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