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Gene: Ntrk3 MGI:97385

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
neurotrophic tyrosine kinase, receptor, type 3
Synonyms:
TrkC

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ntrk3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ntrk3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Ventricular septal defect OMIM:617164
Osteopathia Striata With Cranial Sclerosis
Apnea, Ventricular septal defect, Facial palsy, Tracheomalacia, Patent ductus arteriosus, Atrial ... OMIM:300373
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respirat... ORPHA:79128
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis ORPHA:436003
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Distal 22Q11.2 Microdeletion Syndrome
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
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
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Abnormal heart morpholo... ORPHA:352665
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia OMIM:612530
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Pneumothorax, Mitral ... OMIM:617402
Loeys-Dietz Syndrome 5
Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissectio... OMIM:615582
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu... ORPHA:464738
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Ventricular septal defect, Optic neuropathy, Optic nerve compression OMIM:619727
Wiedemann-Steiner Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:605130
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Cardiomegaly ORPHA:2463
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Heart murmur, Int... ORPHA:163979
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Shprintzen-Goldberg Syndrome
Mitral regurgitation, Abnormal aortic valve morphology, Apnea, Mitral valve prolapse ORPHA:2462
Marfan Syndrome
Pulmonary artery dilatation, Mitral valve calcification, Spontaneous pneumothorax, Congestive hea... ORPHA:558
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:609625
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... OMIM:606721
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Facial palsy, Heart murmur, Mitral valve prolapse, Abnormal hea... OMIM:615873
Focal Dermal Hypoplasia
Telangiectasia of the skin, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplas... ORPHA:2092
Holoprosencephaly
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
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Patent foramen ovale OMIM:616975
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lym... ORPHA:1655
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Coarctation of aorta, Hyp... OMIM:220111
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... ORPHA:500095
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia OMIM:614294
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory dis... OMIM:300968
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral regurgitation, Dilated cardiomyopathy, Respiratory insufficiency, Mitral valve prolapse OMIM:607459
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Splenomegaly, Congestive ... OMIM:252500
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Optic nerve hypopla... ORPHA:508488
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Portal hypertension, Patent ductus arteriosus, Wheezing, Res... OMIM:620005
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Fanconi Anemia, Complementation Group F
Atrial septal defect, Patent ductus arteriosus, Pneumonia OMIM:603467
Oculodentodigital Dysplasia
Arrhythmia, Optic atrophy, Ventricular septal defect ORPHA:2710
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Total anomalous pulmonary venous return OMIM:609945
Genitopatellar Syndrome
Atrial septal defect, Apnea, Pulmonary hypoplasia ORPHA:85201
Wolcott-Rallison Syndrome
Atrial septal defect, Hepatomegaly, Double outlet right ventricle ORPHA:1667
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Bohring-Opitz Syndrome
Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect OMIM:605039
Lymphatic Malformation 6
Splenomegaly, Intestinal lymphangiectasia, Varicose veins, Chylothorax, Atrial septal defect, Ple... OMIM:616843
Mosaic Trisomy 1
Pulmonary artery atresia, Ventricular septal defect, Pulmonary hypoplasia, Coarctation of aorta ORPHA:1692
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Optic atrophy, Intracranial hemorr... ORPHA:394
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Zttk Syndrome
Aortic regurgitation, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arterios... OMIM:617140
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... ORPHA:1465
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:615503
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Internal carotid artery dissection, Bicuspid aortic valve, Myoc... OMIM:150230
Esophageal Atresia
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
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Facial palsy, Optic disc coloboma, Atrial septal defect, Pulmon... OMIM:620186
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Medial calcification of large arteries, Transient ... ORPHA:51608
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Optic atrophy, Aplasia/Hypopla... ORPHA:280
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Conjunctival telangiec... OMIM:257920
Woodhouse-Sakati Syndrome
Choreoathetosis, Dystonia, Bilateral sensorineural hearing impairment, Protruding ear ORPHA:3464
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Fryns Syndrome
Aganglionic megacolon, Ventricular septal defect, Stillbirth, Pulmonary hypoplasia, Chylothorax, ... OMIM:229850
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
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
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... ORPHA:3260
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, Aorti... OMIM:613563
Lethal Kniest-Like Dysplasia
Atrial septal defect ORPHA:2347
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Upper airway obstruction OMIM:207410
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
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
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
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
Atrial septal defect ORPHA:96125
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Hypertension, Atrial s... OMIM:613610
Trisomy 18
Atrial septal defect, Ventricular septal defect ORPHA:3380
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Atrial septal defect, Pulmo... ORPHA:363611
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect OMIM:618846
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Neonatal respiratory distress, Ventricular septal defect, Mitral atre... OMIM:619503
Lymphedema-Distichiasis Syndrome
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
Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology... ORPHA:124
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Hepatomegaly, Patent ductus arteriosus, Respiratory failure OMIM:300868
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia OMIM:616546
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... ORPHA:2461
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Optic nerve hypoplasia, Asthma, Recurrent pneumonia, Recurrent bronchitis OMIM:620330
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tracheobronchomalacia, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Transposit... OMIM:256520
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Hepatomegaly OMIM:620076
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Recurrent upper respiratory t... OMIM:256040
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Congenital pulmonary airway malformation ORPHA:436252
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta OMIM:616145
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula... ORPHA:459070
Digeorge Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Chronic pulmonary obstruction,... OMIM:188400
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia OMIM:164200
Limb Body Wall Complex
Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology ORPHA:2369
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Respiratory insufficiency, Coarcta... OMIM:210710
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Coarctation of aorta ORPHA:1772
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morpholo... ORPHA:96334
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Hepatomegaly, Bundle branch block, Ventricular septal defect, Splenomegaly... ORPHA:373
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Recurrent respiratory infections OMIM:218330
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99228
Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:881
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... OMIM:619475
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Congenital Disorder Of Glycosylation, Type Iiw
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
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Restrictive Dermopathy 1
Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Neonatal death, Atrial septal defect OMIM:275210
Stickler Syndrome
Recurrent respiratory infections, Arrhythmia, Mitral valve prolapse ORPHA:828
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Recurrent upper respiratory tract infections, Hypertension, Neonatal death... OMIM:308205
Penile Agenesis
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
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transpos... OMIM:614976
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Ventricular septal defect, Right aortic arch ORPHA:513456
Restrictive Dermopathy
Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr... ORPHA:1662
Hydrolethalus Syndrome 1
Abnormal lung lobation, Complete atrioventricular canal defect, Stillbirth, Ventricular septal de... OMIM:236680
Sotos Syndrome
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
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... OMIM:192350
Spondylometaphyseal Dysplasia, Sedaghatian Type
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
Ventricular septal defect OMIM:259770
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... ORPHA:857
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia, Coarctation of a... OMIM:147920
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Respiratory insuffic... ORPHA:672
Coffin-Siris Syndrome 1
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ntrk3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ntrk3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The dependence receptor TrkC regulates the number of sensory neurons during DRG development. Developmental biology (July 2018) Ntrk3tm1a(EUCOMM)Hmgu 30071216

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ntrk3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ntrk3tm40434(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ntrk3tm40434(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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