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 |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Striatonigral Degeneration, Infantile |
|
Spasticity, Choreoathetosis, Dystonia, Optic atrophy |
OMIM:271930 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:249670 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Right aortic arch, Hyp... |
OMIM:613854 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Optic atrophy |
ORPHA:3129 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Early-Onset X-Linked Optic Atrophy |
|
Gait ataxia, Dysdiadochokinesis, Optic atrophy, Choreoathetosis, Babinski sign, Decreased nerve c... |
ORPHA:98890 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Asthma, Elevate... |
ORPHA:563 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Coronary artery a... |
ORPHA:217607 |
Deafness, Autosomal Dominant 9 |
|
Abnormality of the vestibulocochlear nerve |
OMIM:601369 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... |
ORPHA:98810 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... |
ORPHA:99105 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... |
ORPHA:422 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia |
OMIM:125370 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Writer's cramp, Involuntary movements, Athetosis, Dystonia |
ORPHA:98809 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... |
OMIM:108900 |
Leber Optic Atrophy And Dystonia |
|
Spasticity, Optic atrophy, Upper motor neuron dysfunction, Athetosis, Dystonia, Bradykinesia |
OMIM:500001 |
Choreoathetosis, Familial Inverted |
|
Progressive choreoathetosis, Rigidity, Abnormal pyramidal sign, Gait disturbance |
OMIM:118750 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... |
ORPHA:98811 |
Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Athetosis, Dystonia |
OMIM:615159 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Pulmonary artery atresia |
ORPHA:1208 |
Leukodystrophy, Hypomyelinating, 21 |
|
Optic atrophy, Ataxia, Tetraparesis, Athetosis, Dystonia |
OMIM:619310 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology |
ORPHA:2868 |
Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Episodic quadriplegia, Hemiplegia, Ataxia, Tetraplegia, Dystonia |
OMIM:614820 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... |
OMIM:213600 |
Mast Syndrome |
|
Dysdiadochokinesis, Apraxia, Gait disturbance, Incoordination, Babinski sign, Spastic paraplegia,... |
OMIM:248900 |
Infantile Convulsions And Choreoathetosis |
|
Chorea, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Dystonia |
ORPHA:31709 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... |
ORPHA:1354 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Persistent fetal circulation, Mitral valve prolapse, Respiratory distre... |
OMIM:612863 |
3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia |
ORPHA:67047 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic hemiplegia, Dystonia, Choreoathetosis, Episodic quadriplegia |
OMIM:104290 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:251076 |
Hsd10 Disease |
|
Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Spastic paraparesi... |
ORPHA:391417 |
Salt And Pepper Developmental Regression Syndrome |
|
Myoclonus, Choreoathetosis, Hearing impairment, Optic atrophy |
OMIM:609056 |
Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Action myoclonus |
OMIM:616230 |
Schimke X-Linked Mental Retardation Syndrome |
|
Spasticity, Choreoathetosis, Hearing impairment |
OMIM:312840 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Respiratory insufficiency, Right bundle branch... |
ORPHA:1880 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Optic atrophy, Rigidity, Myoclonus, Gait disturbance, Loss of ambulation, Athe... |
OMIM:618241 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Motor conduction block, Abnormality of somatosensory evoked potentia... |
ORPHA:206594 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Chorea, Vertigo, Athetosis, Parkinsonism |
OMIM:615483 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Spasticity, Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, A... |
ORPHA:225154 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, Pulmonary ... |
ORPHA:2257 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Spasticity, Sensorineural hearing impairment, Ataxia, Athetosis, Dystonia |
OMIM:612951 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Asthma, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
Infantile Cerebellar-Retinal Degeneration |
|
Optic atrophy, Athetosis, Sensorineural hearing impairment, Ataxia |
OMIM:614559 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia |
OMIM:128200 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Congenital Gerbode Defect |
|
Systolic heart murmur, Crackles, Palpitations, Elevated right atrial pressure, Tricuspid regurgit... |
ORPHA:99095 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Heart block, Abnormal vena cava morpholog... |
ORPHA:185 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Allan-Herndon-Dudley Syndrome |
|
Underfolded superior helices, Macrotia, Inability to walk, Spastic tetraplegia, Stahl ear, Ataxia... |
OMIM:300523 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... |
OMIM:616201 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Torticollis, Paroxysmal dystonia |
OMIM:118800 |
Atrial Septal Defect, Coronary Sinus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Palpitations, Pneumonia, Exertional dyspnea, ... |
ORPHA:99104 |
Leukodystrophy, Hypomyelinating, 16 |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Choreoathetosis, Broad-based gait, Dysmetri... |
OMIM:617964 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Diff... |
OMIM:500003 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Chorea, Spasticity, Blepharospasm, Optic atrophy, Optic disc pallor, Rigidity, Clumsiness, Myoclo... |
OMIM:617282 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect |
OMIM:618901 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Spasticity, Abnormal pyramidal sign, Abnormality of somatosensory evoked potentials, Titubation, ... |
ORPHA:280219 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, Abnormal P ... |
ORPHA:99106 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal pulmonary valve morphology, Pulmonic stenosis, Optic nerve hypoplasia |
ORPHA:137634 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi... |
OMIM:606777 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Spasticity, Sensorineural hearing impairment, Inability to walk, Loss of ability to walk in early... |
OMIM:612073 |
Polyvalvular Heart Disease Syndrome |
|
Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon... |
ORPHA:228410 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Patent foramen ovale, Left aortic arch with cervical origin of the right subclav... |
OMIM:212093 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Coarctation of aorta, Pulmonic stenosis, Prolonged prothrombin time |
OMIM:614300 |
Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect |
OMIM:618499 |
3-Methylglutaconic Aciduria, Type I |
|
Spasticity, Spastic tetraplegia, Optic atrophy, Ataxia, Athetosis, Dystonia |
OMIM:250950 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Myoclonus, Intractable, Neonatal |
|
Chorea, Myoclonus, Athetosis, Optic disc pallor |
OMIM:617235 |
Pontocerebellar Hypoplasia, Type 17 |
|
Respiratory insufficiency, Secundum atrial septal defect, Ventricular septal defect, Patent ductu... |
OMIM:619909 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... |
ORPHA:53583 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Splenomegaly, Chylopericardium, Congestive heart failure, Respir... |
ORPHA:2414 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Optic atrophy, Clumsiness, Ataxia, Babinski sign, Loss of ambulation, Involuntary movements, Athe... |
OMIM:271245 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Optic atrophy |
OMIM:608688 |
Leukodystrophy, Hypomyelinating, 15 |
|
Spasticity, Abnormal pyramidal sign, Sensorineural hearing impairment, Optic atrophy, Ataxia, Los... |
OMIM:617951 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnormal left ventri... |
ORPHA:99103 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Gait imbalance, Myoclonus, Choreoathetosis, Progressive sensorineural hearing impairment, Ataxia,... |
OMIM:301020 |
Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Cogwheel rigidity, Hy... |
OMIM:616981 |
Oculocerebral Syndrome With Hypopigmentation |
|
Spasticity, Athetosis |
OMIM:257800 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Choreoathetosis, Positive Romberg sign, Ataxia, Babinski sign, Dysmetria, Loss of amb... |
OMIM:618088 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Choreoathetosis, Involuntary movements, Parkinsonism |
OMIM:616413 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ... |
ORPHA:71277 |
Developmental And Epileptic Encephalopathy 17 |
|
Chorea, Athetosis, Dystonia |
OMIM:615473 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dystonia, Amyotrophic lateral sclerosis, Paralysis |
OMIM:300857 |
Lessel-Kreienkamp Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Abno... |
OMIM:619149 |
Nephronophthisis 16 |
|
Patent ductus arteriosus, Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, A... |
OMIM:615382 |
Criss-Cross Heart |
|
Respiratory insufficiency, Ventricular septal defect, Abnormal mitral valve morphology, Mitral st... |
ORPHA:1461 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary hypoplasia, Tachycardia, Pulmonary artery stenosis, Ventricular sep... |
ORPHA:3384 |
Pseudo-Torch Syndrome 2 |
|
Respiratory insufficiency, Patent ductus arteriosus, Petechiae, Cerebral hemorrhage, Secundum atr... |
OMIM:617397 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery ... |
OMIM:185500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Right ventricular dilatation, Right ventricular hypert... |
OMIM:253700 |
Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Abnormality of extrapyramidal motor function, Ataxia, Progressive extrapyramidal movement... |
ORPHA:382 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Pulmonary artery dilatation, Pleural effusion, Pulmonary artery st... |
OMIM:265380 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... |
OMIM:620067 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Hypertrophic cardiomyopathy, Secundum atrial septal defect |
OMIM:619121 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... |
OMIM:615616 |
Leukodystrophy, Hypomyelinating, 2 |
|
Optic atrophy, Progressive spasticity, Rigidity, Decreased motor nerve conduction velocity, Chore... |
OMIM:608804 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Congenital lobar overinflation, Ventricular septal defect, Perimembranous ventricular septal defe... |
OMIM:600987 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Optic atrophy, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612438 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Sensorineural hearing impairment, Choreoathetosis, Dystonia, Decreased nerve conduction velocity |
OMIM:614932 |
Mungan Syndrome |
|
Abnormality of the autonomic nervous system, Tricuspid regurgitation, Pulmonic stenosis, Perimemb... |
OMIM:611376 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spasticity, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Dystonia |
OMIM:618238 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... |
OMIM:179613 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Atrial septal ... |
OMIM:615355 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Secundum atrial septal defect, Congestive heart f... |
OMIM:616866 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Tricuspid r... |
OMIM:619433 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Right ventricular di... |
OMIM:619705 |
Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
Baker-Gordon Syndrome |
|
Inability to walk, Choreoathetosis, Ataxia, Involuntary movements, Hyperkinetic movements, Atheto... |
OMIM:618218 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Abnormal lung lobation, Aortopu... |
OMIM:208530 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia |
OMIM:602066 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Ventricular septal defect, Atrial septal defect, Respiratory failure, ... |
OMIM:253300 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Recurrent lower respiratory tract infections, Perimembranous ven... |
OMIM:619170 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Mitral regurgitation, ... |
OMIM:616648 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:618719 |
Temple-Baraitser Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:611816 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
3C Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Optic... |
ORPHA:7 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
Monosomy 18Q |
|
Patent ductus arteriosus, Absence of the pulmonary valve, Left-to-right shunt, Secundum atrial se... |
ORPHA:1600 |
Cardiofaciocutaneous Syndrome 4 |
|
Abnormal aortic valve morphology, Pulmonic stenosis, Ventricular septal hypertrophy, Optic nerve ... |
OMIM:615280 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
OMIM:220210 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis, Persis... |
OMIM:609008 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Optic disc pallor, Atrial septal defect... |
OMIM:300887 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:615279 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Chorea, Athetosis, Choreoathetosis |
OMIM:309541 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Spasticity, Choreoathetosis, Myoclonus |
OMIM:617065 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Spasticity, Choreoathetosis, Dystonia |
OMIM:614249 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonic st... |
OMIM:612541 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au... |
ORPHA:85451 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Inability to walk, Myoclonus, Choreoathetosis, Hyperkinetic moveme... |
OMIM:618497 |
Salla Disease |
|
Spasticity, Athetosis, Ataxia, Inability to walk |
OMIM:604369 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Chorea, Spasticity, Involuntary movements, Hyperkinetic movements, Athetosis, Dystonia |
OMIM:617493 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia |
OMIM:617270 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Optic atrophy, Pulmonary... |
OMIM:618164 |
Frontoocular Syndrome |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:605321 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Atrioventricular canal defect, Patent ductus arteriosus, Aplasia/Hypop... |
ORPHA:1120 |
Oligomeganephronia |
|
Secundum atrial septal defect, Hypertension, Pulmonary hypoplasia, Pulmonary venous occlusion, Op... |
ORPHA:2260 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Coarc... |
ORPHA:3426 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Limb dystonia, Torticollis, Choreoathetosis, Ataxia, Babinski sign, Frequent falls |
OMIM:619054 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Choreoathetosis, Ataxia, Tremor, Bilateral sensorineural hearing impairment, Dystonia |
OMIM:619422 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Restrictive ventilatory defect, Right ventricular dilatation |
ORPHA:369847 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Ataxia, Hypertonia |
OMIM:617106 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Patent d... |
ORPHA:210122 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Choreoathetosis, Sensorineural hearing impairment, Facial palsy |
OMIM:617519 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Respiratory distress, Pulmonary hypoplasia, Situs inversus totalis... |
OMIM:202650 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... |
OMIM:614823 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Enlarged kidney, Abnormal lung lobation, Pulmonary hypoplasia, Hypertrophic c... |
OMIM:615415 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... |
ORPHA:2306 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Patent ductus arteriosus, Congestive heart failure... |
ORPHA:90308 |
Developmental And Epileptic Encephalopathy 67 |
|
Gait disturbance, Athetosis, Dystonia |
OMIM:618141 |
Hsd10 Mitochondrial Disease |
|
Spasticity, Sensorineural hearing impairment, Optic atrophy, Spastic tetraplegia, Choreoathetosis |
OMIM:300438 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... |
OMIM:606703 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:3304 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Myoclonus, Choreoathetosis, Paraparesis, Ataxia, Spastic para... |
ORPHA:726 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Inability to walk, Choreoathetosis, Ataxia, Babinski sign, Spastic paraplegia |
OMIM:619735 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Restrictive ventilatory defect, Right ventricular dilatation, Hepatomegaly |
ORPHA:369840 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:619239 |
Developmental And Epileptic Encephalopathy 44 |
|
Spasticity, Athetosis, Dystonia |
OMIM:617132 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612562 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Atrioventricular block, Arrhythmia, Cardiomegaly, C... |
ORPHA:85447 |
Pettigrew Syndrome |
|
Gait ataxia, Spasticity, Sensorineural hearing impairment, Choreoathetosis, High-frequency hearin... |
OMIM:304340 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defec... |
OMIM:601186 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy |
OMIM:619492 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:615802 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Spastic tetraplegia, Limb hypertonia, Optic atrophy, Ataxia, Dysmetria, Tremor, Hypertonia, Athet... |
OMIM:617710 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Prolonged prothrombin time |
OMIM:616559 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Splenomegaly, Ventricular septal defec... |
OMIM:608149 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... |
OMIM:234810 |
Dystonia 9 |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia |
OMIM:601042 |
Optic Atrophy 11 |
|
Gait apraxia, Macrotia, Optic atrophy, Ataxia, Optic nerve hypoplasia, Facial diplegia, Decreased... |
OMIM:617302 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Optic atrophy, Cardiac arrest, Congesti... |
ORPHA:49827 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... |
ORPHA:1457 |
8Q12 Microduplication Syndrome |
|
Abnormal cranial nerve morphology, Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Chorea, Falls, Rigidity, Abnormality of extrapyramidal motor function, Oculogyric crisis, Choreoa... |
ORPHA:13 |
3-Methylglutaconic Aciduria, Type Ix |
|
Spasticity, Optic atrophy, Choreoathetosis, Hypertonia, Clonus |
OMIM:617698 |
Autosomal Dominant Cerebellar Ataxia |
|
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... |
ORPHA:99 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Athetosis, Dystonia, Spastic tetraplegia |
OMIM:619922 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Tyshchenko Syndrome |
|
Pulmonic stenosis, Sleep apnea, Ventricular septal defect, Atrial septal defect |
OMIM:615102 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Spasticity, Choreoathetosis, Tetraplegia, Clonus, Dystonia |
OMIM:616034 |
Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Inability to walk, Optic atrophy, Writer's cramp, Choreoathetosis, Ataxi... |
OMIM:312080 |
Alagille Syndrome 2 |
|
Hypertension, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pu... |
OMIM:610205 |
Down Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... |
OMIM:190685 |
Noonan Syndrome 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse,... |
OMIM:609942 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ... |
ORPHA:99147 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Choreoathetosis, Ataxia, Dysmetria, ... |
OMIM:604391 |
Legius Syndrome |
|
Supravalvar pulmonary stenosis |
OMIM:611431 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Bronchiectasis, Recurrent sinusitis, Atrial septal defect, Recurrent pneumonia, Recurrent respira... |
OMIM:618282 |
Serkal Syndrome |
|
Pulmonic stenosis, Pulmonary hypoplasia, Ventricular septal defect |
ORPHA:139466 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Choreoathetosis, Dystonia, Ataxia |
OMIM:612126 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal autonomic nervous system physiology... |
OMIM:613870 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Optic atrophy, Choreoathetosis, Hemiplegia/hemiparesis, Dystonia |
ORPHA:289916 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Recurrent respiratory infections, Hypertension |
OMIM:619758 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Sneddon Syndrome |
|
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Stroke, Facial palsy |
OMIM:182410 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Chorea, Spasticity, Cerebral palsy, Choreoathetosis, Babinski sign, Hypertonia, Low-set ears, Dys... |
OMIM:618451 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left... |
OMIM:616564 |
Developmental And Epileptic Encephalopathy 6B |
|
Chorea, Inability to walk, Myoclonus, Choreoathetosis, Ataxia, Hyperkinetic movements, Dystonia |
OMIM:619317 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dystonia, B... |
OMIM:261640 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspid aortic valve, Hypertension, A... |
OMIM:613355 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Right ventricular hypertroph... |
OMIM:616028 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect |
OMIM:615297 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Abnormal pyramidal sign, Akinesia, Optic atrophy, Truncal ataxia, Choreoathetosis, Lower limb spa... |
OMIM:618249 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Pulmonary edema, Pericardial ... |
ORPHA:199241 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macrotia, Shuffling gait, Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxi... |
OMIM:300055 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Respiratory insufficiency, Optic atrophy, Dilated cardiomyopathy, Atrial septal defect, Myocardia... |
OMIM:253800 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Ventricular septal defect, Optic nerve hypoplasia, Abnormal left v... |
OMIM:301056 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Exertional dyspnea, Coronary artery atheroscleros... |
ORPHA:229 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Abnormal pyramidal sign, Optic atrophy, Optic disc pallor, Oculomotor apraxia, Pain insensitivity... |
OMIM:614388 |
Snijders Blok-Campeau Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect |
OMIM:618205 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
Hereditary Methemoglobinemia |
|
Spasticity, Spastic tetraplegia, Limb dystonia, Hypertonia, Athetosis |
ORPHA:621 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Spasticity, Inability to walk, Parkinsonism, Apraxia, Choreoathetosis, Spastic tetraparesis, Opis... |
OMIM:619653 |
Primary Ciliary Dyskinesia |
|
Bronchiectasis, Productive cough, Airway obstruction, Abnormal inferior vena cava morphology, Whe... |
ORPHA:244 |
Pancreatic And Cerebellar Agenesis |
|
Apnea, Secundum atrial septal defect, Optic nerve hypoplasia |
OMIM:609069 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Respiratory insufficiency, Perimembranous ventricular septal defect, Secundum atrial septal defec... |
OMIM:608779 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
Carpenter Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Optic atrophy, Atrial septal defect, Tetralo... |
OMIM:201000 |
Folate Malabsorption, Hereditary |
|
Athetosis, Ataxia |
OMIM:229050 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Spasticity, Limb hypertonia, Choreoathetosis, Ataxia, Involuntary movements, Dystonia |
OMIM:615905 |
Holt-Oram Syndrome |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Patent ductus a... |
OMIM:142900 |
Timothy Syndrome |
|
Bronchitis, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Prolonged ... |
OMIM:601005 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Congestive heart failure, Hyper... |
OMIM:614096 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Recurrent sinusitis, Atr... |
OMIM:609029 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
Sulfite Oxidase Deficiency, Isolated |
|
Macrotia, Choreoathetosis, Hemiplegia, Ataxia, Hypertonia, Generalized dystonia |
OMIM:272300 |
Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Ventricular septal defect, Cardiac total anomalous pulm... |
OMIM:608978 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Sensorineural hearing impairment, Limb dystonia, Choreoathetosis, Decreased nerve conduction velo... |
ORPHA:319514 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Arrhythmia, Tr... |
OMIM:617877 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Respiratory insufficiency, Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left ... |
OMIM:616276 |
Leigh Syndrome With Cardiomyopathy |
|
Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Congestive heart failure, Apnea, Hyp... |
ORPHA:70474 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Pelizaeus-Merzbacher Disease |
|
Spasticity, Optic atrophy, Choreoathetosis, Gait disturbance, Ataxia, Dystonia, Hearing impairment |
ORPHA:702 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Facial telangiectasia, Ventricular sep... |
OMIM:602782 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Optic atrophy, Choreoathetosis, Tremor, Dystonia |
OMIM:617664 |
Free Sialic Acid Storage Disease |
|
Spasticity, Abnormal pyramidal sign, Oculomotor apraxia, Gait disturbance, Ataxia, Athetosis |
ORPHA:834 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Vascular dilatation, Exertional dyspnea, Pulmonic valve myxoma, Heart mur... |
ORPHA:615 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Optic disc pallor, Ventricular septal defect, Hepatomegaly |
OMIM:613730 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Truncal ataxia, Rigidity... |
OMIM:618877 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Facial telangiectasia, Pulmonic stenosis |
OMIM:620141 |
Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Arrhythmia |
OMIM:611553 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Dystonia |
OMIM:233910 |
Nemaline Myopathy 9 |
|
Respiratory insufficiency, Ventricular septal defect |
OMIM:615731 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Oculomotor apraxia, Choreoathetosis, Ataxia, Generalized dystonia, Dystonia |
OMIM:245348 |
X-Linked Creatine Transporter Deficiency |
|
Chorea, Aganglionic megacolon, Ataxia, Hypertonia, Athetosis, Dystonia |
ORPHA:52503 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Optic atrophy, Atrial septal defect, Situs inversus totalis, Arrhythmi... |
OMIM:249270 |
Myopathy With Extrapyramidal Signs |
|
Chorea, Optic atrophy, Clumsiness, Abnormality of extrapyramidal motor function, Choreoathetosis,... |
OMIM:615673 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Dilation of Virchow-Robin spaces |
OMIM:619951 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Optic atrophy, Hearing impairment, Spastic tetraplegia |
OMIM:258700 |
Developmental And Epileptic Encephalopathy 74 |
|
Choreoathetosis |
OMIM:618396 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Optic disc drusen, Accelerated atherosclerosis, M... |
OMIM:264800 |
Ogden Syndrome |
|
Torsade de pointes, Secundum atrial septal defect, Pulmonary hypoplasia, Premature atrial contrac... |
OMIM:300855 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormality of the pulmonary artery, Pulmonic stenosis, Abnormal mitral valve morphology |
ORPHA:1131 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... |
OMIM:614954 |
Rhizomelic Syndrome, Urbach Type |
|
Pulmonic stenosis |
ORPHA:3098 |
Foxg1 Syndrome |
|
Spasticity, Inability to walk, Myoclonus, Choreoathetosis, Difficulty walking, Hyperkinetic movem... |
ORPHA:561854 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Coronary artery athero... |
ORPHA:435638 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, Ventric... |
OMIM:605275 |
Jaberi-Elahi Syndrome |
|
Gait ataxia, Inability to walk, Appendicular spasticity, Optic atrophy, Choreoathetosis, Dysmetri... |
OMIM:617988 |
Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Chromosome 18Q Deletion Syndrome |
|
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... |
OMIM:601808 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis |
ORPHA:27 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Optic atrophy, Recurrent sinusitis, P... |
ORPHA:85202 |
Cat Eye Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:115470 |
Microhydranencephaly |
|
Macrotia, Athetosis, Spastic tetraplegia |
OMIM:605013 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegaly,... |
OMIM:614702 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Vascular dilatation, Abnormal mitral valve morphology, Bundle bran... |
ORPHA:500 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary window, Truncus... |
ORPHA:2299 |
Arboleda-Tham Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Optic atrophy, Recurrent aspiration pneumoni... |
OMIM:616268 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Dystonia, Frequent falls, Ataxia |
OMIM:618416 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Spastic dysarthria, ... |
ORPHA:95433 |
X-Linked Intellectual Disability, Schimke Type |
|
Spasticity, Choreoathetosis, Hearing impairment |
ORPHA:85285 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Leukodystrophy, Hypomyelinating, 4 |
|
Progressive spasticity, Choreoathetosis, Babinski sign, Spastic paraplegia, Head titubation |
OMIM:612233 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Abnormal bleeding, Bruising susceptibility, Atrial septal defect, Hype... |
OMIM:610733 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At... |
OMIM:617478 |
Woods Syndrome |
|
Ventricular septal defect, Optic atrophy |
OMIM:615236 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... |
OMIM:314400 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Co... |
ORPHA:96170 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis |
ORPHA:75496 |
Frank-Ter Haar Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... |
OMIM:249420 |
Alg9-Cdg |
|
Ventricular septal defect, Pericardial effusion, Enlarged kidney, Abnormal left ventricular outfl... |
ORPHA:79328 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... |
ORPHA:1329 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... |
OMIM:600001 |
Developmental And Epileptic Encephalopathy 1 |
|
Erratic myoclonus, Abnormal pyramidal sign, Choreoathetosis, Spastic tetraparesis, Hypertonia, Dy... |
OMIM:308350 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... |
OMIM:612561 |
Chops Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Aspiration pneumonia, Ventricular septal defect, ... |
OMIM:616368 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618652 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Noonan Syndrome 7 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect |
OMIM:613706 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Hepatomegaly |
OMIM:614876 |
Leigh Syndrome With Leukodystrophy |
|
Apnea, Hypertrophic cardiomyopathy, Ventricular septal defect, Optic atrophy |
ORPHA:255241 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Right bundle branch block, ... |
OMIM:617506 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Congenital Myopathy 11 |
|
Patent ductus arteriosus, Patent foramen ovale, Apneic episodes in infancy, Atrial septal defect,... |
OMIM:619967 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615996 |
Snijders Blok-Fisher Syndrome |
|
Spasticity, Choreoathetosis, Opisthotonus, Cupped ear, Protruding ear |
OMIM:618604 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Dystonia, Hearing impairment, Limb hypertonia |
OMIM:618247 |
Pyruvate Carboxylase Deficiency |
|
Athetosis, Clonus |
OMIM:266150 |
Absence Of The Pulmonary Artery |
|
Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Bronchiectasis, Pu... |
ORPHA:980 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3071 |
Takenouchi-Kosaki Syndrome |
|
Patent ductus arteriosus, Optic atrophy, Pulmonic stenosis, Abnormal cardiac septum morphology |
OMIM:616737 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Ankle clonus, Abnormal pyramidal sign, Shuffling ga... |
ORPHA:52368 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Abnormal pyramidal sign, Gait imbalance, Postural tremor, Oculomotor... |
ORPHA:64753 |
Congenital Myopathy 8 |
|
Respiratory insufficiency, Cardiomegaly, Congestive heart failure, Reduced vital capacity |
OMIM:618654 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Dystonia |
OMIM:312170 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Abnormal cardiac septum morphology |
ORPHA:2412 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partia... |
ORPHA:2847 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... |
ORPHA:261183 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Dystonia, Optic atrophy |
ORPHA:79312 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia |
ORPHA:3233 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pulmonic stenosis, Heart murmur |
OMIM:617600 |
Indomethacin Embryofetopathy |
|
Respiratory insufficiency, Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Hsd10 Disease, Infantile Type |
|
Spastic diplegia, Optic atrophy, Poor coordination, Choreoathetosis, Spastic tetraparesis, Loss o... |
ORPHA:391428 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve |
OMIM:300958 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment, Ataxia |
OMIM:271250 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... |
OMIM:618845 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Respiratory insufficiency, Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arr... |
OMIM:617021 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Pulmonic stenosis |
OMIM:613312 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Spasticity, Choreoathetosis |
OMIM:308950 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Meacham Syndrome |
|
Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Ventricular septal defect,... |
ORPHA:3097 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Recurrent respiratory infections, Ventricular septal defect |
OMIM:615508 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Secundum atrial septal defect |
OMIM:620072 |
Craniofaciofrontodigital Syndrome |
|
Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal circulation, Ventri... |
ORPHA:363705 |
Congenital Aortic Valve Stenosis |
|
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... |
ORPHA:3093 |
Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid ... |
ORPHA:2255 |
Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Heart murmur, Mitral valve prolapse, Hypo... |
ORPHA:284979 |
Pontocerebellar Hypoplasia, Type 7 |
|
Spasticity, Macrotia, Optic atrophy, Oculomotor apraxia, Myoclonus, Choreoathetosis, Ataxia, Spas... |
OMIM:614969 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Dextrocardia, Recurrent respiratory infections, Total anomalous ... |
OMIM:106700 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa... |
OMIM:608643 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... |
ORPHA:79094 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect |
ORPHA:1439 |
Cap Myopathy |
|
Aortic root aneurysm, Sinus tachycardia, Mitral valve prolapse, Reduced systolic function, Centra... |
ORPHA:171881 |
Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis |
OMIM:212780 |
Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Abnormal pyramidal sign, Cerebral palsy, Choreoathetosis, Gait disturbance, Ataxia, T... |
ORPHA:765 |
Monosomy 13Q34 |
|
Epistaxis, Prolonged prothrombin time, Common atrium, Hematochezia, Pulmonic stenosis |
ORPHA:96168 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect |
OMIM:614868 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
OMIM:105210 |
Episodic Ataxia Type 1 |
|
Tip-toe gait, Poor coordination, Clumsiness, Choreoathetosis, Vertigo, Hypertonia |
ORPHA:37612 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Optic disc coloboma, Tricuspid valve prolaps... |
ORPHA:261337 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left ventricular outflow tract obstruction, Aortopulmonary window, Pulmonary hypoplasia, Abnormal... |
ORPHA:99050 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Thoraco-Abdominal Enteric Duplication |
|
Respiratory insufficiency, Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly |
ORPHA:1759 |
Isolated Klippel-Feil Syndrome |
|
Abnormal cranial nerve morphology, Ventricular septal defect |
ORPHA:2345 |
Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Mitral valve prolapse, Bruising susceptibility, Epistaxis, Meno... |
OMIM:193400 |
Allan-Herndon-Dudley Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Spastic tetraplegia, Limb hypertonia, Abnormal... |
ORPHA:59 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:610840 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Atrial septal defect |
OMIM:618330 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma |
OMIM:603641 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:477817 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... |
ORPHA:401935 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Spasticity, Macrotia, Optic atrophy, Spastic diplegia, Choreoathetosis, Large earlobe |
ORPHA:2715 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Pulmonic stenosis |
OMIM:616977 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Cardiac arrest, Secundum... |
OMIM:619534 |
Birk-Landau-Perez Syndrome |
|
Limb hypertonia, Optic atrophy, Oculomotor apraxia, Choreoathetosis, Limb ataxia, Progressive sen... |
OMIM:617595 |
Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Optic atrophy, Atrial septal defect, Right ventr... |
OMIM:614261 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Optic disc coloboma, Atrial septal defect |
OMIM:241310 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation, Pulmonic stenosis |
OMIM:614325 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ... |
ORPHA:99125 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Spasticity, Inability to walk, Ataxia, Slurred speech, Athetosis, Dystonia, Hearing impairment |
ORPHA:357058 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage |
OMIM:300049 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Optic atrophy, Dilated cardiomyopathy, Noncompaction cardiomyopathy, Atrial... |
OMIM:610198 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... |
ORPHA:2248 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pneumothorax, Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissect... |
ORPHA:91387 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:619123 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect |
OMIM:617744 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Rigidity, Choreoathetosis, Inability to walk, Hypertonia |
OMIM:620023 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:619189 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Noonan Syndrome 14 |
|
Mitral valve prolapse, Bruising susceptibility, Aortic regurgitation, Hypertrophic cardiomyopathy... |
OMIM:619745 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Neonatal death, Aspiration pneumonia, Left ventricular hypertrophy, Dilated... |
OMIM:619167 |
Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Ventricular septal defect, Bicuspid aortic valve, Hypertension, ... |
OMIM:100300 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... |
ORPHA:371428 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Ventricular septal defect, Bronchiectasi... |
OMIM:616037 |
Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... |
ORPHA:99094 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis,... |
OMIM:277600 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Arnold-Chiari Malformation Type I |
|
Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth... |
ORPHA:268882 |
Geleophysic Dysplasia 2 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Mitral stenosis, Mitral valve prolaps... |
OMIM:614185 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Apnea, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia |
OMIM:616277 |
Cardiofaciocutaneous Syndrome |
|
Optic atrophy, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal hea... |
ORPHA:1340 |
Mitral Valve Prolapse 1 |
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Mitral valve prolapse, Mitral regurgitation |
OMIM:157700 |
Filippi Syndrome |
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Ventricular septal defect, Optic atrophy |
OMIM:272440 |
Unilateral Polymicrogyria |
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Pulmonary arteriovenous malformation, Epistaxis, Apnea, Abnormal heart morphology, Giant somatose... |
ORPHA:268943 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
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Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:610759 |
Hadziselimovic Syndrome |
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Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... |
OMIM:612946 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
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Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot |
ORPHA:2184 |
Aortic Aneurysm, Familial Thoracic 9 |
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Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm, ... |
OMIM:616166 |
Charge Syndrome |
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Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Secundum atri... |
OMIM:214800 |
Viss Syndrome |
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Aortic tortuosity, Ascending tubular aorta aneurysm, Pneumothorax, Carotid artery dilatation, Aor... |
OMIM:619472 |
Tetraamelia Syndrome 2 |
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Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral lung agenesis |
OMIM:618021 |
Encephalocraniocutaneous Lipomatosis |
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Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Coarctation... |
ORPHA:2396 |
Coffin-Siris Syndrome 4 |
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Patent ductus arteriosus, Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmon... |
OMIM:614609 |
Thanatophoric Dysplasia, Glasgow Variant |
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Neonatal death |
OMIM:273680 |
Angioosteohypertrophic Syndrome |
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Pulmonary embolism, Congestive heart failure, Venous insufficiency, Peripheral arteriovenous fist... |
ORPHA:2346 |
16P13.11 Microduplication Syndrome |
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Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... |
ORPHA:261243 |
Kabuki Syndrome 2 |
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Atrioventricular canal defect, Pulmonic stenosis, Atrial septal defect, Coarctation of aorta |
OMIM:300867 |
Microphthalmia, Syndromic 12 |
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Hypoplastic left atrium, Pulmonary hypoplasia, Ventricular septal defect |
OMIM:615524 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
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Mitral valve prolapse, Bruising susceptibility, Gastrointestinal hemorrhage, Arrhythmia, Precocio... |
ORPHA:230839 |
Stankiewicz-Isidor Syndrome |
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Patent ductus arteriosus, Abnormal optic disc morphology, Truncus arteriosus, Ventricular septal ... |
OMIM:617516 |
Familial Isolated Restrictive Cardiomyopathy |
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Interstitial cardiac fibrosis, Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophi... |
ORPHA:75249 |
Pontocerebellar Hypoplasia Type 2 |
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Spasticity, Paroxysmal dystonia, Choreoathetosis, Babinski sign, Upper limb hypertonia, Lower lim... |
ORPHA:2524 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Respiratory insufficiency, Abnormal aortic morphology, Ventricular septal defect, Abnormality of ... |
ORPHA:1166 |
Koolen-De Vries Syndrome |
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Aortic root aneurysm, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve,... |
OMIM:610443 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Brachial ple... |
ORPHA:268 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Chorea, Rigidity, Limb dystonia, Poor motor coordination, Ataxia, Vertigo, Tremor, Athetosis, Dys... |
ORPHA:25 |
Ehlers-Danlos Syndrome, Hypermobility Type |
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