Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... |
ORPHA:2041 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Optic atrophy, Dystonia |
OMIM:271930 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis |
ORPHA:3129 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... |
ORPHA:563 |
Deafness, Autosomal Dominant 9 |
|
Abnormality of the vestibulocochlear nerve |
OMIM:601369 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... |
ORPHA:98811 |
Leukodystrophy, Hypomyelinating, 21 |
|
Ataxia, Optic atrophy, Athetosis, Tetraparesis, Dystonia |
OMIM:619310 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Choreoathetosis, Familial Inverted |
|
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance |
OMIM:118750 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia |
OMIM:614820 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Dyspnea, Effort-indu... |
ORPHA:3282 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia |
ORPHA:31709 |
Mast Syndrome |
|
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Gai... |
OMIM:248900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor function, Dystonia |
OMIM:615159 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... |
ORPHA:860 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus |
OMIM:616230 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Optic atrophy, Myoclonus, Hearing impairment |
OMIM:609056 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Dystonia, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Schimke X-Linked Mental Retardation Syndrome |
|
Choreoathetosis, Spasticity, Hearing impairment |
OMIM:312840 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteri... |
OMIM:612863 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa... |
ORPHA:391417 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoclonus, Loss of ambul... |
OMIM:618241 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi... |
ORPHA:225154 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathet... |
OMIM:617964 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Ataxia, Sensorineural hearing impairment, Athetosis, Dystonia, Spasticity |
OMIM:612951 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Asthma, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Congenital Gerbode Defect |
|
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... |
ORPHA:99095 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:614559 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... |
ORPHA:185 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... |
ORPHA:555874 |
Allan-Herndon-Dudley Syndrome |
|
Ataxia, Clonus, Inability to walk, Babinski sign, Underfolded superior helices, Spastic tetrapleg... |
OMIM:300523 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athet... |
ORPHA:280219 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at... |
ORPHA:2257 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis |
OMIM:118800 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... |
OMIM:617282 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Abnormal pulmonary valve morphology, Pulmonic stenosis |
ORPHA:137634 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... |
ORPHA:99106 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Optic atrophy, Spastic tetraplegia, Athetosis, Dystonia, Spasticity |
OMIM:250950 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Vertigo, Chorea, Hand tremor, Athetosis |
OMIM:615483 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... |
ORPHA:2414 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Respiratory i... |
OMIM:619909 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Choreoathetosis, Involuntary movements, Parkinsonism |
OMIM:616413 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Progressive sensorineural hear... |
OMIM:301020 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Involuntary movements, Babinski sign, Optic atrophy, Clumsiness, Athetosis, Loss of ambul... |
OMIM:271245 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Abnormal pyramidal sign, Athetosis, Dyst... |
OMIM:617951 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dystonia, Loss of ambul... |
OMIM:618088 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Optic atrophy |
OMIM:608688 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Oculocerebral Syndrome With Hypopigmentation |
|
Athetosis, Spasticity |
OMIM:257800 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Chorea, Athetosis, Dystonia |
OMIM:615473 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Prolonged prothrombin time, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Dystonia |
OMIM:300857 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function, Dystonia, Progressive ex... |
ORPHA:382 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal de... |
OMIM:617397 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Restrictive ventilatory defect, Pneumonia, Right ventricular hypert... |
OMIM:253700 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... |
ORPHA:1461 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis, Dystonia |
OMIM:614932 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... |
OMIM:619433 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat... |
OMIM:608804 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... |
OMIM:265380 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy |
OMIM:619121 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Dystonia, Spasticity |
OMIM:618238 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Mitral regurgitation, Pulm... |
OMIM:615355 |
Mungan Syndrome |
|
Abnormality of the autonomic nervous system, Tricuspid regurgitation, Perimembranous ventricular ... |
OMIM:611376 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Secundum atrial septal defect, Congestive heart failure, Patent du... |
OMIM:616866 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... |
OMIM:619705 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent pneumonia, Recurrent upper respiratory tract infections,... |
OMIM:614868 |
Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity, Dystonia |
OMIM:614249 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Optic atrophy, Prolonged somatosensory evoked potentials, Mi... |
OMIM:616648 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Dyston... |
OMIM:618218 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... |
OMIM:253300 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Recurrent lower respiratory tract infections, Perimembranous ventricular septa... |
OMIM:619170 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
3C Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, Op... |
ORPHA:7 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Salla Disease |
|
Inability to walk, Spasticity, Athetosis, Ataxia |
OMIM:604369 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
Cardiofaciocutaneous Syndrome 4 |
|
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Optic nerve hypoplasia, Pulmoni... |
OMIM:615280 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Optic atrophy, Double ou... |
OMIM:618164 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Bilateral sensorineural hearing impairment, Dystonia |
OMIM:619422 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Conductive heari... |
OMIM:618497 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Babinski sign, Choreoathetosis, Limb dystonia, Frequent falls |
OMIM:619054 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Choreoathetosis, Athetosis, Chorea |
OMIM:309541 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis |
OMIM:617065 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, Spasticity |
OMIM:617493 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia |
OMIM:617270 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Choreoathetosis, Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy |
OMIM:617519 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation,... |
ORPHA:1120 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Pa... |
ORPHA:210122 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Restrictive ventilatory defect |
ORPHA:369847 |
Hsd10 Mitochondrial Disease |
|
Sensorineural hearing impairment, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Spasticity |
OMIM:300438 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, C... |
ORPHA:3426 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia... |
OMIM:202650 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent respiratory infections, Cor triatriatum, Prominent superficial veins, Sec... |
OMIM:612541 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis |
OMIM:619735 |
Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Gait disturbance, Dystonia |
OMIM:618141 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, Hypertension, Pul... |
ORPHA:2260 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Situs inversus totalis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Stillb... |
OMIM:615415 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... |
ORPHA:90308 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... |
OMIM:601186 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Right ventricular dilatation, Hepatomegaly, Restrictive ventilatory defect |
ORPHA:369840 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia... |
OMIM:617302 |
Developmental And Epileptic Encephalopathy 44 |
|
Athetosis, Spasticity, Dystonia |
OMIM:617132 |
3-Methylglutaconic Aciduria, Type Ix |
|
Clonus, Optic atrophy, Choreoathetosis, Hypertonia, Spasticity |
OMIM:617698 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Athetosis, Chorea, Spastic tetraplegia, Dystonia |
OMIM:619922 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... |
ORPHA:85447 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, L... |
OMIM:617710 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... |
OMIM:306955 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612562 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... |
OMIM:234810 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:615802 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... |
OMIM:608149 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra... |
ORPHA:13 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... |
OMIM:312080 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections |
OMIM:620194 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextroca... |
OMIM:618280 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cranial nerve morphology |
ORPHA:228399 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... |
OMIM:604391 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Complete atrioventricular canal defect, Patent ... |
OMIM:190685 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Legius Syndrome |
|
Supravalvar pulmonary stenosis |
OMIM:611431 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Pulmo... |
OMIM:618282 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis |
ORPHA:139466 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Hyperten... |
OMIM:613870 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... |
OMIM:265450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia |
ORPHA:289916 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Low-set ears, Dystonia, Spast... |
OMIM:618451 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Stroke |
OMIM:182410 |
Adams-Oliver Syndrome 5 |
|
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... |
OMIM:616028 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Optic atrophy, Tetraplegia, Choreoathetosis, Dystonia, Spasticity |
OMIM:616034 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension, Recurrent respiratory infections |
OMIM:619758 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic atrophy, Abnormal pyr... |
OMIM:618249 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Right ventricular failure, Pericardial effusion, Dyspnea, Diffuse alveolar hemor... |
ORPHA:199241 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coarctation of aorta,... |
OMIM:616564 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Abnormal left ventricular functi... |
OMIM:301056 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Respiratory insufficiency, Transposit... |
OMIM:253800 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:619317 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Atrial septal defect, Pulmonary arterial hypertension... |
OMIM:300887 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Loss of ability to walk in early childhood, Inability to walk, Sensorineural hearing impairment, ... |
OMIM:612073 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreo... |
OMIM:619653 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia |
OMIM:615905 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Pain insensitivity, Optic atrophy, Abnormal pyramidal sign, Athetosis, Oculomo... |
OMIM:614388 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t... |
ORPHA:244 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Hereditary Methemoglobinemia |
|
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity |
ORPHA:621 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p... |
ORPHA:70591 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aortic val... |
OMIM:609029 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis, Lower lim... |
ORPHA:319514 |
Folate Malabsorption, Hereditary |
|
Athetosis, Ataxia |
OMIM:229050 |
Sulfite Oxidase Deficiency, Isolated |
|
Generalized dystonia, Ataxia, Choreoathetosis, Hypertonia, Hemiplegia, Macrotia |
OMIM:272300 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Transposition of the great ar... |
OMIM:201000 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ataxia, Chorea, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... |
OMIM:616276 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, He... |
OMIM:602782 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Apnea, Optic nerve hypoplasia |
OMIM:609069 |
Meacham Syndrome |
|
Congenital alveolar dysplasia, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Pa... |
OMIM:608978 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Spastic tetraplegia, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Free Sialic Acid Storage Disease |
|
Ataxia, Abnormal pyramidal sign, Athetosis, Gait disturbance, Oculomotor apraxia, Spasticity |
ORPHA:834 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Secundum atrial septal defect, Neonatal asphyxia, Splenomegaly, Congestive heart fa... |
OMIM:608779 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Abnormality of extrap... |
OMIM:615673 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Gait disturbance, Dystonia, Spasticity, Hearing impairment |
ORPHA:702 |
Developmental And Epileptic Encephalopathy 74 |
|
Choreoathetosis |
OMIM:618396 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Foxg1 Syndrome |
|
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walking, Dyston... |
ORPHA:561854 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Ventricular septal defect, Optic disc pallor |
OMIM:613730 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia |
OMIM:245348 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Respiratory insufficiency |
OMIM:615731 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Pulmonic stenosis, Facial telangiectasia |
OMIM:620141 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Dilation of Virchow-Robin spaces |
OMIM:619951 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Optic atrophy, Cardiomyopathy, Stroke, Atrial ... |
OMIM:249270 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Frequent falls, Ataxia, Dystonia |
OMIM:618416 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis |
ORPHA:1131 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct... |
OMIM:600001 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cong... |
OMIM:601808 |
Snijders Blok-Fisher Syndrome |
|
Cupped ear, Opisthotonus, Choreoathetosis, Protruding ear, Spasticity |
OMIM:618604 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Hypertrophic ca... |
OMIM:614702 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, P... |
OMIM:617988 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
X-Linked Intellectual Disability, Schimke Type |
|
Choreoathetosis, Spasticity, Hearing impairment |
ORPHA:85285 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Optic atr... |
ORPHA:85202 |
Ogden Syndrome |
|
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardi... |
OMIM:300855 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aortic val... |
ORPHA:96170 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spastic dysarthria, ... |
ORPHA:95433 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... |
ORPHA:500 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity |
OMIM:612233 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertroph... |
OMIM:610733 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arterio... |
OMIM:617506 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis |
ORPHA:75496 |
Developmental And Epileptic Encephalopathy 1 |
|
Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Dystonia, Erratic myo... |
OMIM:308350 |
Woods Syndrome |
|
Optic atrophy, Ventricular septal defect |
OMIM:615236 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... |
OMIM:115197 |
Alg9-Cdg |
|
Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Asthma, A... |
ORPHA:79328 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Limb hypertonia, Dystonia, Hearing impairment |
OMIM:618247 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Hyperk... |
ORPHA:391428 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Mit... |
OMIM:612561 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Apneic episodes in infancy, Atrial septa... |
OMIM:619967 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:616268 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Takenouchi-Kosaki Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Optic atrophy, Pulmonic stenosis |
OMIM:616737 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... |
ORPHA:52368 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect |
OMIM:614876 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... |
ORPHA:980 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Congenital Myopathy 8 |
|
Congestive heart failure, Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... |
ORPHA:2255 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Pyruvate Carboxylase Deficiency |
|
Athetosis, Clonus |
OMIM:266150 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Optic atrophy, Dystonia |
ORPHA:79312 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Pulmonic stenosis |
OMIM:617600 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Optic atrophy, Anomalous pulmo... |
OMIM:616368 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology |
ORPHA:2412 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia |
OMIM:312170 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Patent ductus arteriosus, Coarctation of ao... |
ORPHA:3338 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Respiratory insufficiency |
ORPHA:1909 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart mo... |
ORPHA:2847 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve |
OMIM:300958 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Spasticity |
OMIM:308950 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Microhydranencephaly |
|
Athetosis, Macrotia, Spastic tetraplegia |
OMIM:605013 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Optic atrophy, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fasc... |
OMIM:614969 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... |
ORPHA:3097 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle morphology, He... |
ORPHA:284979 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... |
OMIM:106700 |
Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... |
ORPHA:363705 |
Episodic Ataxia Type 1 |
|
Vertigo, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait |
ORPHA:37612 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Aortic regurgitation |
OMIM:620072 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Cap Myopathy |
|
Reduced systolic function, Central hypoventilation, Facial palsy, Mitral valve prolapse, Aortic r... |
ORPHA:171881 |
Monosomy 13Q34 |
|
Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Common atrium |
ORPHA:96168 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis |
OMIM:212780 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pulmonic stenosis |
OMIM:616977 |
Allan-Herndon-Dudley Syndrome |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Choreoathetosis, Ankle clonu... |
ORPHA:59 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma... |
ORPHA:261337 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Choreoathetosis, Inability to walk, Hypertonia, Rigidity |
OMIM:620023 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
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 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Respiratory insufficiency |
ORPHA:1759 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Abnormal cranial nerve morphology |
ORPHA:2345 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration |
OMIM:618330 |
Birk-Landau-Perez Syndrome |
|
Optic atrophy, Limb ataxia, Choreoathetosis, Difficulty walking, Dystonia, Oculomotor apraxia, Pr... |
OMIM:617595 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect |
ORPHA:1439 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Decreased nerve conduction ve... |
ORPHA:477817 |
Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma |
OMIM:241310 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Spastic diplegia, Choreoathetosis, Large earlobe, Spasticity, Macrotia |
ORPHA:2715 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... |
ORPHA:401935 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Inability to walk, Slurred speech, Athetosis, Dystonia, Spasticity, Hearing impairment |
ORPHA:357058 |
Pitt-Hopkins-Like Syndrome 2 |
|
Pulmonic stenosis, Hyperventilation |
OMIM:614325 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
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 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy, Brui... |
OMIM:619745 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Chronic bronchitis, Si... |
OMIM:616037 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Optic disc pallor, Tricuspid regurgitation, Left ventricular systolic dysfunction, ... |
OMIM:619167 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral val... |
ORPHA:371428 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the eleventh cranial nerve, Cranial nerve compression, Abnormality of the vestibul... |
ORPHA:268882 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... |
OMIM:613355 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616277 |
Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke, Giant ... |
ORPHA:268943 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Filippi Syndrome |
|
Optic atrophy, Ventricular septal defect |
OMIM:272440 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
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 |
Mitral Valve Prolapse 1 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:157700 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Optic atrophy, Pulmonic stenosis, Atrial septal defect, Hypertro... |
ORPHA:1340 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon... |
OMIM:619534 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... |
OMIM:614185 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Tarp Syndrome |
|
Posteriorly rotated ears, Optic atrophy, Prominent antihelix, Athetosis, Microtia, Low-set ears, ... |
OMIM:311900 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... |
OMIM:610443 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Babinski sign, Choreoathetosis, Lower limb hypertonia, Upper limb hypertonia... |
ORPHA:2524 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, S... |
ORPHA:75249 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal optic disc morphology, Truncus arte... |
OMIM:617516 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:300867 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Patent ... |
OMIM:214800 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Respiratory insufficiency, Abnormal aortic morphology, Tetralogy of Fa... |
ORPHA:1166 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Stroke, Arrhythmi... |
ORPHA:230839 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Varicose veins, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Vascular dilatation |
OMIM:618343 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Vertigo, Chorea, Athetosis, Limb dys... |
ORPHA:25 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Brachial plexus neuropathy, Reduced left v... |
ORPHA:268 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Optic nerve dysplasia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardio... |
OMIM:115150 |
Niemann-Pick Disease, Type A |
|
Inability to walk, Athetosis, Spasticity, Rigidity |
OMIM:257200 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, Nodular pattern on pu... |
ORPHA:99931 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... |
ORPHA:494424 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Legius Syndrome |
|
Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Mitral valve prolapse, Vestibular s... |
ORPHA:137605 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia |
OMIM:612164 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... |
OMIM:618775 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Ventricular septal defect |
OMIM:616816 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Optic atrophy, Slurred speech, Leg dystonia, Choreoathetosis, T... |
ORPHA:157850 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse |
OMIM:211960 |
Congenital Heart Block |
|
First degree atrioventricular block, Crackles, Pericardial effusion, Gallop rhythm, Patent ductus... |
ORPHA:60041 |
Atelis Syndrome 2 |
|
Dyspnea, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic ... |
OMIM:620185 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Hepatomegaly, Prolonged QT interval, Elevated jugular venous pressure, Pulmona... |
ORPHA:57777 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Optic atrophy, Atrial septal defect, Patent foramen ovale, Right ventr... |
OMIM:614261 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Mitral... |
ORPHA:287 |
Ritscher-Schinzel Syndrome 4 |
|
Athetosis, Chorea, Macrotia, Ataxia |
OMIM:619435 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Low-set ears, Limb dystonia, Difficult... |
ORPHA:572798 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Transaldolase Deficiency |
|
Abnormal respiratory system physiology, Telangiectasia, Biventricular hypertrophy, Hepatosplenome... |
ORPHA:101028 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis |
OMIM:618857 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Athetosis, Macrotia, Low-set ears |
OMIM:219150 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
Dysosteosclerosis |
|
Optic atrophy, Ventricular septal defect, Abnormal cranial nerve morphology |
ORPHA:1782 |
Central Core Disease |
|
Respiratory insufficiency due to muscle weakness, Neonatal respiratory distress, Mitral valve pro... |
ORPHA:597 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis |
OMIM:619148 |
Costello Syndrome |
|
Ventricular septal defect, Tracheomalacia, Pneumothorax, Respiratory insufficiency, Mitral valve ... |
OMIM:218040 |
Marfan Syndrome |
|
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:154700 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... |
ORPHA:555877 |
Leigh Syndrome |
|
Ataxia, Involuntary movements, Chorea, Sensorineural hearing impairment, Optic atrophy, Spastic d... |
ORPHA:506 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... |
OMIM:615356 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse |
ORPHA:2233 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
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 |
Brittle Cornea Syndrome |
|
Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Posteriorly rotated ears, Sensorineural hearing impairment, Athetosis, Hea... |
OMIM:239300 |
Classic Multiminicore Myopathy |
|
Right ventricular failure, Intermittent episodes of respiratory insufficiency due to muscle weakn... |
ORPHA:324604 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse |
OMIM:225320 |
Melnick-Needles Syndrome |
|
Recurrent respiratory infections, Mitral valve prolapse, Stillbirth, Tricuspid valve prolapse, Pu... |
OMIM:309350 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia |
OMIM:247610 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atrial septal de... |
ORPHA:290 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse |
ORPHA:2183 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic roo... |
OMIM:616652 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect... |
OMIM:607872 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Pettigrew Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Gait ataxia, Choreoathetosis, Spasticity, High-f... |
OMIM:304340 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis |
OMIM:618223 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... |
OMIM:612098 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal heart valve morphology, Optic nerve hypoplasia, Optic disc colobo... |
ORPHA:536471 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... |
OMIM:270100 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Bruising susceptibility, Petechiae, Mitral valve prolapse |
OMIM:225310 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Brea... |
ORPHA:438213 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:615583 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis |
OMIM:618624 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Mitral regurgitation,... |
OMIM:615879 |
16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... |
OMIM:300280 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Congestive heart failure, Cardiomegaly |
OMIM:269920 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve |
OMIM:608980 |
Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Recurrent respiratory infections, Ventricular septal defect, Atrial septal def... |
OMIM:618950 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:610978 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... |
OMIM:126320 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Optic atrophy... |
ORPHA:457193 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Truncus ar... |
OMIM:616589 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati... |
OMIM:608328 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Optic atrophy, Mitral valve prola... |
OMIM:258450 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... |
OMIM:253250 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mitral regurgitation, Tricuspid regurgitation, Tricuspid valve prolapse |
ORPHA:1101 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Respiratory arrest |
OMIM:600649 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Apneic episodes in infancy, Optic atrophy, Ventricular septal defect, Recurrent upper respiratory... |
ORPHA:3078 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... |
OMIM:234200 |
Cerebrofacioarticular Syndrome |
|
Tracheomalacia, Pulmonic stenosis, Abnormal heart morphology |
ORPHA:314679 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Absent brainstem auditory responses, Hypoventilation, Apnea, ... |
ORPHA:79330 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchie... |
OMIM:620233 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitra... |
OMIM:212140 |
Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma |
OMIM:162260 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231183 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Pneumothorax, Mitral valve prolapse, Mitral regurg... |
OMIM:601776 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Warsaw Breakage Syndrome |
|
Optic disc coloboma, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Cerebral palsy, Tinnitus, Spastic paraplegia |
ORPHA:369929 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... |
OMIM:300707 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Sinusitis, Mitral valve prolapse |
ORPHA:908 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coarctat... |
OMIM:620210 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... |
OMIM:619825 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Protruding ear, Athetosis, Apraxia, Spasticity |
OMIM:613454 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Hypertension, Pulmona... |
OMIM:245150 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosu... |
OMIM:614576 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal bleeding, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Mitral valve ... |
ORPHA:1900 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Patent ductu... |
OMIM:618316 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Abnormal autonomic nervous system physiology, ... |
OMIM:105210 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Watson Syndrome |
|
Pulmonic stenosis |
OMIM:193520 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Ventricular septal defect |
OMIM:617201 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve pr... |
OMIM:618371 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect |
ORPHA:52055 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Tracheomalaci... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Tracheomalaci... |
ORPHA:363958 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Mitral valve prol... |
ORPHA:2556 |
Camurati-Engelmann Disease, Type 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:606631 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia |
ORPHA:431361 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart mu... |
ORPHA:2038 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Sensorineural hearing impairment, Babinski sign, Optic atrophy, Scissor gait, Choreoathet... |
OMIM:278800 |
Frontometaphyseal Dysplasia 2 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Stridor, Pulmonic stenosis, Patent foramen ovale |
OMIM:617137 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Optic atrophy, Ventricular septal defect |
OMIM:220500 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot... |
OMIM:256550 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:607721 |
Tbck-Related Intellectual Disability Syndrome |
|
Respiratory insufficiency, Asthma, Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
Leopard Syndrome 1 |
|
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... |
OMIM:151100 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Arterial tortuosity, Patent ductu... |
ORPHA:284984 |
Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonic stenosis, T... |
OMIM:222470 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:257300 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Inability to walk, Gait ataxia, Opisthotonus, Choreoathetosis, Limb hypertonia, Hearing i... |
OMIM:619580 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Hepatosplenomegaly |
OMIM:618955 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... |
ORPHA:79139 |
Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... |
ORPHA:230851 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... |
ORPHA:97360 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... |
OMIM:208000 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... |
OMIM:601927 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of the m... |
OMIM:268800 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Optic atrophy, Atria... |
ORPHA:3378 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... |
ORPHA:445038 |
Cohen Syndrome |
|
Optic atrophy, Mitral valve prolapse |
OMIM:216550 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Bicuspid pulmonary valve, Optic atrophy, Abnormal pulmonary vein morpho... |
ORPHA:709 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse |
OMIM:173900 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Recurrent pneumonia, Re... |
OMIM:300472 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ataxia, Sensorineural hearing impairment, Abnormal pyramidal sign, Spastic tetraplegia, Athetosis... |
ORPHA:2719 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... |
ORPHA:2131 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Spast... |
OMIM:616271 |
Galloway-Mowat Syndrome 9 |
|
Choreoathetosis, Macrotia, Low-set ears |
OMIM:619603 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
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 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Tachypnea, Hypertension, Pulmonary arterial hypertension, Vascular dilatation |
OMIM:613320 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Diamond-Blackfan Anemia 20 |
|
Total anomalous pulmonary venous return |
OMIM:618313 |
Filippi Syndrome |
|
Optic atrophy, Ventricular septal defect |
ORPHA:3255 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Optic nerve hypoplasia, A... |
OMIM:620025 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypotension, Atrial septal defect, Patent fo... |
OMIM:615668 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Apneic episodes in infancy |
OMIM:301058 |
Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Asthma, Hepatosp... |
OMIM:606003 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... |
OMIM:615273 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Progressive choreoathetosis, Par... |
OMIM:200150 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Optic nerve hypoplasia |
OMIM:618156 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Ca... |
ORPHA:353281 |
Superficial Siderosis |
|
Abnormality of the brachial nerve plexus, Abnormality of the vestibulocochlear nerve |
ORPHA:247245 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory insufficien... |
ORPHA:1842 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Spasticity, Cerebral palsy, Spastic tetraplegia |
OMIM:615474 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, ... |
ORPHA:580 |
Xeroderma Pigmentosum, Complementation Group A |
|
Ataxia, Sensorineural hearing impairment, Distal sensory impairment, Choreoathetosis, Spasticity |
OMIM:278700 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Optic atrophy, Atrial septa... |
OMIM:619383 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Torticollis, Inability to walk by childhood/adolescence, Choreoathetosis, Ath... |
OMIM:620224 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:352490 |
Glutaric Acidemia I |
|
Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia |
OMIM:231670 |
Brain-Lung-Thyroid Syndrome |
|
Dystonia, Ataxia, Incoordination, Involuntary movements, Sensorineural hearing impairment, Chorea... |
ORPHA:209905 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... |
ORPHA:308552 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Restrictive ventilatory defect, Pulmonary lymphangiectasia, Mitral valve prolapse |
OMIM:247410 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Optic atrophy, Abnormal tricuspid valve morphology, Abnormal ao... |
ORPHA:192 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent ear helix, Athetosis, Posteriorly rotated ears |
OMIM:614438 |
Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper respira... |
OMIM:619769 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension |
OMIM:618886 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Sensorineural hearing impairment, Choreoathetosis, Dystonia, Conductive hearing i... |
ORPHA:261197 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Cardiospondylocarpofacial Syndrome |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:3238 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency,... |
OMIM:617021 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Atrial septal defect, Pulmonary arteri... |
OMIM:614857 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Optic atrophy, Shor... |
OMIM:614947 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Inability to walk, Chorea, Optic atrophy, Athetosis, Hyperkinetic movements, M... |
ORPHA:404454 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, ... |
ORPHA:217085 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... |
OMIM:300166 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Ascending tubula... |
OMIM:614816 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Mitral regurgitation, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Pneumonia, Tracheomalacia, Patent ductus ar... |
OMIM:619488 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Chy... |
OMIM:163950 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral re... |
ORPHA:363700 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Wolff-Parkinson-White syndrome |
ORPHA:261295 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis |
ORPHA:529962 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Optic disc colo... |
ORPHA:1790 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, ... |
ORPHA:217093 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... |
OMIM:618494 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Episodic tachypnea |
OMIM:615160 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Optic atrophy, Ventricular septal defect |
OMIM:614424 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Sensorineural hearing impairment, Optic nerve dysplasia, Optic atrophy, Athetosis, Abnormal helix... |
OMIM:614866 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosi... |
ORPHA:2712 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Patent ductus... |
OMIM:617303 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea... |
OMIM:614921 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ... |
ORPHA:2519 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Neonatal respiratory distress, Tricuspid regurgitation, Ventricular septal defect, Patent ductus ... |
OMIM:618870 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Optic nerve hypoplasia |
OMIM:609053 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Pleuritis, Mitral regurgitation, Mitral valve prolapse |
ORPHA:2848 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleur... |
OMIM:616897 |
Fg Syndrome Type 1 |
|
Optic nerve hypoplasia, Coarctation of aorta, Mitral valve prolapse, Atrial septal defect, Pulmon... |
ORPHA:93932 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hy... |
ORPHA:2970 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... |
ORPHA:505248 |
Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly |
OMIM:266500 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Exertional dyspnea, Arrhythmia, Cardiomegaly |
ORPHA:42 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly, Recurrent pn... |
OMIM:616651 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Abnormal pinna morphology, Ataxia, Protruding ear, Choreoathetosis, Dystonia |
OMIM:615471 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Tachypnea, Reduced left ventricular ejection fr... |
OMIM:201475 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Patent ductus arteriosus, Respiratory insufficiency, Aplasia/Hypoplasia of ... |
ORPHA:93274 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Respiratory insufficiency |
ORPHA:2655 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale, Respiratory distress |
ORPHA:89844 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc... |
ORPHA:275766 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... |
OMIM:232300 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Respiratory insufficiency, Anomalous pulmonary venous return |
ORPHA:2311 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Bruising susceptibility, Quadricuspid aortic valve, Mitral valve prolapse |
OMIM:606408 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent ductus arterios... |
ORPHA:354 |
Frank-Ter Haar Syndrome |
|
Mitral valve prolapse |
ORPHA:137834 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Athetosis, Spasticity, Hypertonia, Spastic tetraplegia |
ORPHA:79351 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Reduced forced vital capacity, Mitral stenosis, Respiratory insufficiency due to muscle weakness,... |
OMIM:619461 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Aortic regurgitation |
OMIM:615476 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Hepatosplenomegaly, Atrial... |
OMIM:267010 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Prominent scalp veins, Recurrent respiratory infections, Pneumonia |
OMIM:264090 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup... |
ORPHA:97214 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis |
OMIM:231050 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Optic atrophy, Ventricular septal defect |
OMIM:234050 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Xeroderma Pigmentosum, Complementation Group D |
|
Choreoathetosis, Sensorineural hearing impairment, Ataxia, Spasticity |
OMIM:278730 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Prolonged QT interval, Tachycardia, Ventricular septal defect... |
ORPHA:26793 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Mitral valve prolapse, Aortic root aneurysm, Recurrent sinusitis, Recurrent lower respiratory tra... |
OMIM:130000 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Ca... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Ca... |
ORPHA:353277 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Rigid... |
ORPHA:217253 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Hypoplastic left hear... |
ORPHA:2473 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm |
OMIM:301039 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Patent ductus arteriosus, Muscular ventricular septal defect, Abnormal heart... |
ORPHA:363444 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... |
OMIM:264480 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
De Barsy Syndrome |
|
Large earlobe, Athetosis, Progressive cerebellar ataxia, Bilateral sensorineural hearing impairme... |
ORPHA:2962 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Aganglionic megacolon, Peripheral pulmonary artery stenosis |
OMIM:614749 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Posteriorly rotated ears, Tremor, Cupped ear, Spasticity, Large fleshy ears, Choreoathetosis, Low... |
OMIM:614080 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Aortic valve stenosis |
OMIM:243310 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Patent ductus arteriosus, Optic atrophy, Total anomalous pulmonary venous return, Abnormal heart ... |
ORPHA:487796 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a... |
ORPHA:2008 |
Gabriele-De Vries Syndrome |
|
Ebstein anomaly of the tricuspid valve, Patent foramen ovale |
ORPHA:506358 |
Diabetic Embryopathy |
|
Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ... |
ORPHA:1926 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... |
ORPHA:904 |
Abruzzo-Erickson Syndrome |
|
Atrial septal defect |
ORPHA:921 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Pleural effusion, As... |
ORPHA:453499 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
Lesch-Nyhan Syndrome |
|
Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spasticity |
OMIM:300322 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Optic neuropathy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Optic ... |
OMIM:610505 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Optic atrophy, Pulmonary embolism |
ORPHA:99015 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect |
ORPHA:1035 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... |
OMIM:164280 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Congestive heart failure |
ORPHA:500533 |
Desmosterolosis |
|
Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:35107 |
Noonan Syndrome 13 |
|
Atrial septal defect, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse |
OMIM:619087 |
Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Tracheomalacia |
ORPHA:896 |
Joubert Syndrome 3 |
|
Atrial septal defect, Episodic tachypnea, Neonatal breathing dysregulation, Central apnea |
OMIM:608629 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Spontaneous pneumothorax, Arterial tortuosity, Desce... |
OMIM:610168 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Asthma, Pulmonary artery hypoplasia,... |
OMIM:616777 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Patent ductus arteriosus, Abnormal autonomic nervous... |
ORPHA:1051 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Ventricular septal defect, Recurrent aspiration pneumonia |
ORPHA:79243 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Secundum atrial septal defect, Subarterial ventricular septal defect, Recur... |
ORPHA:99646 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Optic atrophy, Right atrial enlargement |
OMIM:615219 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Central hypoventilation, Left superior vena cava draining to coronary sinus |
OMIM:611961 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Carotid artery stenosis, Mitral valve prolapse, Aortic root aneurysm... |
OMIM:618000 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... |
OMIM:194050 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Zellweger Syndrome |
|
Hepatomegaly, Optic atrophy, Ventricular septal defect, Respiratory insufficiency |
ORPHA:912 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Bruising susceptibility, Arterial rupture |
OMIM:619115 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
Cohen Syndrome |
|
Optic atrophy, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Stroke, Myocardial infarction, Mitral valve prolapse |
OMIM:236200 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Respiratory failure |
OMIM:620327 |
Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse |
OMIM:229200 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... |
OMIM:620070 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... |
OMIM:612582 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tremor, Large fleshy ears, Athetosis, Microtia, Prominent tragus, Overfolded helix, Prominent sup... |
ORPHA:280633 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Hepatomegaly, Re... |
ORPHA:365 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Abnormal lung morphology... |
ORPHA:97685 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Congenital Contractural Arachnodactyly |
|
Aortic aneurysm, Mitral valve prolapse |
ORPHA:115 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmon... |
OMIM:608013 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery hypoplasia, Ventricular septal d... |
OMIM:300963 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Aganglionic megacolon, Ventricular septal defect, Optic disc co... |
OMIM:174300 |
22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septal defect, Atelectasis, Paten... |
ORPHA:567 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect, Optic nerve hypoplasia |
ORPHA:261250 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Splenomegaly, Patent duct... |
OMIM:312870 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right v... |
OMIM:208085 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:612938 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Familial Multiple Lipomatosis |
|
Abnormal tricuspid valve morphology |
ORPHA:199276 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
White Forelock With Malformations |
|
Atrial septal defect |
ORPHA:2475 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosu... |
OMIM:301043 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse |
ORPHA:251066 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dystonia, Athetoid cerebr... |
ORPHA:522077 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly |
OMIM:617022 |
Hardikar Syndrome |
|
Hepatomegaly, Ventricular septal defect, Portal hypertension, Hematemesis, Splenomegaly, Patent d... |
OMIM:301068 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
ORPHA:2143 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Patent ductus arteriosus, Double inlet left ventricle, Atrial septal defect, T... |
OMIM:619869 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Respiratory insufficiency |
ORPHA:1488 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Cardiomy... |
ORPHA:465508 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Facial palsy, Optic nerve... |
ORPHA:508498 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... |
OMIM:619268 |
King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Hepatomegaly, Ventricular septal defect |
OMIM:615630 |
Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Mitral regurgitation, Neonatal death, Atrial septal defect, Pulmonary a... |
OMIM:620244 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Neonatal respiratory distress, Apnea, Cardiomegaly, Antenatal intracerebral hemorrh... |
OMIM:608836 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia, Ventricular septal defect |
ORPHA:276432 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:617159 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... |
OMIM:245600 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve |
OMIM:619720 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ventricular septal defect, Ascending aorta hypoplasia, Neonatal asphyxia, P... |
ORPHA:141127 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Respiratory... |
ORPHA:536467 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Sple... |
ORPHA:581 |
Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... |
ORPHA:261311 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis, Asthma, Heart murmur, Palpitations, Hypotension |
ORPHA:100079 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal v... |
ORPHA:163956 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Patent foramen ovale |
OMIM:613457 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse |
ORPHA:1563 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia |
ORPHA:1908 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Coarctation of aorta, P... |
OMIM:618454 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Dyspnea, Patent ductus arteriosus, Pulmonary arterial hypertension |
ORPHA:261279 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... |
OMIM:617300 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, At... |
OMIM:105650 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis |
ORPHA:459061 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm |
ORPHA:96201 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Apnea, Cardiomegaly, Optic atrophy, Abnormal cardiac septum mor... |
ORPHA:97297 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Patent ductus arteriosus, Respiratory insufficiency, Aplasia/Hypoplasia of ... |
ORPHA:1860 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Splenomegal... |
ORPHA:84064 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Pulm... |
ORPHA:261494 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect, Aganglionic megacolon |
OMIM:614207 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
Hallermann-Streiff Syndrome |
|
Choreoathetosis, Optic disc coloboma, Low-set ears |
OMIM:234100 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Neonatal respiratory distress, Ventricular septal defect, Coarctation of aorta... |
OMIM:244450 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Respiratory failure, Impaired myocardial contrac... |
ORPHA:158687 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Portal hypertension, Situs inversus totalis, Splenomegaly, Patent ductus arteriosus... |
OMIM:208540 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Papilledema, Asthma |
OMIM:619471 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh... |
ORPHA:254346 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Sensorineural hearing impairment, Unsteady gait, Choreoathetosis, Hypertonia, Hyperkinetic moveme... |
ORPHA:17 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Su... |
OMIM:614114 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle |
OMIM:614886 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:244300 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... |
OMIM:616449 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung morphology, Abnormal heart mor... |
ORPHA:1708 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
Desmosterolosis |
|
Patent ductus arteriosus, Total anomalous pulmonary venous return |
OMIM:602398 |
Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... |
ORPHA:96167 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypoxemia, Hypertension, Stroke |
OMIM:603903 |
Osteogenesis Imperfecta, Type I |
|
Bruising susceptibility, Aortic aneurysm, Mitral valve prolapse |
OMIM:166200 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Congenital malformation of the left heart, Optic atrophy, Pulmonic stenosi... |
ORPHA:3455 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia |
OMIM:619314 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Neonatal respiratory distress, Optic disc pallor, Ventricular septal defect, Patent... |
OMIM:214100 |
Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal ... |
ORPHA:52 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... |
ORPHA:1507 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
White-Sutton Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Optic nerve hypoplasia |
OMIM:616364 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... |
ORPHA:1435 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Aganglioni... |
ORPHA:261552 |
Fanconi Anemia, Complementation Group B |
|
Abnormal lung lobation, Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta |
OMIM:300514 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Mitral valve prolapse |
OMIM:104350 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces |
OMIM:617190 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Pulmonary hypoplasi... |
ORPHA:314588 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Aortic aneurysm |
OMIM:130720 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... |
OMIM:123700 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... |
ORPHA:252164 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... |
ORPHA:96191 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Pagod Syndrome |
|
Sudden cardiac death, Situs inversus totalis, Optic atrophy, Pulmonary artery hypoplasia, Abnorma... |
ORPHA:991 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... |
OMIM:620024 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Grange Syndrome |
|
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... |
OMIM:602531 |
Autosomal Dominant Polycystic Kidney Disease |
|
Mitral valve prolapse, Hypertension, Aortic root aneurysm, Dilatation of the cerebral artery, Abn... |
ORPHA:730 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Patent ductus arteriosus, Aor... |
ORPHA:464311 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Patent ductus arteriosu... |
ORPHA:99776 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Aortic root aneurysm, Bruising susceptibility, Mitral valve prolapse |
OMIM:616914 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasi... |
OMIM:618278 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Respiratory distress |
OMIM:610536 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypoplasia, Atrial septal d... |
ORPHA:1335 |
Mgat2-Cdg |
|
Respiratory distress, Abnormal bleeding, Ventricular septal defect, Patent ductus arteriosus, Abn... |
ORPHA:79329 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Arrhythmia, Tet... |
OMIM:153400 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Aortic regurgitation |
OMIM:609460 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... |
OMIM:611812 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Asthma, Patent ductus arteriosus after bi... |
ORPHA:251061 |
Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Facial palsy, Atrial septal defect, Vascular di... |
OMIM:607323 |
Tarp Syndrome |
|
Apnea, Optic atrophy, Pulmonary hypoplasia, Atrial septal defect, Tetralogy of Fallot, Persistent... |
ORPHA:2886 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... |
OMIM:611962 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Coarctation of aorta, Aortic root aneurysm, A... |
OMIM:617602 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Optic atrophy, Subdural hemorrh... |
ORPHA:79282 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
Distal Deletion 10Q |
|
Atrial septal defect, Facial diplegia, Patent ductus arteriosus |
ORPHA:96148 |
Fucosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Cherry red spot of th... |
OMIM:230000 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal ... |
ORPHA:228308 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Abnormal optic disc morpholo... |
ORPHA:96121 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Patent ductus arteriosus, Ventricular septal defect, Optic nerve hypoplasia |
OMIM:206900 |
Stickler Syndrome, Type I |
|
Mitral valve prolapse |
OMIM:108300 |
Woodhouse-Sakati Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Abnormality of extrapyramidal ... |
OMIM:241080 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... |
ORPHA:85438 |
Trisomy 1Q |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261344 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Respiratory insufficiency, Coarctation of aorta |
OMIM:617260 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... |
ORPHA:2637 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
Developmental And Epileptic Encephalopathy 100 |
|
Choreoathetosis, Chorea, Myoclonus, Gait ataxia |
OMIM:619777 |
Sotos Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Muscular ventricular s... |
OMIM:117550 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Aganglionic megacolon, Pulmonary arte... |
ORPHA:261537 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Hepatosplenomegaly |
ORPHA:397709 |
Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morpholo... |
ORPHA:79076 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Mitral valve prolapse |
OMIM:618874 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... |
ORPHA:536532 |
Al Kaissi Syndrome |
|
Atrial septal defect |
OMIM:617694 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
Pseudohypoparathyroidism Type 1A |
|
Involuntary movements, Sensorineural hearing impairment, Choreoathetosis, Paresthesia, Myoclonic ... |
ORPHA:79443 |
Jacobsen Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Optic atrophy, Ventricular septal defect |
OMIM:147791 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Apnea, Patent ductus arteriosus, Recurrent upp... |
OMIM:602535 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Tachycardia, Ventricular septal defect, Apnea, Retinal hemorrhage,... |
OMIM:614653 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Patent ductus arteriosus, Aor... |
ORPHA:464306 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Neonatal asphyxia, Heart murmur |
ORPHA:2728 |
Peters-Plus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:261540 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Aganglionic megacolon, Pulmonary artery sling, Patent ductus arteriosus, A... |
ORPHA:2152 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Abnormal h... |
ORPHA:2745 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Hepatomegaly, Patent ductus arteriosus, Dextrocardia |
OMIM:277380 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se... |
OMIM:300998 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect |
ORPHA:217346 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Asthma, Patent ductus arteriosus, Atrial septal defect, Bruising susceptibility |
OMIM:618162 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Recurrent upper respiratory tract... |
OMIM:253200 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity |
ORPHA:1934 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... |
OMIM:300989 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Optic disc coloboma, Ventricular septal defect |
ORPHA:251014 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atelectasis, Res... |
OMIM:269860 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteri... |
OMIM:616894 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:363528 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hepatom... |
ORPHA:99827 |
Frontometaphyseal Dysplasia 1 |
|
Stridor, Cor pulmonale, Mitral valve prolapse |
OMIM:305620 |
C Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Patent ductus arteriosus |
OMIM:618005 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Tracheobronchomalacia, Patent foramen ovale, Arrhythmia |
OMIM:619184 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Recurrent respiratory infections, Ventricular septal defect, Congenital pulmonary a... |
OMIM:243150 |
Short Stature-Micrognathia Syndrome |
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Ventricular septal defect |
OMIM:617164 |
Osteopathia Striata With Cranial Sclerosis |
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Apnea, Ventricular septal defect, Facial palsy, Tracheomalacia, Patent ductus arteriosus, Atrial ... |
OMIM:300373 |
Orotic Aciduria |
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Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Lymphoid Interstitial Pneumonia |
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Hepatomegaly, Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respirat... |
ORPHA:79128 |
Fanconi Anemia, Complementation Group N |
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Ventricular septal defect |
OMIM:610832 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
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Atrial septal defect, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
Distal 22Q11.2 Microdeletion Syndrome |
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Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Atrial septal ... |
ORPHA:261330 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Abnormal heart morpholo... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Abnormal heart morpholo... |
ORPHA:352665 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
Koolen-De Vries Syndrome |
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Abnormal cardiac septum morphology, Bicuspid aortic valve |
ORPHA:96169 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Ventricular septal defect, Pulmonary hypoplasia |
OMIM:612530 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Pneumothorax, Mitral ... |
OMIM:617402 |
Loeys-Dietz Syndrome 5 |
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Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissectio... |
OMIM:615582 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu... |
ORPHA:464738 |
Craniotubular Dysplasia, Ikegawa Type |
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Optic atrophy, Ventricular septal defect, Optic neuropathy, Optic nerve compression |
OMIM:619727 |
Wiedemann-Steiner Syndrome |
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Atrial septal defect, Patent ductus arteriosus |
OMIM:605130 |
Radio-Tartaglia Syndrome |
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Ventricular septal defect |
OMIM:619312 |
Fetal Alcohol Syndrome |
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Atrial septal defect |
ORPHA:1915 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Mucosal telangiectasiae, Cardiomegaly |
ORPHA:2463 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Heart murmur, Int... |
ORPHA:163979 |
Congenital Alpha2-Antiplasmin Deficiency |
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Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Shprintzen-Goldberg Syndrome |
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Mitral regurgitation, Abnormal aortic valve morphology, Apnea, Mitral valve prolapse |
ORPHA:2462 |
Marfan Syndrome |
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Pulmonary artery dilatation, Mitral valve calcification, Spontaneous pneumothorax, Congestive hea... |
ORPHA:558 |
Chromosome 10Q26 Deletion Syndrome |
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Atrial septal defect, Patent ductus arteriosus |
OMIM:609625 |
Thauvin-Robinet-Faivre Syndrome |
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Varicose veins, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... |
OMIM:606721 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent respiratory infections, Facial palsy, Heart murmur, Mitral valve prolapse, Abnormal hea... |
OMIM:615873 |
Focal Dermal Hypoplasia |
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Telangiectasia of the skin, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplas... |
ORPHA:2092 |
Holoprosencephaly |
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Ventricular septal defect, Abnormal pulmonary valve morphology, Optic atrophy, Respiratory insuff... |
ORPHA:2162 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Patent foramen ovale |
OMIM:616975 |
Spondyloocular Syndrome |
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Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Distal Duplication 5Q |
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Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lym... |
ORPHA:1655 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Coarctation of aorta, Hyp... |
OMIM:220111 |
Polycythemia Vera |
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Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... |
ORPHA:500095 |
Chromosome 15Q25 Deletion Syndrome |
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Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia |
OMIM:614294 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory dis... |
OMIM:300968 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Mitral regurgitation, Dilated cardiomyopathy, Respiratory insufficiency, Mitral valve prolapse |
OMIM:607459 |
Robinow Syndrome, Autosomal Recessive 2 |
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Bicuspid aortic valve |
OMIM:618529 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Mucolipidosis Ii Alpha/Beta |
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Aortic regurgitation, Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Splenomegaly, Congestive ... |
OMIM:252500 |
8Q24.3 Microdeletion Syndrome |
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Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Optic nerve hypopla... |
ORPHA:508488 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Acute respiratory distress syndrome, Portal hypertension, Patent ductus arteriosus, Wheezing, Res... |
OMIM:620005 |
Hutchinson-Gilford Progeria Syndrome |
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Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Fanconi Anemia, Complementation Group F |
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Atrial septal defect, Patent ductus arteriosus, Pneumonia |
OMIM:603467 |
Oculodentodigital Dysplasia |
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Arrhythmia, Optic atrophy, Ventricular septal defect |
ORPHA:2710 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Atrial septal defect, Total anomalous pulmonary venous return |
OMIM:609945 |
Genitopatellar Syndrome |
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Atrial septal defect, Apnea, Pulmonary hypoplasia |
ORPHA:85201 |
Wolcott-Rallison Syndrome |
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Atrial septal defect, Hepatomegaly, Double outlet right ventricle |
ORPHA:1667 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
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Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
Thakker-Donnai Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
Bohring-Opitz Syndrome |
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Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect |
OMIM:605039 |
Lymphatic Malformation 6 |
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Splenomegaly, Intestinal lymphangiectasia, Varicose veins, Chylothorax, Atrial septal defect, Ple... |
OMIM:616843 |
Mosaic Trisomy 1 |
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Pulmonary artery atresia, Ventricular septal defect, Pulmonary hypoplasia, Coarctation of aorta |
ORPHA:1692 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Optic atrophy, Intracranial hemorr... |
ORPHA:394 |
Craniofacioskeletal Syndrome |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch |
OMIM:300712 |
Zttk Syndrome |
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Aortic regurgitation, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arterios... |
OMIM:617140 |
16P13.11 Microdeletion Syndrome |
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Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
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Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia |
ORPHA:140952 |
Coffin-Siris Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
ORPHA:1465 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615503 |
Trichorhinophalangeal Syndrome, Type Ii |
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Recurrent respiratory infections, Internal carotid artery dissection, Bicuspid aortic valve, Myoc... |
OMIM:150230 |
Esophageal Atresia |
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Respiratory distress, Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Ep... |
ORPHA:1199 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:411709 |
Phelan-Mcdermid Syndrome |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:606232 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Recurrent respiratory infections, Facial palsy, Optic disc coloboma, Atrial septal defect, Pulmon... |
OMIM:620186 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Respiratory distress, Medial calcification of large arteries, Transient ... |
ORPHA:51608 |
Fontaine Progeroid Syndrome |
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Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:612289 |
Wolf-Hirschhorn Syndrome |
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Recurrent respiratory infections, Abnormal heart valve morphology, Optic atrophy, Aplasia/Hypopla... |
ORPHA:280 |
Oculoectodermal Syndrome |
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Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:600268 |
3Mc Syndrome 1 |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Conjunctival telangiec... |
OMIM:257920 |
Woodhouse-Sakati Syndrome |
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Choreoathetosis, Dystonia, Bilateral sensorineural hearing impairment, Protruding ear |
ORPHA:3464 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Fryns Syndrome |
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Aganglionic megacolon, Ventricular septal defect, Stillbirth, Pulmonary hypoplasia, Chylothorax, ... |
OMIM:229850 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Hematochezia, Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary a... |
OMIM:619575 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Aortic aneurysm, Mitral valve prolapse |
OMIM:182212 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect |
OMIM:222448 |
Idiopathic Hypereosinophilic Syndrome |
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Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... |
ORPHA:3260 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Bicuspid aortic valve, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, Aorti... |
OMIM:613563 |
Lethal Kniest-Like Dysplasia |
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Atrial septal defect |
ORPHA:2347 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Atrial septal defect, Upper airway obstruction |
OMIM:207410 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Patent ductus arteriosus, Abnormal lung lobation, Abnormal heart morphology, Atrial septal defect... |
ORPHA:369837 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
3Q29 Microduplication Syndrome |
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Ventricular septal defect |
ORPHA:251038 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Respiratory insufficie... |
OMIM:139210 |
Fanconi Anemia |
|
Aganglionic megacolon, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aor... |
ORPHA:84 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
Hereditary Hemorrhagic Telangiectasia |
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Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Neurooculorenal Syndrome |
|
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... |
OMIM:620305 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... |
OMIM:309801 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Apnea, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morpho... |
ORPHA:1052 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Ventricular septal defect, Respiratory tract infection, Patent ductus arter... |
OMIM:180849 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
Cornelia De Lange Syndrome 1 |
|
Optic disc coloboma, Optic atrophy, Ventricular septal defect, Pneumonia |
OMIM:122470 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Cough,... |
OMIM:619991 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Optic atrophy |
OMIM:619512 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... |
ORPHA:117 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Asthma, Abnormal h... |
ORPHA:444077 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Recurrent pneumonia, Mitral valve prolapse |
ORPHA:508533 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Ventricular septal defect, Coarctation of aorta |
ORPHA:268249 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent d... |
ORPHA:955 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Pleural effusion, Optic atrophy, Chylothorax |
ORPHA:2526 |
Abetalipoproteinemia |
|
Abnormal bleeding, Hepatomegaly, Cardiomegaly, Congestive heart failure, Respiratory failure, Pro... |
ORPHA:14 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Mitral valve prolapse |
OMIM:259600 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Abnorm... |
ORPHA:818 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... |
OMIM:611174 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Opitz Gbbb Syndrome |
|
Aspiration, Ventricular septal defect |
OMIM:300000 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Preductal coarctatio... |
OMIM:146510 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... |
OMIM:182250 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Raynaud phenomenon, Calcification of the aorta, Hepatosplenomegaly, Aortic aneurysm... |
ORPHA:51 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent lower respiratory tract infections, Ventricular septal defect |
OMIM:619229 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect |
OMIM:615948 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebral vascular morphology, A... |
ORPHA:79474 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Pleural effusion, ... |
OMIM:619573 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
OMIM:600373 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:263520 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Mitral valve prolapse |
ORPHA:369950 |
Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Common atrium |
OMIM:225500 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect, Optic nerve hypoplasia |
ORPHA:141099 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect |
OMIM:619306 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... |
ORPHA:1519 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep... |
ORPHA:3047 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Enlarged ovaries, Ventricular septal defect |
ORPHA:769 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... |
ORPHA:3472 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septa... |
OMIM:612474 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Trichohepatoneurodevelopmental Syndrome |
|
Splenomegaly, Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618268 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Ventricular septal defect |
ORPHA:3138 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Ascen... |
OMIM:617403 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great ar... |
OMIM:280000 |
Vici Syndrome |
|
Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath... |
OMIM:242840 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Prolonged bleeding following circumcision, H... |
OMIM:274000 |
Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Bicuspid aortic valve, Allergic rhinitis |
OMIM:176690 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of... |
ORPHA:284227 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Aganglionic megacolon, Splenomegaly, Patent ductus arter... |
OMIM:270400 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261323 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tracheomalacia, Aortic aneurysm |
OMIM:150250 |
Fanconi Anemia, Complementation Group C |
|
Bruising susceptibility, Ventricular septal defect |
OMIM:227645 |
Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Neonatal respiratory distress, Ventricular septal defect |
ORPHA:1393 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm |
OMIM:618891 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation |
OMIM:271640 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Transient ischemic attack, Optic nerve hypoplasia, Patent ductus arteri... |
ORPHA:500150 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Vascular Ehlers-Danlos Syndrome |
|
Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Respiratory insufficien... |
ORPHA:286 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Hepatomegaly, Truncus arteriosus, Abnormal lung lobation |
ORPHA:2538 |
Trichothiodystrophy |
|
Cardiomyopathy, Recurrent bronchopulmonary infections, Bronchospasm, Ventricular septal defect |
ORPHA:33364 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Neonatal respiratory d... |
OMIM:117650 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Splenomegaly, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect |
OMIM:619418 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Coarctation of aorta, Hypoplastic le... |
ORPHA:2308 |
Okamoto Syndrome |
|
Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal... |
ORPHA:2729 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Neonatal respiratory distress, Cerebral he... |
ORPHA:666 |
Distal Deletion 6P |
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Atrial septal defect |
ORPHA:96125 |
Cranioectodermal Dysplasia 2 |
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Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Hypertension, Atrial s... |
OMIM:613610 |
Trisomy 18 |
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Atrial septal defect, Ventricular septal defect |
ORPHA:3380 |
Alagille Syndrome 1 |
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Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... |
OMIM:118450 |
Ctcf-Related Neurodevelopmental Disorder |
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Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Atrial septal defect, Pulmo... |
ORPHA:363611 |
Diets-Jongmans Syndrome |
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Interrupted inferior vena cava with azygous continuation, Ventricular septal defect |
OMIM:618846 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Omodysplasia 1 |
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Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Congenital Horner syndrome, Neonatal respiratory distress, Ventricular septal defect, Mitral atre... |
OMIM:619503 |
Lymphedema-Distichiasis Syndrome |
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Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature, Arrhythmia |
ORPHA:33001 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Recurrent sinusitis |
OMIM:213980 |
Diamond-Blackfan Anemia |
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Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology... |
ORPHA:124 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Atrial septal defect, Hepatomegaly, Patent ductus arteriosus, Respiratory failure |
OMIM:300868 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Atrial septal defect, Pulmonary hypoplasia |
OMIM:616546 |
Marden-Walker Syndrome |
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Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... |
ORPHA:2461 |
Apert Syndrome |
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Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Ventricular septal defect, Optic nerve hypoplasia, Asthma, Recurrent pneumonia, Recurrent bronchitis |
OMIM:620330 |
Chromosome 16P13.3 Duplication Syndrome |
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Atrial septal defect, Tracheobronchomalacia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Transposit... |
OMIM:256520 |
Hajdu-Cheney Syndrome |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:102500 |
Bent Bone Dysplasia Syndrome 2 |
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Atrial septal defect, Hepatomegaly |
OMIM:620076 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Recurrent upper respiratory t... |
OMIM:256040 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... |
ORPHA:268261 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Ventricular septal defect, Congenital pulmonary airway malformation |
ORPHA:436252 |
Osteogenesis Imperfecta, Type Vii |
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Absent pulmonary artery, Hypoplastic pulmonary veins |
OMIM:610682 |
Catel-Manzke Syndrome |
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Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta |
OMIM:616145 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula... |
ORPHA:459070 |
Digeorge Syndrome |
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Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Chronic pulmonary obstruction,... |
OMIM:188400 |
Oculodentodigital Dysplasia |
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Atrial septal defect, Arrhythmia |
OMIM:164200 |
Limb Body Wall Complex |
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Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology |
ORPHA:2369 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Ventricular septal defect, Muscular ventricular septal defect, Respiratory insufficiency, Coarcta... |
OMIM:210710 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Coarctation of aorta |
ORPHA:1772 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morpholo... |
ORPHA:96334 |
Simpson-Golabi-Behmel Syndrome |
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Prolonged QT interval, Hepatomegaly, Bundle branch block, Ventricular septal defect, Splenomegaly... |
ORPHA:373 |
Cranioectodermal Dysplasia 1 |
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Hepatomegaly, Bicuspid aortic valve, Recurrent respiratory infections |
OMIM:218330 |
Chromosome 13Q14 Deletion Syndrome |
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Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:99413 |
Mosaic Monosomy X |
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Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:99226 |
Turner Syndrome |
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Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:881 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... |
OMIM:619475 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Ventricular septal defect |
ORPHA:1071 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Hepatomegaly, Ventricular septal defect, Splenomegaly, Prolonged prothrombin time, Bleeding with ... |
OMIM:619525 |
Renpenning Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis |
OMIM:309500 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Restrictive Dermopathy 1 |
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Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Neonatal death, Atrial septal defect |
OMIM:275210 |
Stickler Syndrome |
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Recurrent respiratory infections, Arrhythmia, Mitral valve prolapse |
ORPHA:828 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Aganglionic megacolon, Recurrent upper respiratory tract infections, Hypertension, Neonatal death... |
OMIM:308205 |
Penile Agenesis |
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Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:49 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
Carpenter Syndrome 2 |
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Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transpos... |
OMIM:614976 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Tracheomalacia, Ventricular septal defect, Right aortic arch |
ORPHA:513456 |
Restrictive Dermopathy |
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Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr... |
ORPHA:1662 |
Hydrolethalus Syndrome 1 |
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Abnormal lung lobation, Complete atrioventricular canal defect, Stillbirth, Ventricular septal de... |
OMIM:236680 |
Sotos Syndrome |
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Aganglionic megacolon, Ventricular septal defect, Small cell lung carcinoma, Patent ductus arteri... |
ORPHA:821 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Vater/Vacterl Association |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... |
OMIM:192350 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Diphallia |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:227 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect |
OMIM:259770 |
Townes-Brocks Syndrome |
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Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... |
ORPHA:857 |
Kabuki Syndrome 1 |
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Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia, Coarctation of a... |
OMIM:147920 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Respiratory insuffic... |
ORPHA:672 |
Coffin-Siris Syndrome 1 |
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Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep... |
OMIM:135900 |
Pauci-Immune Glomerulonephritis |
|
Dyspnea, Arteritis, Pulmonary hemorrhage, Cough, Abnormality of the pulmonary vasculature, Small ... |
ORPHA:93126 |
Floating-Harbor Syndrome |
|
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... |
ORPHA:2044 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Hypertension |
OMIM:300896 |
Poland Syndrome |
|
Atrial septal defect, Dextrocardia |
ORPHA:2911 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619522 |
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 |
Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, Optic disc coloboma, Bicuspid aortic valve, Pulmonary hypoplasia |
OMIM:309800 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Respiratory failure, Stillbirth, Atrial septal defect, Dilatation of t... |
OMIM:304120 |
Genitopatellar Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:606170 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Ventricular septal defect |
OMIM:181450 |
Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:194190 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Splenomegal... |
OMIM:243800 |
Roberts-Sc Phocomelia Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Stillbirth, Ventricular septal defect |
OMIM:268300 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Cornelia De Lange Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:199 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Apneic episodes in inf... |
OMIM:601803 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial... |
OMIM:216340 |
Multiple Osteochondromas |
|
Pseudoaneurysm, Pneumothorax, Hemothorax |
ORPHA:321 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Pul... |
OMIM:164210 |