Ventricular Septal Defect 1 |
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Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Pulmonic Stenosis And Deafness |
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Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Myxoma, Intracardiac |
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Cardiac myxoma, Pulmonic valve myxoma, Bacterial endocarditis |
OMIM:255960 |
Diamond-Blackfan Anemia 16 |
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Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
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Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Cranioacrofacial Syndrome |
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Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Congenital Heart Defects, Multiple Types, 6 |
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Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Atrial Septal Defect 8 |
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Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Pulmonic Stenosis |
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Pulmonic stenosis |
OMIM:265500 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Atrial Septal Defect 2 |
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Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Supravalvular Aortic Stenosis |
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Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Atrial Septal Defect 9 |
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Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Cardiac Septal Defects With Coarctation Of The Aorta |
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Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Mesoaxial Hexadactyly And Cardiac Malformation |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Atrial Septal Defect 1 |
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Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Partial Atrioventricular Septal Defect |
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Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Coronary Arterial Fistula |
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Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Abnormal le... |
ORPHA:2041 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Atrial Septal Defect 5 |
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Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
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Secundum atrial septal defect |
OMIM:614089 |
Congenital Heart Defects, Multiple Types, 7 |
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Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Heterotaxy, Visceral, 4, Autosomal |
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Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Cardiomyopathy, Dilated, 2H |
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Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Total Anomalous Pulmonary Venous Return 1 |
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Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia, Pulmonar... |
OMIM:106700 |
Atrial Septal Defect, Ostium Primum Type |
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First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Striatonigral Degeneration, Infantile |
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Dystonia, Optic atrophy, Choreoathetosis, Dysphagia, Spasticity |
OMIM:271930 |
Heterotaxy, Visceral, 6, Autosomal |
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Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Right Atrial Isomerism |
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Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Sinoatrial Node Dysfunction And Deafness |
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Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Chronic Atrial And Intestinal Dysrhythmia |
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Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Peripartum Cardiomyopathy |
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Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... |
ORPHA:563 |
46,Xx Sex Reversal 5 |
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Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Scimitar Syndrome |
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Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... |
ORPHA:185 |
Cardiac Valvular Dysplasia 2 |
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Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Heterotaxy, Visceral, 7, Autosomal |
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Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Leber Optic Atrophy And Dystonia |
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Skeletal muscle atrophy, Optic atrophy, Dysphagia, Bradykinesia, Athetosis, Dystonia, Spasticity,... |
OMIM:500001 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,... |
ORPHA:477817 |
Atrial Septal Defect, Sinus Venosus Type |
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Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
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Pulmonic stenosis |
OMIM:264140 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir... |
OMIM:619170 |
Tricuspid Atresia |
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Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Aortic Valve Disease 2 |
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Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... |
OMIM:115197 |
Cardiomyopathy, Familial Restrictive, 6 |
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Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenosis |
OMIM:619433 |
Pulmonary Atresia With Intact Ventricular Septum |
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Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep... |
OMIM:265380 |
Isobutyryl-Coa Dehydrogenase Deficiency |
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Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
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Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Multifocal Atrial Tachycardia |
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Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
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Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Dystonia 31 |
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Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... |
OMIM:619565 |
Wild Type Attr Amyloidosis |
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Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... |
ORPHA:330001 |
Heterotaxy, Visceral, 12, Autosomal |
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Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Atrial Fibrillation, Familial, 18 |
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Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Atrial Fibrillation, Familial, 10 |
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Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Congenital Gerbode Defect |
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Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... |
ORPHA:99095 |
Cardiac Diverticulum |
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Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Fixed Subaortic Stenosis |
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Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
8P23.1 Duplication Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Atrial Standstill |
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Ventricular escape rhythm, Skeletal muscle atrophy, Cardiac conduction abnormality, Atrial stands... |
ORPHA:1344 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Familial Isolated Restrictive Cardiomyopathy |
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Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, S... |
ORPHA:75249 |
Absence Of The Pulmonary Artery |
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Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa... |
ORPHA:980 |
Sarcosinemia |
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Hypertrophic cardiomyopathy, Peroneal muscle weakness, Optic atrophy, Pulmonic stenosis |
ORPHA:3129 |
Congenital Heart Defects, Multiple Types, 5 |
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Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Pulmonary Atresia With Ventricular Septal Defect |
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Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation,... |
ORPHA:1120 |
Congenital Heart Defects, Multiple Types, 9 |
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Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Ventricular Septal Defect 3 |
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Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Rhizomelic Syndrome |
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Pulmonic stenosis |
OMIM:268250 |
Myopathy, Myofibrillar, 1 |
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Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, EMG: myop... |
OMIM:601419 |
Myoclonus, Intractable, Neonatal |
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Optic disc pallor, Chorea, Athetosis, Myoclonus, Dysphagia, Increased variability in muscle fiber... |
OMIM:617235 |
Truncus Arteriosus |
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Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Early-Onset X-Linked Optic Atrophy |
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Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
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Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Coenzyme Q10 Deficiency, Primary, 7 |
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Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... |
OMIM:616276 |
Cirrhotic Cardiomyopathy |
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Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Abnormal bleeding, Pulmona... |
ORPHA:57777 |
Diamond-Blackfan Anemia 20 |
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Total anomalous pulmonary venous return |
OMIM:618313 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
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Ataxia, Involuntary movements, Babinski sign, Optic atrophy, Dysphagia, Clumsiness, Athetosis, Di... |
OMIM:271245 |
Atrial Septal Defect 4 |
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Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
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Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
Criss-Cross Heart |
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Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Dohle Bodies And Leukemia |
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Secundum atrial septal defect |
OMIM:223350 |
Familial Infantile Bilateral Striatal Necrosis |
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Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Dysphagia, Gait ataxia, Upp... |
ORPHA:225154 |
Ethanolaminosis |
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Death in infancy, Cardiomegaly |
OMIM:227150 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
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Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Primary Pulmonary Hypoplasia |
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Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal he... |
ORPHA:2257 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
Weill-Marchesani Syndrome |
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Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, A... |
OMIM:614702 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Overriding aorta, Patent ductus arteriosus, Severe failure to thrive, Pulmonic stenosis, Atrial s... |
ORPHA:3304 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Noonan Syndrome 11 |
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Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pne... |
ORPHA:99104 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Optic atrophy, Athetosis, Tetraparesis, Dystonia |
OMIM:619310 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Skeletal muscle atrophy, Secundum atrial septal defect, Coarctation of aorta, Prolonged prothromb... |
OMIM:614300 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extr... |
OMIM:615159 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Mast Syndrome |
|
Incoordination, Babinski sign, Spastic paraplegia, Dysphagia, Athetosis, Dysdiadochokinesis, Hype... |
OMIM:248900 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... |
OMIM:616866 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Small for gestational age, Nonimmune hydrops fetalis... |
OMIM:617021 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... |
OMIM:600884 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Limb joint contracture, Ataxia, Involuntary movements, Rigidity, Chorea, Babin... |
OMIM:617282 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Dysphagia, Choreoathetosis, Gait disturbance, Myoclonus,... |
ORPHA:391417 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... |
OMIM:265450 |
Double Outlet Right Ventricle |
|
Tachycardia, Failure to thrive, Ventricular septal defect, Tachypnea, Double outlet right ventric... |
ORPHA:3426 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Noonan Syndrome 8 |
|
Failure to thrive, Ventricular septal defect, Polyhydramnios, Large for gestational age, Patent d... |
OMIM:615355 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Optic atrophy, Spastic tetraplegia, Athetosis, Dystonia, Spasticity, Self-mutilation |
OMIM:250950 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber... |
OMIM:617519 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Patent ductus arteri... |
OMIM:612863 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athet... |
ORPHA:280219 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal de... |
OMIM:617397 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophi... |
OMIM:616277 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Apnea, Congestive heart failure, Bradycardia, Left ventric... |
OMIM:619048 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Abnormal autonomic nervous system physiology, ... |
OMIM:105210 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... |
OMIM:500003 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... |
OMIM:619909 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Absent brainstem auditory responses, Hypoventilation, Apnea, ... |
ORPHA:79330 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoclonus, Loss of ambul... |
OMIM:618241 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Patent... |
OMIM:601186 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
Verheij Syndrome |
|
Small for gestational age, Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:615583 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Abnormal pulmonary valve morphology, Pulmonic stenosis, Large for gestati... |
ORPHA:137634 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Choreoathetosis, Death in childhood, Dystonia,... |
OMIM:619422 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathet... |
OMIM:617964 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Abnormal optic disc morphology, Ventricular septal ... |
OMIM:617516 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... |
ORPHA:3097 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... |
ORPHA:3287 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Death in infancy, Edema, Patent ductus arteriosus, Ascites, Perimembranous ventricu... |
OMIM:608104 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... |
ORPHA:247604 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory... |
OMIM:253300 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... |
ORPHA:2299 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Torticollis, Ventricular septal defect, Truncus arteriosus, Con... |
OMIM:609029 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Optic atrophy, Myoclonus |
OMIM:609056 |
Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Optic atrophy, Abnormal pyramidal sign, Dysphagia, Athetosis, Dystonia, Loss of ambulatio... |
OMIM:617951 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... |
ORPHA:98811 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Epilepsy, Progressive Myoclonic, 8 |
|
Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, Gait disturbance, Myo... |
OMIM:616230 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... |
ORPHA:2414 |
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 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri... |
OMIM:617877 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pne... |
ORPHA:558 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia |
OMIM:118800 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy |
OMIM:619121 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Stillbirth, Aor... |
OMIM:615415 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Death in infancy, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, ... |
OMIM:618235 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat... |
OMIM:608804 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... |
OMIM:619705 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dy... |
ORPHA:199241 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hype... |
OMIM:618815 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... |
OMIM:606777 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Oral-pharyngeal dysphagia, Flexion contracture, Vocal cord paralysis, Distal se... |
OMIM:616287 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Optic atrophy, Ataxia |
OMIM:614559 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Agitation... |
OMIM:300438 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Optic atrophy |
OMIM:608688 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Pulmonary edema, Myocarditis, Cardiorespiratory arrest, Weight loss, Pedal edema, P... |
ORPHA:188 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Secundum ... |
ORPHA:2260 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Babinski sign, Dysmetria, Dysphagia, Choreoathetosis, Positive Romberg sign, Dystonia, Lo... |
OMIM:618088 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Fa... |
OMIM:612946 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... |
OMIM:614868 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
Marfan Syndrome |
|
Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation... |
OMIM:154700 |
3C Syndrome |
|
Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Abnormal mitral va... |
ORPHA:7 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Tethered cord, Mitral atresia, Patent ductus arteriosus, Optic atr... |
OMIM:618164 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Dystonia, Involuntary movements, Chorea, Dysphagia, Athetosis, Self-injurious behavior, Hyperkine... |
OMIM:617493 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Aplasia of the left hemidiaphragm, Dystonia,... |
OMIM:618238 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr... |
OMIM:620265 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Cor triatriatum, Recurrent respiratory infections, Sec... |
OMIM:612541 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali... |
ORPHA:382 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Truncus ar... |
OMIM:616589 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections, Failure to thrive, S... |
OMIM:620194 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... |
ORPHA:95434 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Multiple joint contractures, Ventricular septal defect, Truncus... |
ORPHA:96170 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Small for gestational age, ... |
OMIM:618775 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Death in infancy, Left ventricular noncompaction cardiomyopathy, Left atrial enlarg... |
OMIM:619424 |
Mungan Syndrome |
|
Abnormality of the autonomic nervous system, Tricuspid regurgitation, Perimembranous ventricular ... |
OMIM:611376 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atrop... |
OMIM:617710 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... |
OMIM:617300 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Right ventricular dilatation, Restrictive ventilatory defect, Myopathy, Limb-girdle... |
ORPHA:369840 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Myo... |
ORPHA:369847 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Dystonia, Paralysis, Athetosis, Dysphagia |
OMIM:300857 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia, Polyhydramnios, Ventricular septal hypertrophy, Abnormal aortic valve mor... |
OMIM:615280 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Failure to thrive, Pulmonic stenosis |
OMIM:615802 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Choreoathetosis, Dystonia |
OMIM:614932 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m... |
OMIM:611637 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect, Decreased body weight |
OMIM:618665 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Small for gestational age, Polyh... |
OMIM:301056 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Pain insensitivity, Death in infancy, Restlessness, Optic atrophy, Abnormal py... |
OMIM:614388 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Premature ovarian insufficiency, Unsteady gait, Optic atrophy, Secondary amenorrhea, Spasticity, ... |
OMIM:620312 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... |
OMIM:617022 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Pulm... |
OMIM:202650 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip... |
OMIM:617302 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion, Pulmonary arterial hypertension |
OMIM:234810 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level, Abnormal autono... |
ORPHA:441 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
3-Methylglutaconic Aciduria, Type Ix |
|
Clonus, Aggressive behavior, Optic atrophy, Choreoathetosis, Hypertonia, Spasticity |
OMIM:617698 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Tip... |
ORPHA:216866 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Death in infancy, Tremor, Inability to walk, Optic atrophy, Spasticity, Dysphagia, Choreoathetosi... |
OMIM:617664 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Optic atrophy, Bradycardia |
ORPHA:228346 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent du... |
OMIM:608149 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... |
ORPHA:363444 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia |
ORPHA:31709 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Respiratory ... |
OMIM:253800 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... |
ORPHA:70 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Skeletal muscle atrophy, Death in infancy, Secundum atrial septal defect, Congestiv... |
OMIM:608779 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Obesity, Spina bifida occulta... |
OMIM:201000 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect, Failure to thrive |
OMIM:620242 |
Choreoathetosis, Familial Inverted |
|
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance |
OMIM:118750 |
Sandestig-Stefanova Syndrome |
|
Small for gestational age, Muscular ventricular septal defect, Respiratory failure, Perimembranou... |
OMIM:618804 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... |
OMIM:270100 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal autonomic nervous sys... |
ORPHA:85447 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Acrocardiofacial Syndrome |
|
Death in infancy, Ventricular septal defect, Truncus arteriosus, Camptodactyly of finger, Coarcta... |
ORPHA:2008 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia |
OMIM:614820 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Edema, Right ventricular failure, Pulmonary embolism, Incr... |
ORPHA:70591 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Ragged-red muscle fibers, Left ventri... |
OMIM:252011 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
Noonan Syndrome 5 |
|
Polyhydramnios, Large for gestational age, Arrhythmia, Pulmonic stenosis, Atrial septal defect, H... |
OMIM:611553 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension, Recurrent respiratory infections |
OMIM:619758 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect, Contracture of the proximal interphalangeal ... |
OMIM:618109 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen... |
OMIM:616564 |
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 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Ogden Syndrome |
|
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricula... |
OMIM:300855 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Atrial septal defect, Pulmonary arteri... |
OMIM:614857 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... |
OMIM:312080 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Allan-Herndon-Dudley Syndrome |
|
Ataxia, Clonus, Inability to walk, Flexion contracture, Babinski sign, Spastic tetraplegia, Spast... |
OMIM:300523 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Small for gestational age, Cardiomegaly, Tachypnea, Hypertension, Death in chil... |
OMIM:613320 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... |
OMIM:618654 |
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 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Congenital diaphragma... |
OMIM:600001 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Incoordination, Ataxia, Clonus, Optic atrophy, Tetraplegia, Choreoathetosis, De... |
OMIM:616034 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutil... |
ORPHA:52503 |
Ravine Syndrome |
|
Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, At... |
ORPHA:99852 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal bleeding, Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Recurre... |
ORPHA:1900 |
Adult Krabbe Disease |
|
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata... |
ORPHA:206448 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Tyshchenko Syndrome |
|
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Re... |
OMIM:614654 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... |
OMIM:300989 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Perimembranous ventricular s... |
OMIM:618651 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Apnea, Optic nerve hypoplasia, Secundum atrial septal defect, Flexion contractu... |
OMIM:609069 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis, Motor tics |
OMIM:615483 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... |
OMIM:616028 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Congenital diaphragmatic hernia, Atrial septal defect... |
OMIM:300887 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Dysphagia, Opisthoto... |
ORPHA:13 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... |
ORPHA:49827 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate... |
OMIM:605275 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Pulmo... |
OMIM:618282 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... |
OMIM:611890 |
Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Neurogenic bladder, Spastic paraplegia, Distal sensory impairment, Gait ... |
OMIM:263570 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Camptodactyly of finger |
OMIM:619951 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia, Lethargy |
ORPHA:289916 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa... |
OMIM:606159 |
Legius Syndrome |
|
Supravalvar pulmonary stenosis |
OMIM:611431 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Polyhydramnios, Paten... |
OMIM:617506 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Optic disc pallor, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgit... |
OMIM:619167 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... |
OMIM:613954 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Tethered cord, Pulmonic sten... |
OMIM:620141 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Choreoathetosis,... |
ORPHA:319514 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Dystonia, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ... |
OMIM:613870 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Optic atr... |
ORPHA:85202 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... |
ORPHA:363705 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ... |
ORPHA:79328 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Increased nuchal translucency |
OMIM:620183 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... |
OMIM:619472 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Pat... |
OMIM:602782 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Costello Syndrome |
|
Ventricular septal defect, Failure to thrive in infancy, Polyhydramnios, Mitral valve prolapse, M... |
ORPHA:3071 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Optic atrophy, Choreoathetosis, Dystonia, Lethargy |
ORPHA:79312 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Stroke |
OMIM:182410 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity |
OMIM:617065 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... |
ORPHA:508498 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Polyhydramnios, Pulmonic stenosis, Edema |
OMIM:613224 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Patent ductu... |
OMIM:618316 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Babinski sign, Choreoathetosis, Limb dystonia, Frequent falls, Foot dorsifle... |
OMIM:619054 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Large for gestational age, Pulmonic... |
OMIM:610733 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... |
OMIM:212138 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Stereot... |
OMIM:618497 |
Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Calf m... |
OMIM:615673 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia, Hypertonia, Dys... |
OMIM:261640 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hy... |
OMIM:233910 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Premature ovarian insufficiency, Ataxia, Optic atrophy, Difficulty walking, Amenorrhea |
OMIM:619425 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... |
OMIM:615745 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Dystonia, Postural tremor, Dysphagia, Chorea, Optic atrophy, Abnormal br... |
ORPHA:98755 |
Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Chorea, Athetosis, Dystonia |
OMIM:615473 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia |
OMIM:617106 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Takenouchi-Kosaki Syndrome |
|
Lymphedema, Patent ductus arteriosus, Optic atrophy, Abnormal cardiac septum morphology, Pulmonic... |
OMIM:616737 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Dystonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Flexion c... |
OMIM:300055 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Choreoathetosis, Involuntary movements, Parkinsonism |
OMIM:616413 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Large for gestational age |
OMIM:613706 |
Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia |
OMIM:618141 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... |
OMIM:618845 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Failure to thrive, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls |
OMIM:301020 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Dystonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, ... |
OMIM:606703 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... |
OMIM:612422 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor, Oculomotor apraxia, Ataxia |
OMIM:617121 |
Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic lateral sclerosis, Decreased ne... |
OMIM:612577 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Athetosis, Spasticity, Ataxia, Dystonia |
OMIM:612951 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:616268 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... |
OMIM:609286 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respirato... |
OMIM:615917 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Aortic valve stenosis, Flexion contracture, Pulmonic stenosis |
ORPHA:75496 |
Foxg1 Syndrome |
|
Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walkin... |
ORPHA:561854 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Spastic tetraplegia, Athetosis, Self-injurious behavior, Dystonia |
OMIM:619922 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... |
OMIM:249420 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Dysphagia... |
ORPHA:391428 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Gordon Holmes Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Chorea, Secondary amenorrhea, Primary amenorrhea, Oligomen... |
OMIM:212840 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent duc... |
ORPHA:2847 |
Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Hypoplasia ... |
OMIM:605013 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Polyhydramnios, Patent ductus arteriosus, Apneic episodes in infan... |
OMIM:619967 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cranial nerve morphology |
ORPHA:228399 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Oral-pharyngeal dysphagia, Babinski sign, Hypoplasia of the ventral pons, Vi... |
ORPHA:2524 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Aort... |
OMIM:615779 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis, Lethargy |
ORPHA:27 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... |
OMIM:617228 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Optic atrophy, Cardiomyopathy, Stroke, Atrial ... |
OMIM:249270 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis |
ORPHA:1131 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Double outlet left ventricle, Failure to thrive, Ventricular septal defect,... |
ORPHA:2255 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Paresthesia |
OMIM:615361 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... |
OMIM:618914 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Patent ductus arteriosus, Coarctation of ao... |
ORPHA:3338 |
Oculocerebral Syndrome With Hypopigmentation |
|
Athetosis, Spasticity |
OMIM:257800 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... |
ORPHA:90308 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Failure to thrive, Bicuspid a... |
OMIM:617744 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... |
OMIM:309801 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops fetalis, Ascites, Dea... |
OMIM:269920 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia, Joint contracture, Limb... |
OMIM:614498 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Pulmonary edema, Cardiac conduction abnormality, Edema, Congest... |
ORPHA:466677 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Secundum atrial septal defect, Obesity |
OMIM:620072 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Inability to walk, Facial di... |
OMIM:612073 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke, Abnorm... |
ORPHA:268943 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambulation, Intention tremor,... |
ORPHA:157850 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septal defect, Sp... |
ORPHA:567 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Bicuspid aortic valve, Mitral atresia, Small for gestational age, Tachypnea, Ao... |
OMIM:220111 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect |
ORPHA:40366 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Failure to thrive, Pulmonic stenosis |
OMIM:616977 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Choreoathetosis, Athetosis, Chorea |
OMIM:309541 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Optic atrophy, Obesity, Anomal... |
OMIM:616368 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Waddling gait, Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal a... |
OMIM:611067 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Small for gestational age, Patent ductus arteri... |
OMIM:610443 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Slender build, Pulmonic stenosis |
OMIM:617600 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, Weakness of facial m... |
OMIM:618416 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ... |
ORPHA:261330 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Small for gestational age |
ORPHA:1439 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... |
ORPHA:268 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Small for gestational age, Congenita... |
OMIM:616777 |
Fumarase Deficiency |
|
Failure to thrive, Polyhydramnios, Optic atrophy, Perimembranous ventricular septal defect, Ascites |
OMIM:606812 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... |
OMIM:616501 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... |
OMIM:609942 |
Kabuki Syndrome 2 |
|
Coarctation of aorta, Pulmonic stenosis, Decreased body weight, Atrial septal defect, Atrioventri... |
OMIM:300867 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalize... |
OMIM:614437 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Flexion contrac... |
ORPHA:2590 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... |
OMIM:606070 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... |
ORPHA:555877 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Di... |
OMIM:604391 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Apnea, Edema, Abnormal heart morphology, Bradycardia, Hypotensi... |
ORPHA:391673 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic roo... |
OMIM:616652 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... |
OMIM:619317 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchie... |
OMIM:620233 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Spastic paraplegia, Optic atrophy, Opist... |
OMIM:614969 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperact... |
OMIM:234200 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in infancy, Failure to thrive in infancy, Cardiomegaly, Death in childhood, P... |
OMIM:619064 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve... |
ORPHA:52430 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... |
OMIM:617988 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic atrophy, Abnormal pyr... |
OMIM:618249 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsines... |
ORPHA:157941 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis |
OMIM:614325 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Failure to thrive in infancy, Lymphedema, Optic atrophy, Pulmoni... |
ORPHA:1340 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Optic nerve hypoplasia |
OMIM:619582 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormal a... |
ORPHA:1166 |
Tetanus |
|
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Autonomic b... |
ORPHA:3299 |
Salla Disease |
|
Inability to walk, Spasticity, Athetosis, Ataxia |
OMIM:604369 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Schimke X-Linked Mental Retardation Syndrome |
|
Choreoathetosis, Spasticity |
OMIM:312840 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Small for gestational age, Patent ductus arteriosus, Small thenar eminence, Pulmonary hypoplasia,... |
OMIM:619148 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Transaldolase Deficiency |
|
Edema, Abnormal respiratory system physiology, Hydrops fetalis, Hepatosplenomegaly, Biventricular... |
ORPHA:101028 |
Sulfite Oxidase Deficiency, Isolated |
|
Death in infancy, Generalized dystonia, Ataxia, Choreoathetosis, Hypertonia, Agitation, Hemiplegia |
OMIM:272300 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Monosomy 13Q34 |
|
Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Common atrium |
ORPHA:96168 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis,... |
OMIM:619745 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... |
ORPHA:3342 |
Pagod Syndrome |
|
Death in infancy, Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, ... |
ORPHA:991 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Flexion contracture, Spastic paraplegia, Choreoathetosis, Progres... |
OMIM:612233 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Pettigrew Syndrome |
|
Aggressive behavior, Aqueductal stenosis, Flexion contracture, Optic atrophy, Gait ataxia, Choreo... |
OMIM:304340 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Varicose veins, Camptodactyly, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Vas... |
OMIM:618343 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Neonatal respiratory distress, Diaphragmatic eventration, Ventricular septal defect... |
OMIM:620025 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atro... |
ORPHA:289560 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomy... |
OMIM:212140 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Intrinsic hand muscle atrophy, Dysphagia, Dystonia, Abnormal posturing |
OMIM:304700 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreo... |
OMIM:619653 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Anorexia, Tremor, Opisthotonu... |
ORPHA:79139 |
Costello Syndrome |
|
Ventricular septal defect, Tracheomalacia, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon cont... |
OMIM:218040 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai... |
ORPHA:542323 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration |
OMIM:618330 |
Free Sialic Acid Storage Disease |
|
Ataxia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal pyramidal sign, Athetosis,... |
ORPHA:834 |
Developmental And Epileptic Encephalopathy 44 |
|
Athetosis, Spasticity, Dystonia |
OMIM:617132 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Obesi... |
OMIM:615996 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... |
OMIM:614609 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis |
OMIM:212780 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Dysphagia, Gait ataxia, Titubation, Bradykin... |
ORPHA:225147 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... |
ORPHA:90068 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia, Spasticity |
ORPHA:702 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Optic nerve hypopla... |
ORPHA:508488 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Failure to thrive, Ventricular septal defect, Tracheomalacia, Patent duc... |
OMIM:612561 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... |
OMIM:256550 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Portal hyper... |
ORPHA:974 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Patent duct... |
OMIM:239850 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Splenomegaly, Optic nerve dysplasia, Pulmonic stenosis, Atrial septal defect, Hyp... |
OMIM:115150 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Apnea, Facial hypotonia, Cardiomegaly, Optic atrophy, Bilateral... |
ORPHA:97297 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... |
OMIM:620023 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Pa... |
ORPHA:210122 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Cap Myopathy |
|
Reduced systolic function, Central hypoventilation, Facial palsy, Abnormal muscle fiber morpholog... |
ORPHA:171881 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... |
ORPHA:904 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Small for gestational age, Secundum atrial septal defect, Patent ductus ar... |
OMIM:613355 |
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 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... |
ORPHA:2876 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Progres... |
OMIM:200150 |
Vascular Ehlers-Danlos Syndrome |
|
Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Respiratory insufficien... |
ORPHA:286 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis |
OMIM:619735 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return |
ORPHA:2311 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Diabetes mellitus, Decreased muscle glycogen content, ST segment elevation... |
ORPHA:263297 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... |
OMIM:253250 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... |
OMIM:267450 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Dysphagia, Choreoathetosis, Distal amyotrophy, Dystonia, Limb hypertonia |
OMIM:618247 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... |
ORPHA:226313 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Optic atrophy, Prolonged somatosensory evoked potentials, Mi... |
OMIM:616648 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Developmental And Epileptic Encephalopathy 1 |
|
Spastic tetraparesis, Abnormal pyramidal sign, Dysphagia, Choreoathetosis, Hypertonia, Dystonia, ... |
OMIM:308350 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Jaw claudication, Weight loss, Abnormal glossopharyngeal nerve morphol... |
ORPHA:221098 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral val... |
ORPHA:371428 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... |
ORPHA:536471 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li... |
OMIM:608643 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Pedal edema... |
ORPHA:228116 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia |
OMIM:615905 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Tetralogy o... |
ORPHA:251071 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
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 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy... |
OMIM:300963 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
ORPHA:500159 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough,... |
OMIM:619991 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... |
ORPHA:284984 |
Aminopterin/Methotrexate Embryofetopathy |
|
Ventricular septal defect, Situs inversus totalis, Spinal dysraphism, Pulmonary artery atresia, T... |
ORPHA:1908 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D... |
OMIM:616437 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Vascular dilatation, Respiratory insufficiency |
ORPHA:2924 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Small for gestational age, Optic atrophy, Atrial septal defect, Failur... |
OMIM:614261 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Polyhydramnios, ... |
OMIM:616867 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... |
OMIM:607225 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Ataxia, Parkinson... |
OMIM:614298 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... |
ORPHA:353281 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, Nodular pattern on pu... |
ORPHA:99931 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... |
ORPHA:2326 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Polyhydramnios, Flexion contracture, Aortic isthmus hypoplasia, Atrial sept... |
OMIM:180849 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Fail... |
OMIM:601808 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Small for gestational age, Valvular pulmonary stenosis, Atrial septal defe... |
OMIM:300707 |
Hereditary Methemoglobinemia |
|
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity |
ORPHA:621 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary movements, Abnormal bra... |
ORPHA:506 |
Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Facial palsy, Spina bifida occulta, Small thena... |
OMIM:607323 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Cerebrofacioarticular Syndrome |
|
Lymphedema, Abnormal heart morphology, Pulmonic stenosis, Camptodactyly, Tracheomalacia |
ORPHA:314679 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Ataxia, Flexion contracture, Abnormal pyramidal sign, Babinski sign, Spa... |
ORPHA:59 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Dilated cardiomyopathy, Bradycardia, Aspiration, Failure to thrive |
OMIM:610768 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Failure to thrive, Multiple muscular ventricular septal defects... |
OMIM:615508 |
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 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Peau d'orange, Death in infancy, Ventricular septal defect, Sple... |
OMIM:614576 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... |
ORPHA:2637 |
X-Linked Intellectual Disability, Schimke Type |
|
Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ... |
ORPHA:85285 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Hand tremor, G... |
OMIM:157640 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Weight loss, Palpitatio... |
ORPHA:100078 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Apnea, Episodic tachypnea, Abnormal heart morphology, Aspiration ... |
ORPHA:79264 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
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 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Abnormal heart morphology, Congenital contracture, Joint contracture o... |
ORPHA:352490 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Su... |
ORPHA:276244 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Folate Malabsorption, Hereditary |
|
Athetosis, Ataxia |
OMIM:229050 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy |
OMIM:312170 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Death in infancy, Ventricular septal defect, Neonatal death |
OMIM:613730 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... |
OMIM:232300 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Dural Sinus Malformation |
|
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Sub... |
ORPHA:97339 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
D-Glyceric Aciduria |
|
Neonatal respiratory distress, Optic nerve hypoplasia, Patent ductus arteriosus, Bradycardia, Fai... |
OMIM:220120 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Death in infancy, Morg... |
OMIM:613177 |
Birk-Landau-Perez Syndrome |
|
Facial hypotonia, Optic atrophy, Limb ataxia, Choreoathetosis, Difficulty walking, Dystonia, Ocul... |
OMIM:617595 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Spastic paraplegia, Babinski sign, Ab... |
ORPHA:459056 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... |
ORPHA:324604 |
Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Recurrent respiratory infections, Ventricular septal defect, Atrial septal def... |
OMIM:618950 |
Atelis Syndrome 2 |
|
Dyspnea, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic ... |
OMIM:620185 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Dysphagia, Athetosis, Hypopl... |
ORPHA:572798 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... |
OMIM:619518 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea, Episodic... |
ORPHA:2131 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gesta... |
OMIM:222470 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Lujo Hemorrhagic Fever |
|
Shock, Respiratory distress, Generalized edema, Crackles, Excessive bleeding after a venipuncture... |
ORPHA:319213 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atrial septal de... |
ORPHA:290 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly |
OMIM:616145 |
Legius Syndrome |
|
Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Mitral valve prolapse, Vestibular s... |
ORPHA:137605 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Small for gestational age, Embryonal rhabdomyosarcoma, Pulmonic stenosis, Atrial septal defect, O... |
OMIM:257300 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Congenital muscular torticollis, Abnormal lung lobation, Atrial septal defect, Trun... |
ORPHA:2538 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... |
OMIM:614653 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... |
ORPHA:340 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contr... |
OMIM:616897 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... |
ORPHA:98768 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory insufficien... |
ORPHA:1842 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Large for gestational age, Pulmo... |
OMIM:607721 |
Desmosterolosis |
|
Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:35107 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Macroglossia,... |
OMIM:615668 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dys... |
ORPHA:64753 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Dyspnea, Flexion contracture, Right bundle ... |
OMIM:614008 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... |
ORPHA:308552 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Miscarriage, Hypertension, Pulmonary ... |
OMIM:245150 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Pneumonia, Abnormality of the peripheral nervous system, R... |
ORPHA:48435 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... |
OMIM:619825 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Brea... |
ORPHA:438213 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Dural ectasia, Ascending ao... |
OMIM:616166 |
Developmental And Epileptic Encephalopathy 74 |
|
Choreoathetosis |
OMIM:618396 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Respiratory arrest |
OMIM:600649 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
Classic Galactosemia |
|
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... |
ORPHA:79239 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Myopathy, Distal arthrogryposis, A... |
ORPHA:42 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Patent ductus a... |
OMIM:617137 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... |
OMIM:620351 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Systemic Sclerosis |
|
Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Myocarditis... |
ORPHA:90291 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Small for gestational age, Splenomegaly, Patent ductus a... |
OMIM:606003 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Brittle Cornea Syndrome |
|
Camptodactyly, Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block |
OMIM:614407 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Optic atrophy, Right atrial enlargement |
OMIM:615219 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Asthma, Respiratory insuffic... |
ORPHA:488632 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea... |
OMIM:614921 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Spina bifida oc... |
ORPHA:230839 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta h... |
ORPHA:141127 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... |
ORPHA:500533 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, Limb muscle weakness |
OMIM:619259 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia |
OMIM:245348 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Al Amyloidosis |
|
Nonproductive cough, Xerostomia, Abnormal EKG, Hepatomegaly, Abnormal autonomic nervous system ph... |
ORPHA:85443 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Speech apraxia, Lower limb spasticity, Postural tremor, Rigidity, Oculomotor apraxia, Unsteady ga... |
ORPHA:412057 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve, Decreased body weight |
OMIM:300958 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Dur... |
OMIM:614816 |
Ogden Syndrome |
|
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia |
ORPHA:276432 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Oculomotor apraxia, Obesity, Hypertonia, Molar tooth sign on MRI |
OMIM:612291 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Flexion contracture, Brad... |
OMIM:610015 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Slender build, Dyspnea, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic... |
OMIM:615156 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Respiratory distress, Ventricular septal defect... |
ORPHA:26793 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Tetralogy ... |
ORPHA:2970 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo... |
OMIM:618494 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Failure to thrive in infancy, Elbow flexion contra... |
OMIM:618156 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Spasticity, Self-mutilation |
OMIM:308950 |
Robinow Syndrome |
|
Ventricular septal defect, Small for gestational age, Abnormal heart morphology, Coarctation of a... |
ORPHA:97360 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Hypomimic f... |
ORPHA:247234 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma |
OMIM:241310 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Peters Plus Syndrome |
|
Polyhydramnios, Patent ductus arteriosus, Bicuspid pulmonary valve, Optic atrophy, Spina bifida o... |
ORPHA:709 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia, Vascular dilatation |
OMIM:187260 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Opist... |
OMIM:619580 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Ventricular septal defect, Failure to thrive in infancy, Lymphedema, Patent du... |
OMIM:163950 |
Stiff Skin Syndrome |
|
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture |
OMIM:184900 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Spasticity |
OMIM:618451 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Death in infancy, Sudden cardiac death, Cardiomega... |
OMIM:201475 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphis... |
ORPHA:1926 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne... |
OMIM:619435 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... |
ORPHA:365 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Rigidity, Inability to walk, Athetosis, Spasticity |
OMIM:257200 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... |
OMIM:265120 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca... |
OMIM:613507 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension |
OMIM:618886 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni... |
ORPHA:1692 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Congenital diaphragmati... |
OMIM:208050 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Flexion contracture, Ataxia |
OMIM:617562 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Mitral regurgitation,... |
OMIM:615879 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Choreoathetosis, Spasticity, Optic atrophy, Spastic diplegia |
ORPHA:2715 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Optic atrophy, Hydro... |
ORPHA:3378 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2nd toe, Abnormal car... |
ORPHA:2712 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Patent ductus arteriosus after birth at term... |
ORPHA:529962 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi... |
OMIM:300166 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Cervical cord compression, Atrial septal defect, Aspiratio... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Cervical cord compression, Atrial septal defect, Aspiratio... |
ORPHA:353277 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Optic atrophy... |
ORPHA:457193 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sling, Patent ductus arteriosu... |
OMIM:235730 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... |
OMIM:208000 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Episodic Ataxia Type 1 |
|
Poor coordination, Clumsiness, Choreoathetosis, Calf muscle hypertrophy, Hypertonia, Tip-toe gait |
ORPHA:37612 |
Mass Syndrome |
|
Dural ectasia, Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... |
ORPHA:97214 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia |
OMIM:617450 |
Joubert Syndrome 20 |
|
Aggressive behavior, Inability to walk, Oculomotor apraxia, Molar tooth sign on MRI, Self-mutilation |
OMIM:614970 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Flexion contracture, Optic ... |
OMIM:619383 |
Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Small for gestat... |
OMIM:619488 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Pain insensitivity, Facial hypotonia, Involuntary movements, Oral-pharyngeal dyspha... |
OMIM:615273 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Neonatal respiratory distress, Tricuspid regurgitation, Ventricular septal defect, Scapular wingi... |
OMIM:618870 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Optic atrophy, Ventricular septal defect |
OMIM:220500 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Small for gestational age, Failure to thrive in infancy, Facial... |
ORPHA:261311 |
Tarp Syndrome |
|
Neonatal death, Athetosis, Optic atrophy |
OMIM:311900 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defe... |
OMIM:620070 |
Boucher-Neuhauser Syndrome |
|
Ataxia, Gait ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Spasticity, Inten... |
OMIM:215470 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Congestive heart failure, S... |
OMIM:617303 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Pulm... |
ORPHA:261494 |
Sheehan Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... |
ORPHA:91355 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... |
OMIM:616894 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:610978 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Babinski sign, Inappropriate behavior, Gait disturbance, Myoclonus, Disinhib... |
OMIM:221770 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... |
OMIM:619329 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Failure to thrive, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph... |
OMIM:617713 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... |
OMIM:618027 |
Desmosterolosis |
|
Patent ductus arteriosus, Total anomalous pulmonary venous return |
OMIM:602398 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valv... |
OMIM:175050 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Death in infancy, Ventricular septal defect, Small for gestational age, Oligoh... |
OMIM:208085 |
Pyruvate Carboxylase Deficiency |
|
Athetosis, Clonus |
OMIM:266150 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Congenital foot contractures, Bradycardia... |
ORPHA:565624 |
Thanatophoric Dysplasia |
|
Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Respiratory insufficienc... |
ORPHA:2655 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Mitr... |
OMIM:603387 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Enlarged polycystic ovaries, Hypovolemia, Capillary leak, Peripheral edema, Pl... |
ORPHA:64739 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Skeletal muscle atrophy, Stroke-like episode, Bradycardia, Pulmonary arteri... |
OMIM:619272 |
Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Aortic valve stenosis, Failure to thrive, Bicuspid aortic valve |
OMIM:243310 |
Von Hippel-Lindau Disease |
|
Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocr... |
ORPHA:892 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Abdominal obesity, Camptod... |
OMIM:301039 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... |
ORPHA:230851 |
Vici Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Congestive heart failure, Dilated cardiomyop... |
OMIM:242840 |
Autosomal Recessive Cutis Laxa Type 1 |
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Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... |
ORPHA:90349 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial septal defect |
ORPHA:261295 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Aganglionic megacolon, Peripheral pulmonary artery stenosis |
OMIM:614749 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Apneic episodes in infancy, Limb hypertonia |
OMIM:301058 |
Thanatophoric Dysplasia Type 2 |
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Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Respiratory insufficienc... |
ORPHA:93274 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Hepatosplenomegaly |
OMIM:618955 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... |
ORPHA:505248 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Ventricular septal defect, Overweight, Patent ductus arteriosus, Recurrent pneumonia, Recurrent u... |
OMIM:619769 |
Hellp Syndrome |
|
Generalized edema, Cerebral hemorrhage, Increased body weight, Prolonged prothrombin time, Hypote... |
ORPHA:244242 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hepatom... |
ORPHA:99827 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter |
OMIM:188580 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Lymphedema, Patent ductus arteriosus, Flexion contracture, Optic atrophy, Abnormal heart morpholo... |
ORPHA:487796 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Nmda Receptor Encephalitis |
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Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Rigid... |
ORPHA:217253 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... |
OMIM:143095 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
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Atrial septal defect |
OMIM:620094 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... |
OMIM:608013 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Tachycardia, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Palpitations, Hyperinsulinemic ... |
ORPHA:276575 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Death in infancy, Polyhydramnios, Patent ductus arteriosus, Opt... |
ORPHA:1790 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Facial hypotonia, Limb joint contracture, Inability to walk, Achilles tendon c... |
ORPHA:404454 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Recurrent respiratory infections, Small for gestational age, Pneumonia, Se... |
OMIM:264090 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... |
OMIM:615356 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Spina bifida occulta, Hypert... |
ORPHA:52 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Small for gestational age, Episodic tachypnea |
OMIM:615160 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Inability to walk, Slurred speech, Athetosis, Dystonia, Spasticity |
ORPHA:357058 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Palpitations... |
ORPHA:276580 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... |
OMIM:109730 |
Hardikar Syndrome |
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Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... |
OMIM:301068 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... |
ORPHA:465508 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, H... |
ORPHA:2038 |
Digeorge Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Chronic pulmonary obstruction,... |
OMIM:188400 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Abnorm... |
ORPHA:97685 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Aganglionic megacolon |
OMIM:239300 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Facial hypotonia, Slender build, Polyhydramnios |
OMIM:611087 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysphagia, Athetosis, Limb d... |
ORPHA:25 |
Coach Syndrome 1 |
|
Optic disc pallor, Hepatomegaly, Portal hypertension, Splenomegaly, Hypertension, Vascular dilata... |
OMIM:216360 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Neonatal respiratory distress, Death in infancy, Apnea, Cardiomegaly, Dilated cardi... |
OMIM:608836 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Atrial septal defect, Polyhydramnios, Oligohydramnios |
OMIM:615476 |
Megalencephaly |
|
Atrial septal defect, Truncal obesity |
ORPHA:2477 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Subarterial ven... |
ORPHA:99646 |
Snijders Blok-Fisher Syndrome |
|
Choreoathetosis, Spasticity, Facial hypotonia, Opisthotonus |
OMIM:618604 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Pericarditis, Myocarditis, Dyspnea, Atelectasis, Large vessel va... |
ORPHA:728 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia |
OMIM:616781 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Pulmonary artery stenosis, Patent ductus arte... |
ORPHA:96167 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... |
ORPHA:401923 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve, Foot joint contracture |
OMIM:619641 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect... |
ORPHA:485405 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Polyhydramnios |
ORPHA:466926 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Left ventricular hyp... |
OMIM:613873 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho... |
ORPHA:1666 |
Joubert Syndrome 4 |
|
Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thic... |
OMIM:609583 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Tethered cord, Ventricular septal defect, Bicuspid aortic valve, Patent du... |
OMIM:130720 |
Distal Triplication 15Q |
|
Large for gestational age, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture... |
ORPHA:314588 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal lung... |
ORPHA:167635 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... |
ORPHA:276556 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Athetosis, Distal amyotrophy |
OMIM:219150 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Congenital diaphragmatic hernia, Choreoathetosis, Syringomyelia, Attention defici... |
ORPHA:261197 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Patent ductus arteriosus, Xerostomia, Severe failure... |
ORPHA:1051 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Optic nerve hypoplasia, Mitral valve prolapse, Coarctation of a... |
ORPHA:93932 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral re... |
ORPHA:363700 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... |
ORPHA:90307 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal v... |
ORPHA:163956 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Contracture of the distal interphalangeal joint of the finger... |
ORPHA:83617 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... |
ORPHA:93256 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Syringomyelia, Camptodactyly, Atrial septal de... |
OMIM:614846 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha... |
OMIM:300998 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Death in infancy, Optic neuropathy, Dyspnea, Patent ductus arteriosus, Dilated card... |
OMIM:610505 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Failure to thrive, Patent foramen ovale, Small for gestational age |
OMIM:610883 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Macroglossia, Bradycardia,... |
ORPHA:90674 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Decreased body weight, Atrial septal defect, P... |
OMIM:609053 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hoffmann sign, Babinski sign... |
OMIM:601162 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... |
OMIM:193400 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Facial hypotonia, Congeni... |
OMIM:312870 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Failure to thrive in infan... |
OMIM:194050 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Obesity |
ORPHA:1035 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased... |
ORPHA:275766 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Splen... |
ORPHA:667 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Dyspnea, Death in childhood, Hypertrophic cardiomyopathy, Failure to thrive, Patent... |
OMIM:614582 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Vascular dilatation |
OMIM:614859 |
Stevenson-Carey Syndrome |
|
Central hypoventilation, Left superior vena cava draining to coronary sinus, Camptodactyly, Atria... |
OMIM:611961 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... |
ORPHA:624 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Dystonia, Ataxia, Incoordination, Involuntary movements, Abnormal eating behavior,... |
ORPHA:209905 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Syringomyelia, Wrist flexion contracture, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Small for g... |
ORPHA:84064 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormal heart morphology, Vascular d... |
OMIM:617641 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale, Respiratory distress |
ORPHA:89844 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale, Oligohydramnios |
OMIM:616854 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Babinski sign, Optic atrophy, Scissor gait, Choreoathetosis, Hypertonia, Spasticity |
OMIM:278800 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Flexion contracture, Dilation of Virchow-Robin spaces, Bicuspid aortic valve |
OMIM:619720 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Oligohydramnios, Hepatospl... |
OMIM:267010 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... |
OMIM:611812 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Bruxism, Athetosis, Dystonia, Spasticity, Apraxia, Abnormal repetitive ... |
OMIM:613454 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Truncal ataxia |
OMIM:617761 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Camptodactyly of finger, Tracheomalacia |
ORPHA:896 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Optic nerve dysplasia, Optic atrophy, Death in adolescence, Athetosis, Camptoda... |
OMIM:614866 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal de... |
OMIM:617660 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Gait ataxia |
OMIM:617120 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Congenital diaphragmatic hernia... |
ORPHA:1596 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Dystonia |
ORPHA:309246 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hemifacial spasm, Hyperactivity, Ataxia, Brainstem dysplasia, Aggressive behav... |
OMIM:213300 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... |
ORPHA:3405 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Abnormal... |
ORPHA:94093 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Flexion contracture, Decreased body weight, Atrial septal defect, Fail... |
OMIM:617452 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Large for gestational age |
OMIM:617757 |
Mckusick-Kaufman Syndrome |
|
Failure to thrive, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Hy... |
ORPHA:2473 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Small for gestational age, Ventricular septal defect, Abnormal lung lobatio... |
OMIM:614114 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ... |
ORPHA:2519 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... |
ORPHA:457279 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd... |
ORPHA:96201 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Hepatomegaly, Tachycardia, Small for gestational age, Abnormal mucociliary cle... |
ORPHA:90051 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Dyspnea, Patent ductus arteriosus, Congenital contracture, Atrial septal defect, Pulmonary arteri... |
ORPHA:261279 |
Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology, Impulsivity, Dysphagia |
ORPHA:280195 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia |
OMIM:612164 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ... |
OMIM:620306 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Coarctation ... |
OMIM:617602 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Mitral atresia, Pulmonary artery stenosis, Abnormal cardiac septum morpholo... |
ORPHA:140952 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Diaphragmatic eventration |
OMIM:617808 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Respiratory failure, Cardiomy... |
ORPHA:158687 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Abnormal lung mor... |
ORPHA:1708 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia |
OMIM:617767 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Mitral regurgitation, Neonatal d... |
OMIM:620244 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Polydipsia, Cerebral palsy, Spastic paraplegia |
ORPHA:369929 |
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 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Limb joint contracture, Ventricular septal defect, Decreased body weight, Atrial septal defect, F... |
ORPHA:505237 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Abnormal umbilical stump bleeding, Prolonged prothrombin time, Gi... |
ORPHA:335 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... |
OMIM:612582 |
White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Atrial septal defect, Total anomalous pulmonary venous return |
OMIM:609945 |
Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Gait disturbance, Molar tooth sign on MRI |
ORPHA:220497 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Decreased body weight |
OMIM:614886 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Patent ductus arteriosus, Respiratory failure, Atrial septal defect, Pate... |
OMIM:620327 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Dehydratio... |
ORPHA:79404 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myocl... |
OMIM:616271 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Obesity, Mitral regurgitation, Atrial septal def... |
ORPHA:254346 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Failure to thrive, Cardiomegaly |
ORPHA:349 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Atrial septal defect,... |
OMIM:301030 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Joubert Syndrome 3 |
|
Atrial septal defect, Episodic tachypnea, Neonatal breathing dysregulation, Central apnea |
OMIM:608629 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Respir... |
OMIM:601559 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Polyhydramnios |
ORPHA:261272 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Failure to thrive, Small for gestational age, Patent ductus arteriosus, Double... |
OMIM:619869 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... |
OMIM:253310 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Neonatal respiratory distress, Ventricular septal defect, Coarctation of aorta... |
OMIM:244450 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Hypogonadism, Elevated... |
OMIM:602668 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... |
ORPHA:99776 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Pain insensitivity, Inability to walk by childhood/adolescence, Choreoathetosis, Ath... |
OMIM:620224 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff... |
ORPHA:363623 |
Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Respiratory insufficienc... |
ORPHA:1860 |
Fucosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Flexion contracture, ... |
OMIM:230000 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Joubert Syndrome 2 |
|
Ataxia, Brainstem dysplasia, Oculomotor apraxia, Optic disc coloboma, Hypoplasia of the brainstem... |
OMIM:608091 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:617159 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Sple... |
ORPHA:581 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Oligomenorrhea, Secondary amenorrhea |
OMIM:618096 |
Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... |
ORPHA:115 |
Cardiomyopathy, Dilated, 2E |
|
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... |
OMIM:619492 |
Orofaciodigital Syndrome I |
|
Hypertension, Vascular dilatation, Abnormal heart morphology |
OMIM:311200 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Ataxia, Dysphagia, Type 2 muscle fiber predominance, Choreoathetosis, Dy... |
OMIM:615471 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Camptodactyly of finger |
ORPHA:776 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Atrophy of the spinal cord, Dilated cardiomyopathy, Sub... |
ORPHA:79282 |
White-Sutton Syndrome |
|
Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Patent ductus arterios... |
OMIM:616364 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
Noonan Syndrome 13 |
|
Lymphedema, Mitral valve prolapse, Mitral regurgitation, Atrial septal defect, Bruising susceptib... |
OMIM:619087 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Progressive flexion contractures, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Ch... |
ORPHA:522077 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arteriosus, Ach... |
ORPHA:363528 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mellitus, Arthrog... |
OMIM:618397 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis |
OMIM:618857 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasi... |
OMIM:618278 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Spastic tetraplegia, Athetosis, Left ventricular hypertrophy, Spasticity |
OMIM:615474 |
Marburg Hemorrhagic Fever |
|
Shock, Abnormal bleeding, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Non... |
ORPHA:99826 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Camptodactyly |
ORPHA:459061 |
Joubert Syndrome 7 |
|
Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the brainstem, Molar tooth sign on... |
OMIM:611560 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... |
OMIM:244300 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Camptodactyly of finger, Congenital malformation of the left heart, Optic ... |
ORPHA:3455 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Gait disturbance, Molar tooth sign on MRI |
ORPHA:220493 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Lymphedema, Restrictive ventilatory defect, Pulmonary lymphangiectasia, Mitral valve prolapse |
OMIM:247410 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Abnormal c... |
OMIM:249000 |
Abcd Syndrome |
|
Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan... |
OMIM:600501 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Failure to thrive, Mitral valve prolapse |
OMIM:300986 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph... |
OMIM:235510 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... |
ORPHA:445038 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... |
ORPHA:96191 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Recurrent lower respiratory tract... |
OMIM:618005 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Recurrent respiratory infections, Internal carotid artery dissection, Bicuspid aortic valve, Cere... |
OMIM:150230 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, A... |
ORPHA:68 |
Noonan Syndrome |
|
Abnormal bleeding, Hepatomegaly, Abnormal pulmonary valve morphology, Lymphedema, Pulmonary arter... |
ORPHA:648 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Distal Deletion 10Q |
|
Scapular winging, Patent ductus arteriosus, Spina bifida occulta, Facial diplegia, Atrial septal ... |
ORPHA:96148 |
Al Kaissi Syndrome |
|
Atrial septal defect, Torticollis, Decreased body weight |
OMIM:617694 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... |
OMIM:619268 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Bruising susceptibility, Arterial rupture |
OMIM:619115 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Ventricular septal defect, Failure to thrive in infancy,... |
OMIM:615582 |
Grange Syndrome |
|
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... |
OMIM:602531 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia |
OMIM:619113 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Recurrent respiratory infections, Asthma, Patent ductus art... |
ORPHA:251061 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Apnea, Patent ductus arteriosus, Recurrent upp... |
OMIM:602535 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Overweight, Hematochezia, Failure to... |
OMIM:619575 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar... |
ORPHA:2463 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia |
ORPHA:431361 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Palpebral edema, Patent ductus arteriosus, Hepatosplenomegaly, Macroglossia, Camptodactyly, Atria... |
ORPHA:397709 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... |
OMIM:123700 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia |
OMIM:614464 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Recurrent bronchitis, Cardi... |
OMIM:252500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... |
OMIM:309520 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Limb hypertonia |
OMIM:617190 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Failure to thrive, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve mor... |
ORPHA:261552 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent ductus arteriosus, Increased nuchal translucency, Proximal muscle weakness in lower limbs,... |
ORPHA:280633 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Pulm... |
ORPHA:1335 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Truncal obesity, Decreased body weight, Atrial septal defect, Patent f... |
OMIM:270450 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia |
OMIM:619314 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Macroglossia, Failure to thri... |
OMIM:613457 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
Slc35A2-Cdg |
|
Limb joint contracture, Camptodactyly of finger, Abnormal midbrain morphology, Spastic tetrapares... |
ORPHA:356961 |
Tarp Syndrome |
|
Apnea, Optic atrophy, Tetralogy of Fallot, Pulmonary hypoplasia, Atrial septal defect, Failure to... |
ORPHA:2886 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Patent foramen ovale, Telangiectases of the cheeks, Hepatosplenomegaly,... |
ORPHA:576 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Apnea, Tracheomalacia, Polyhydramnios, Patent ductus art... |
OMIM:300373 |
Lesch-Nyhan Syndrome |
|
Dysphagia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of extrapyramidal ... |
OMIM:300322 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal ... |
ORPHA:228308 |
Joubert Syndrome 14 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Optic atrophy, Ataxia |
OMIM:614424 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Small for gestational age, Dextrocardia, Patent ductus arteriosus, Atrial septal de... |
OMIM:277380 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios... |
ORPHA:51608 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Dehydration, Decreased body weight, Atrial septal defect, Double outlet right ventr... |
ORPHA:1667 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Increased nuchal transl... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Increased nuchal transl... |
ORPHA:352665 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Portal hypertension, Situs inversus totalis, Splenomegaly, Patent ductus arteriosus... |
OMIM:208540 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:612289 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Patent ductus arterio... |
ORPHA:96121 |
Lead Poisoning |
|
Abnormal sperm morphology, Decreased female libido, Somatic sensory dysfunction, Anorexia, Abnorm... |
ORPHA:330015 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse |
OMIM:173900 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Failure to thrive, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Aganglionic megaco... |
ORPHA:261537 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... |
OMIM:616449 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vascular dilatation |
OMIM:617219 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus |
OMIM:619143 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Aganglionic megacolon, Ataxia |
ORPHA:2318 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Pulmonic st... |
OMIM:261540 |
Hydranencephaly |
|
Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula... |
ORPHA:2177 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypoxemia, Hypertension, Stroke |
OMIM:603903 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, Abnormal cardi... |
ORPHA:284979 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Patent ductus arteriosus, Abnormal hear... |
ORPHA:79076 |
Joubert Syndrome 6 |
|
Ataxia, Oculomotor apraxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated super... |
OMIM:610688 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Aggressive behavior, Ragged-red muscle fibers, Flexion contracture, Rhab... |
ORPHA:17 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Optic disc ... |
OMIM:618454 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Aganglionic megacolon, Pulmonary artery sling, Patent ductus arteriosus, F... |
ORPHA:2152 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Telangiectasia of the skin, Congenital diaphragmatic hernia, Diastasis... |
ORPHA:2092 |
Sotos Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Increase... |
OMIM:117550 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Large for gestational age, Pulmonary artery stenosis, Jo... |
OMIM:280000 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Patent ductus arteriosus, Hypopnea, Respiratory failure, Bradycardia, Ne... |
OMIM:617248 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Miscarriage, Involunta... |
ORPHA:3385 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Spina bifida occulta |
OMIM:617360 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Athetosis, Flexion contracture, Elbow flexion contracture |
OMIM:614438 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Flexion contracture, Optic atrophy, ... |
OMIM:147791 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... |
OMIM:264480 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Oculomotor apraxia |
OMIM:618161 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Pat... |
ORPHA:2745 |
Hallermann-Streiff Syndrome |
|
Choreoathetosis, Hyperactivity, Optic disc coloboma, Spina bifida |
OMIM:234100 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Congenital Myopathy 12 |
|
Death in infancy, Small for gestational age, Polyhydramnios, Respiratory insufficiency due to mus... |
OMIM:612540 |
Glutaric Acidemia I |
|
Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia |
OMIM:231670 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Athetosis, Abnormality of extrapyramidal mo... |
ORPHA:2719 |
Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct... |
OMIM:605130 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Small for gestational age |
OMIM:609625 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Apnea, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal translucency, Abn... |
ORPHA:1052 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect, Aganglionic megacolon |
OMIM:614207 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Hypertension, Proximal limb muscle stiffness, Asymmetric limb mus... |
OMIM:184850 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... |
ORPHA:85438 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Vascular dilatation |
OMIM:617056 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... |
OMIM:611962 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regur... |
OMIM:613563 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI |
OMIM:300804 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse |
ORPHA:251066 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Athetosis, Spasticity, Hypertonia, Spastic tetraplegia |
ORPHA:79351 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Small for gestational age, Portal hypertension, Situs in... |
OMIM:243800 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
Bdv Syndrome |
|
Atrial septal defect, Obesity |
OMIM:619326 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosu... |
OMIM:301043 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Elbow contracture, Asthma, Patent ductus arteriosus, Knee flexion contracture,... |
OMIM:618162 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Facial hypotonia |
OMIM:614526 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:721 |
Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Miscarriage, Myocardial infarction, Abnormal... |
ORPHA:902 |
Bohring-Opitz Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Flexion contracture, Ca... |
OMIM:605039 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Wilson Disease |
|
Aggressive behavior, Abnormality of the menstrual cycle, Hypersexuality, Clumsiness, Proximal mus... |
ORPHA:905 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Recurrent upper respiratory tr... |
ORPHA:264450 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve |
ORPHA:96169 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Ascen... |
OMIM:617403 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Papilledema, Asthma, Obesity |
OMIM:619471 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu... |
ORPHA:464738 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect... |
OMIM:607872 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Flexion contracture, Generalized limb mu... |
OMIM:618891 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Failure to thrive |
OMIM:603467 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Macroglossia, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemor... |
ORPHA:536545 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Respiratory distress |
OMIM:610536 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... |
OMIM:618143 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Vascular dilatation, Cough |
ORPHA:2314 |
Myhre Syndrome |
|
Ventricular septal defect, Small for gestational age, Pericardial effusion, Patent ductus arterio... |
OMIM:139210 |
Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Congestive heart fail... |
OMIM:182250 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Arrhythmia, Tracheobronchomalacia, Patent foramen ovale |
OMIM:619184 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:609152 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Pneumothorax, Mitral ... |
OMIM:617402 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Tethered cord, Abnormal heart valve morphology, Congenital diap... |
ORPHA:280 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Small for gestational age, Spontaneous pneumothorax, Pulmonary arteriove... |
OMIM:606721 |
De Barsy Syndrome |
|
Athetosis, Decreased muscle mass, Progressive cerebellar ataxia |
ORPHA:2962 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
Fryns Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Polyhydramnios, Large for gestational age, Apla... |
OMIM:229850 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:1915 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... |
OMIM:600268 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... |
ORPHA:96334 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... |
OMIM:614185 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Patent ductus arter... |
OMIM:269860 |
Fanconi Anemia |
|
Aganglionic megacolon, Spina bifida, Patent ductus arteriosus, Weight loss, Abnormal cardiac sept... |
ORPHA:84 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Slende... |
ORPHA:466791 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Genitopatellar Syndrome |
|
Hip contracture, Apnea, Knee flexion contracture, Pulmonary hypoplasia, Atrial septal defect, Art... |
ORPHA:85201 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171420 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypopla... |
OMIM:274000 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Neonatal asphyxia, Heart murmur |
ORPHA:2728 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Cough... |
ORPHA:3260 |
Zttk Syndrome |
|
Aortic regurgitation, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arterios... |
OMIM:617140 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Small for gestational age, Dilated cardiomyopathy, Biventricular hypertrophy, Hyper... |
OMIM:619573 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Optic disc coloboma, Ventricular septal defect, Camptodactyly of finger |
ORPHA:251014 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Camptodactyly |
OMIM:618529 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... |
OMIM:257920 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Large for gestational age, Polyhydramnios, Patent ductus arterio... |
OMIM:614080 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Pat... |
ORPHA:261337 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal lung lobation, Obesity, Abnormal heart morphology, Atrial sept... |
ORPHA:369837 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral camptodactyly, Chorea, Elbow flexion contracture, Gait ataxia, Choreoathetosis, Myoclon... |
OMIM:619777 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Calcification of the aor... |
ORPHA:51 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Weight loss, Varicose veins, Syncope,... |
ORPHA:71273 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation of the ventricul... |
ORPHA:459070 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Respiratory insufficiency, Int... |
ORPHA:163979 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
ORPHA:1465 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Tetralogy of Fallot, Coarctation of aorta, Stroke, Renal artery stenos... |
OMIM:118450 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect, Polyhydramnios, Edema |
ORPHA:2347 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,... |
ORPHA:117 |
Gastritis, Familial Giant Hypertrophic |
|
Vascular dilatation |
OMIM:137280 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory dis... |
OMIM:300968 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... |
ORPHA:3472 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Involuntary movements, Spinal cord compression, Choreoathetosis, Paresthesia, Myoclon... |
ORPHA:79443 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Oculomotor apraxia |
OMIM:614465 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Polyhydramn... |
ORPHA:3047 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery, Aganglionic megacolon |
ORPHA:895 |
Abetalipoproteinemia |
|
Abnormal bleeding, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Respiratory fa... |
ORPHA:14 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Optic atrophy, Atrial septal defect, Arthrogryposis multiplex c... |
OMIM:619512 |
Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:565 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... |
ORPHA:90348 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Spinal cord compression, Flexion contracture, M... |
OMIM:271640 |
Spondyloocular Syndrome |
|
Lymphedema, Mitral valve prolapse, Decreased body weight, Atrial septal defect, Dysplastic aortic... |
OMIM:605822 |
Loeys-Dietz Syndrome |
|
Abnormal bleeding, Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus ar... |
ORPHA:60030 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Facial palsy, Obesity, Heart murmur, Mitral valve prolapse, Abn... |
OMIM:615873 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Torticollis, Facial hypotonia, Polyhydram... |
OMIM:618371 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch |
OMIM:300712 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Spina bifida occulta, Co... |
OMIM:105650 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... |
ORPHA:79280 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:261236 |
Xeroderma Pigmentosum, Complementation Group A |
|
Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment |
OMIM:278700 |
Prolactinoma |
|
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... |
ORPHA:2965 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Flexion contracture of finger, Camptodactyly of finger, Ca... |
OMIM:256040 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Death in infancy, Polyhydramnios, Large for gestational age, Paten... |
OMIM:300868 |
Larsen Syndrome |
|
Ventricular septal defect, Tracheomalacia, Spinal cord compression, Atrial septal defect, Spina b... |
OMIM:150250 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Oculomotor apraxia |
OMIM:615665 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Small for gestational age, Ventricular septal defect, Nonimmune hydrops fe... |
ORPHA:124 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Optic atrophy, Chylothorax, Atrial septal defect, Pleural effusion |
ORPHA:2526 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Abnormal pulmonary... |
ORPHA:1507 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation |
OMIM:602200 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Sp... |
ORPHA:3380 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia |
OMIM:614615 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Facial palsy, Polyhydramnios, Optic disc coloboma, Atrial septa... |
OMIM:620186 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Oculomotor apraxia |
OMIM:612285 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Vascular dilatation |
OMIM:277320 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Camptodactyly |
OMIM:614815 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Flexion contracture, Upper airway obstruction, Camptodactyly |
OMIM:207410 |
Wilson Disease |
|
Dystonia, Poor motor coordination, Decreased nerve conduction velocity, Tremor, Hypoesthesia, Rig... |
OMIM:277900 |
Arima Syndrome |
|
Ataxia, Brainstem dysplasia, Optic atrophy, Hypoplasia of the brainstem, Molar tooth sign on MRI,... |
OMIM:243910 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Oculomotor apraxia |
OMIM:619111 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Flexion contracture, Xerostomia, Increased body weight, Abdomin... |
ORPHA:398069 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Portal hypertension, Patent ductus arteriosus, Wheezing, Res... |
OMIM:620005 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Aganglionic megacolon, Splenomegaly, P... |
OMIM:270400 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios... |
ORPHA:818 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Obesity |
OMIM:619185 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Galloway-Mowat Syndrome 9 |
|
Choreoathetosis |
OMIM:619603 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Inability to walk, Oculomotor apraxia, Ataxia |
OMIM:617563 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Pulmonary artery stenosis, Camptodactyly, Ankle flexion contracture, Knee flexion contracture |
ORPHA:435938 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Limb hypertonia |
ORPHA:457351 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia |
ORPHA:93947 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... |
ORPHA:1519 |
Ctcf-Related Neurodevelopmental Disorder |
|
Small for gestational age, Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, ... |
ORPHA:363611 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity, Coarctation of aorta, Muscle ... |
ORPHA:1772 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Failure to thrive in infancy, Camptodactyly |
ORPHA:261323 |
Atypical Werner Syndrome |
|
Premature arteriosclerosis, Skeletal muscle atrophy, Prominent superficial veins, Telangiectasia ... |
ORPHA:79474 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios |
OMIM:600373 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Failure to thrive, Death in infancy, Ventricular septal defect, Shoulder flexion... |
OMIM:210710 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis, Pulmonary hypoplasia, Atrial... |
OMIM:263520 |
Early Infantile Epileptic Encephalopathy |
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Hyperactivity, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, Dystonia, Episodic at... |
ORPHA:1934 |
Progeroid Short Stature With Pigmented Nevi |
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Small for gestational age, Aortic valve stenosis, Bicuspid aortic valve, Allergic rhinitis |
OMIM:176690 |
Lymphedema-Distichiasis Syndrome |
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Predominantly lower limb lymphedema, Patent ductus arteriosus, Spinal arachnoid cyst, Varicose ve... |
ORPHA:33001 |
Non-Functioning Pituitary Adenoma |
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Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... |
ORPHA:91349 |
Mosaic Trisomy 20 |
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Abnormal mitral valve morphology, Abnormal spinal cord morphology, Dysplastic tricuspid valve, Ve... |
ORPHA:1724 |
Hamamy Syndrome |
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Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... |
OMIM:611174 |
Xeroderma Pigmentosum, Complementation Group D |
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Choreoathetosis, Spasticity, Ataxia |
OMIM:278730 |
Juvenile Polyposis Syndrome |
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Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hepatic arteriovenous malformation... |
ORPHA:2929 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Abnormal midbrain morphology, Aggressive behavior, Impaired pain sensation, Self-injurious behavi... |
ORPHA:293987 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Pneumothorax, Mitral valve prolap... |
OMIM:601776 |
Senior-Loken Syndrome 8 |
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Vascular dilatation |
OMIM:616307 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
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Mitral regurgitation, Patent foramen ovale |
OMIM:225250 |
Limb Body Wall Complex |
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Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Abnorm... |
ORPHA:2369 |
Hyperlysinemia |
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Pulmonary artery hypoplasia, Failure to thrive, Recurrent pneumonia |
ORPHA:2203 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... |
ORPHA:99413 |
Mosaic Monosomy X |
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Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... |
ORPHA:99226 |
Turner Syndrome |
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Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... |
ORPHA:881 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... |
OMIM:619475 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Transient ischemic attack, Optic nerve hypoplasia, Failure to thrive in... |
ORPHA:500150 |
Rabson-Mendenhall Syndrome |
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Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect |
ORPHA:769 |
Cranioectodermal Dysplasia 2 |
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Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Hydrop... |
OMIM:613610 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Tr... |
OMIM:256520 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Pulmonary hypoplasia, Atrial se... |
OMIM:616546 |
Carney Triad |
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Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Pheochromocytoma, Adrenoc... |
ORPHA:139411 |
Cerebrocostomandibular Syndrome |
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Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosu... |
OMIM:117650 |
Cerebellar-Facial-Dental Syndrome |
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Foot joint contracture, Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the b... |
ORPHA:444072 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Oculomotor apraxia, Abnormal optic disc morphology, Molar tooth sign on MRI, Elongated superior c... |
ORPHA:397715 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
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Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... |
OMIM:115310 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Duplication Of The Pituitary Gland |
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Lower limb spasticity, Abnormality of masseter muscle, Abnormal midbrain morphology, Decreased bo... |
ORPHA:314621 |
Functioning Gonadotropic Adenoma |
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Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Oligoz... |
ORPHA:91348 |
Joubert Syndrome 39 |
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Pain insensitivity, Overweight, Oculomotor apraxia, Joint contracture of the 5th finger, Molar to... |
OMIM:619562 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Polyhydramnios, Large for gestational age, Patent ductus arteriosus, Recurrent sinusitis, Atrial ... |
OMIM:213980 |
Wolfram Syndrome 2 |
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Primary amenorrhea, Optic atrophy, Oligomenorrhea, Optic neuropathy |
OMIM:604928 |
Yellow Fever |
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Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Chromosome 16P13.3 Duplication Syndrome |
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Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... |
OMIM:613458 |
Congenital Alpha2-Antiplasmin Deficiency |
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Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... |
ORPHA:79 |
Joubert Syndrome 30 |
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Molar tooth sign on MRI |
OMIM:617622 |
Ellis-Van Creveld Syndrome |
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Atrial septal defect, Common atrium |
OMIM:225500 |
Simpson-Golabi-Behmel Syndrome |
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Prolonged QT interval, Bundle branch block, Hepatomegaly, Death in infancy, Ventricular septal de... |
ORPHA:373 |
Orofaciodigital Syndrome Xiv |
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Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect |
OMIM:615948 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestation... |
ORPHA:116 |
Al-Gazali-Bakalinova Syndrome |
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Molar tooth sign on MRI |
OMIM:607131 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Death in infancy, Aganglionic megacolon, Recurrent upper respiratory tract infections, Hypertensi... |
OMIM:308205 |
Restrictive Dermopathy 1 |
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Limb joint contracture, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, Stillbirth... |
OMIM:275210 |
Distal Deletion 6P |
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Atrial septal defect |
ORPHA:96125 |
Renpenning Syndrome 1 |
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Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Death in childhood, Campt... |
OMIM:309500 |
Restrictive Dermopathy |
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Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, Patent ductus... |
ORPHA:1662 |
Oculodentodigital Dysplasia |
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Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger |
OMIM:164200 |
Meckel Syndrome, Type 10 |
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Molar tooth sign on MRI, Camptodactyly |
OMIM:614175 |
46,Xy Sex Reversal 1 |
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Hypergonadotropic hypogonadism, Primary amenorrhea, Abnormality of the menstrual cycle |
OMIM:400044 |
Carpenter Syndrome 2 |
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Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Obesity,... |
OMIM:614976 |
Orofaciodigital Syndrome Type 6 |
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Ataxia, Tremor, Gait disturbance, Molar tooth sign on MRI, Failure to thrive |
ORPHA:2754 |
Orofaciodigital Syndrome Type 1 |
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Hypertension, Vascular dilatation |
ORPHA:2750 |
Bent Bone Dysplasia Syndrome 2 |
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Atrial septal defect, Hepatomegaly, Arthrogryposis multiplex congenita |
OMIM:620076 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Tempi Syndrome |
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Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of... |
ORPHA:284227 |
Hydrolethalus Syndrome 2 |
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Molar tooth sign on MRI |
OMIM:614120 |
Cranioectodermal Dysplasia 1 |
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Hepatomegaly, Bicuspid aortic valve, Recurrent respiratory infections |
OMIM:218330 |
Osteogenesis Imperfecta, Type Vii |
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Death in infancy, Absent pulmonary artery, Hypoplastic pulmonary veins |
OMIM:610682 |
Tsh-Secreting Pituitary Adenoma |
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Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... |
ORPHA:91347 |
Multiple Osteochondromas |
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Pseudoaneurysm, Tethered cord, Spinal cord compression, Pneumothorax, Cervical myelopathy, Syring... |
ORPHA:321 |
Sotos Syndrome |
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Hip contracture, Aganglionic megacolon, Ventricular septal defect, Ankle flexion contracture, Sma... |
ORPHA:821 |
Penile Agenesis |
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Ventricular septal defect, Atrophy of the spinal cord, Bilateral lung agenesis, Pulmonary hypopla... |
ORPHA:49 |
Waardenburg Syndrome, Type 2E |
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Vascular dilatation |
OMIM:611584 |
Occipital Horn Syndrome |
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Venous insufficiency, Bruising susceptibility, Vascular dilatation |
ORPHA:198 |
Immunodeficiency 49 |
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Pulmonary artery stenosis |
OMIM:617237 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Abnormality of extrapyramidal... |
ORPHA:100070 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Molar tooth sign on MRI, Hypoplasia of the brainstem, Flexion contracture, Spastic tetraplegia |
OMIM:619306 |
Floating-Harbor Syndrome |
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Small for gestational age, Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesoc... |
ORPHA:2044 |
Currarino Syndrome |
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Tethered cord, Vascular dilatation |
OMIM:176450 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Large for gestational age, Patent ductus arteriosus, Abnormal lung lob... |
ORPHA:672 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Poland Syndrome |
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Dextrocardia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Atrial sep... |
ORPHA:2911 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Joubert Syndrome 5 |
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Ataxia, Aggressive behavior, Oculomotor apraxia, Molar tooth sign on MRI, Thickened superior cere... |
OMIM:610188 |
Townes-Brocks Syndrome |
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Failure to thrive, Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardia... |
ORPHA:857 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia, Coarctation of a... |
OMIM:147920 |
Coffin-Siris Syndrome 1 |
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Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pat... |
OMIM:135900 |
Schinzel-Giedion Midface Retraction Syndrome |
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Atrial septal defect, Macroglossia, Failure to thrive |
OMIM:269150 |
Otopalatodigital Syndrome, Type Ii |
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Elbow contracture, Spina bifida, Respiratory insufficiency, Respiratory failure, Stillbirth, Atri... |
OMIM:304120 |
Wolf-Hirschhorn Syndrome |
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Decreased muscle mass, Tethered cord, Ventricular septal defect, Small for gestational age, Atria... |
OMIM:194190 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Hypertension, Oligohydramnios |
OMIM:300896 |
Townes-Brocks Syndrome 1 |
|
Tethered cord, Ventricular septal defect, Small for gestational age, Atrial septal defect, Tetral... |
OMIM:107480 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Atrial septal defect, Patent ductus arteriosus, Tethered cord, Ventricular septal defect |
OMIM:619522 |
Pallister-Killian Syndrome |
|
Tethered cord, Ventricular septal defect, Edema of the dorsum of feet, Congenital diaphragmatic h... |
OMIM:601803 |
Diphallia |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:227 |
Genitopatellar Syndrome |
|
Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Pulmonary h... |
OMIM:606170 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Patent ductus arteriosus, E... |
OMIM:268300 |
Interstitial Cystitis |
|
Dyspareunia, Abnormality of the menstrual cycle |
ORPHA:37202 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia |
OMIM:241080 |
Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, Bicuspid aortic valve, Optic disc coloboma, Pulmonary hypoplasia, Camptoda... |
OMIM:309800 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Patent ductus arteriosus, Cardiomyopathy, Atrial septal defect, Recurrent u... |
ORPHA:480880 |
Cornelia De Lange Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Increased nuchal translucency, Trunca... |
ORPHA:199 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... |
OMIM:619482 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI, Stillbirth |
OMIM:616300 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain, Aggressive behavior |
OMIM:616202 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Failure to thrive |
OMIM:277170 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Dystonia |
ORPHA:3464 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Oculomotor apraxia |
OMIM:619476 |
Cranioectodermal Dysplasia 3 |
|
Peripheral pulmonary artery stenosis |
OMIM:614099 |
Pauci-Immune Glomerulonephritis |
|
Purpura, Dyspnea, Arteritis, Abnormality of the pulmonary vasculature, Cough, Small vessel vascul... |
ORPHA:93126 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Flexion contracture |
OMIM:619479 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery, Polyhydramnios |
ORPHA:1203 |
Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Aplasia/Hypoplasia of th... |
ORPHA:285 |
Malakoplakia |
|
Orchitis, Abnormality of the menstrual cycle |
ORPHA:556 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Decreased fertility, Testicula... |
ORPHA:90794 |
Wiskott-Aldrich Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:906 |
Orofaciodigital Syndrome Type 14 |
|
Molar tooth sign on MRI |
ORPHA:434179 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon |
OMIM:601374 |