORPHA:177907 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Pancreatitis, Elevated hepatic transaminase |
OMIM:619471 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger |
OMIM:164200 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... |
ORPHA:95699 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the lungs, Single umbilical artery, Abnormal mesentery morphology, Oligohyd... |
ORPHA:2167 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Facial hypotonia, Webbed neck, Small thenar eminence, Camptodactyly, A... |
OMIM:613458 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor, Edema |
ORPHA:329971 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia, Redundant skin |
OMIM:250220 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Ambiguous genitalia, Micropenis |
OMIM:613091 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... |
OMIM:235730 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:2166 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:2710 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contr... |
ORPHA:90324 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... |
OMIM:619127 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia, Edema, Pedal edema |
OMIM:236700 |
Orofaciodigital Syndrome Type 2 |
|
Atrioventricular canal defect |
ORPHA:2751 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Retinal hemorrhage |
OMIM:308300 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3429 |
Distal Deletion 6P |
|
Atrial septal defect |
ORPHA:96125 |
Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Abnormal lung morphology, Tendon xanthomatosis, Abnormal atrial septu... |
ORPHA:909 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Mitral regurgitation, Patent foramen ovale |
ORPHA:457395 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... |
ORPHA:268261 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect |
ORPHA:1439 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Perianal erythema, Recurrent upper respiratory tract infections, Hypertension, Hydromyelia, Neona... |
OMIM:308205 |
Diaphragmatic Hernia 2 |
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Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Bartsocas-Papas Syndrome 1 |
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Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... |
OMIM:263650 |
17Q11 Microdeletion Syndrome |
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Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hypertension, Abnormal heart morpholog... |
ORPHA:97685 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Generalized edema, Ventricular septal defect, Elevated circulating aspartate aminot... |
OMIM:243800 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Patent ductus arteriosus... |
ORPHA:500150 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Congenital diaphragmatic hernia |
OMIM:606164 |
Carpenter Syndrome 2 |
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Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee fle... |
OMIM:614976 |
Cornelia De Lange Syndrome 1 |
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Elbow flexion contracture, Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia |
OMIM:122470 |
Oeis Complex |
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Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Phocomelia, Schinzel Type |
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Hydrops fetalis |
ORPHA:2879 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Atrial septal defect, Arthrogryposis multiplex congenita, Fetal pyelectasis, Dilation of Virchow-... |
OMIM:619512 |
Doors Syndrome |
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Double outlet right ventricle, Aspiration pneumonia |
ORPHA:79500 |
Non-Syndromic Posterior Hypospadias |
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Congenital diaphragmatic hernia |
ORPHA:95706 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Vascular dilatation, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:617641 |
Joubert Syndrome 21 |
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Splenomegaly, Pulmonary hypoplasia |
OMIM:615636 |
2Q37 Microdeletion Syndrome |
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Abnormal aortic morphology, Congenital diaphragmatic hernia |
ORPHA:1001 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect |
OMIM:619727 |
Pancreatic And Cerebellar Agenesis |
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Secundum atrial septal defect, Pancreatic hypoplasia, Flexion contracture, Pancreatic aplasia |
OMIM:609069 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale |
OMIM:616975 |
Acrofacial Dysostosis 1, Nager Type |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati... |
OMIM:154400 |
Neurooculorenal Syndrome |
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Dextrocardia, Anhydramnios, Mitral valve prolapse, Tetralogy of Fallot with pulmonary stenosis, P... |
OMIM:620305 |
Fraser Syndrome 2 |
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Ambiguous genitalia |
OMIM:617666 |
Congenital Disorder Of Glycosylation, Type Iim |
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Atrial septal defect, Hypertension, Oligohydramnios |
OMIM:300896 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Atrial septal defect, Progressive flexion contractures |
ORPHA:522077 |
Oculocerebrocutaneous Syndrome |
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Congenital diaphragmatic hernia |
ORPHA:1647 |
Orofaciodigital Syndrome Type 14 |
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Patent ductus arteriosus, Ventricular septal defect, Webbed neck |
ORPHA:434179 |
Aregenerative Anemia |
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Pallor |
ORPHA:101096 |
Apolipoprotein A-I Deficiency |
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Atherosclerosis, Angina pectoris, Premature coronary artery atherosclerosis |
ORPHA:425 |
Aymé-Gripp Syndrome |
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Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Ca... |
ORPHA:1272 |
Hajdu-Cheney Syndrome |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:102500 |
Renpenning Syndrome 1 |
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Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep... |
OMIM:309500 |
Ablepharon Macrostomia Syndrome |
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Ambiguous genitalia, Abnormality of female external genitalia, Hypoplasia of penis |
ORPHA:920 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios |
OMIM:300990 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
Kabuki Syndrome |
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Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:2322 |
Early Infantile Epileptic Encephalopathy |
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Ventricular septal defect |
ORPHA:1934 |
Tetraamelia-Multiple Malformations Syndrome |
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Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Polyhydramnios |
ORPHA:3301 |
Ring Chromosome 13 Syndrome |
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Bifid scrotum, Hypospadias, Ambiguous genitalia, Micropenis, Urogenital sinus anomaly |
ORPHA:96176 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
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Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Congenital hepatic fibrosis, Pulmonary hypoplasia, Hydrops fetalis |
ORPHA:93271 |
Hallermann-Streiff Syndrome |
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Congestive heart failure, Abdominal situs inversus |
ORPHA:2108 |
Goodpasture Syndrome |
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Nodular pattern on pulmonary HRCT, Pallor, Hemosiderin-laden macrophages in bronchoalveolar fluid... |
OMIM:233450 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Atrial septal defect, Torticollis, Total anomalous pulmonary venous return, Knee flexion contracture |
OMIM:609945 |
Peters-Plus Syndrome |
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Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Pulmonic st... |
OMIM:261540 |
Distal Deletion 12Q |
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Patent ductus arteriosus, Elbow flexion contracture, Biliary atresia, Congenital hypertrophy of l... |
ORPHA:96149 |
Digeorge Syndrome |
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Hepatic steatosis, Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Recurrent pn... |
OMIM:188400 |
Hepatoerythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve |
OMIM:218330 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta... |
ORPHA:672 |
Alström Syndrome |
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Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, M... |
ORPHA:64 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Decreased fetal movement, Aplasia of the right hemidiaphragm, Epistaxis, Polyhydramnios, Patent d... |
OMIM:619841 |
Monosomy 9P |
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Ambiguous genitalia, Cryptorchidism, Hypospadias |
ORPHA:261112 |
Desmosterolosis |
|
Ambiguous genitalia, female, Ambiguous genitalia, male |
OMIM:602398 |
Ataxia-Telangiectasia-Like Disorder 2 |
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Joint contracture, Congenital diaphragmatic hernia |
OMIM:615919 |
Fraser Syndrome |
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Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... |
ORPHA:2052 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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1-minute APGAR score of 1, Cyst of the ductus choledochus, Patent ductus arteriosus, 5-minute APG... |
ORPHA:480880 |
Poland Syndrome |
|
Atrial septal defect, Aplasia of the pectoralis major muscle, Dextrocardia, Congenital diaphragma... |
ORPHA:2911 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia, Coarctation of a... |
OMIM:147920 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Lower-limb joint contracture, Ventricular septal defect |
ORPHA:513456 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... |
OMIM:192350 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Sotos Syndrome |
|
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Small cell lung carcinoma,... |
ORPHA:821 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Atrial septal defect, Macroglossia, Splenopancreatic fusion, Hepatoblastoma |
OMIM:269150 |
Ulbright-Hodes Syndrome |
|
Single umbilical artery, Pneumothorax, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:3404 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
Sitosterolemia 1 |
|
Splenomegaly, Coronary artery atherosclerosis, Carotid artery stenosis |
OMIM:210250 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Aspiration pneumonia, Sinus bradycardia |
OMIM:619482 |
Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Bicuspid aortic valve, Pulmonary hypoplasia, Camptodactyly |
OMIM:309800 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pat... |
OMIM:135900 |
Cousin Syndrome |
|
Ambiguous genitalia, female, Ambiguous genitalia, male |
OMIM:260660 |
Ulnar-Mammary Syndrome |
|
Elbow flexion contracture, Arrhythmia, Ventricular septal defect |
OMIM:181450 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Patent du... |
OMIM:268300 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Decreased fetal movement, Decreased muscle mass, Ventricular septal defect, Bil... |
OMIM:194190 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Diphallia |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:227 |
Neurofibromatosis Type 1 |
|
Hypertension, Arterial stenosis |
ORPHA:636 |
Hypercholesterolemia, Familial, 1 |
|
Tendon xanthomatosis, Coronary artery atherosclerosis |
OMIM:143890 |
Ablepharon-Macrostomia Syndrome |
|
Ambiguous genitalia, Micropenis, Hypoplastic labia majora |
OMIM:200110 |
Perlman Syndrome |
|
Hypoplasia of the abdominal wall musculature, Interrupted aortic arch, Congenital diaphragmatic h... |
OMIM:267000 |
Floating-Harbor Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... |
ORPHA:2044 |
Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Scapular winging, Bicuspid aortic valve, Myocardial infarction, Partial anomalous pulmonary venou... |
OMIM:150230 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis |
OMIM:209010 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Lower limb hypertonia, Patent foramen ovale |
ORPHA:477993 |
Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Facial palsy, Heart murmur, Tetralogy of Fallot, Patent foramen ovale |
OMIM:619325 |
Cornelia De Lange Syndrome |
|
Ventricular septal defect, Prenatal movement abnormality, Premature birth, Congenital diaphragmat... |
ORPHA:199 |
Faciocardiomelic Syndrome |
|
Common atrium |
OMIM:612731 |
Tibial Hemimelia |
|
Ambiguous genitalia, Cryptorchidism, Hypospadias |
ORPHA:93322 |
Craniorachischisis |
|
Congenital diaphragmatic hernia |
ORPHA:63260 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Patent foramen ovale, Asplenia |
ORPHA:221120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Muscular dystrophy |
OMIM:253280 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Secundum atrial septal defect, Subarterial ventricular septal defect... |
ORPHA:99646 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma,... |
ORPHA:116 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619522 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Prominent scalp veins, Pneumonia, Secundum atrial septal defect... |
OMIM:264090 |
Townes-Brocks Syndrome |
|
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... |
ORPHA:857 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Patent duc... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Flexion contracture, Abnormal heart m... |
ORPHA:261537 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect |
OMIM:620330 |
Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:304110 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, ... |
ORPHA:2152 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Otopalatodigital Syndrome, Type Ii |
|
Atrial septal defect, Stillbirth, Dilatation of the sinus of Valsalva, Elbow contracture |
OMIM:304120 |
Estrogen Resistance Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:785 |
Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis |
OMIM:144010 |
Lathosterolosis |
|
Ambiguous genitalia, male |
OMIM:607330 |
Iniencephaly |
|
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia |
ORPHA:63259 |
C Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia |
ORPHA:1308 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Congenital diaphragmatic hernia |
OMIM:305600 |
Witteveen-Kolk Syndrome |
|
Intracranial hemorrhage, Congenital diaphragmatic hernia, Contracture of the distal interphalange... |
OMIM:613406 |