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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... ORPHA:2041
Striatonigral Degeneration, Infantile
Optic atrophy, Dystonia, Choreoathetosis, Spasticity OMIM:271930
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, O... OMIM:618164
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Sarcosinemia
Pulmonic stenosis, Optic atrophy, Hypertrophic cardiomyopathy ORPHA:3129
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... ORPHA:98890
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Strok... ORPHA:563
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve OMIM:601369
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Stroke, Atria... ORPHA:99105
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascul... ORPHA:422
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... OMIM:614022
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Leukodystrophy, Hypomyelinating, 21
Ataxia, Tetraparesis, Optic atrophy, Athetosis, Dystonia OMIM:619310
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia OMIM:125370
Paroxysmal Kinesigenic Dyskinesia
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia ORPHA:98809
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Optic atrophy, Spasticity, Upper motor neuron dysfunction, Dystonia OMIM:500001
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Choreoathetosis, Familial Inverted
Gait disturbance, Rigidity, Abnormal pyramidal sign, Progressive choreoathetosis OMIM:118750
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Athetosis, Dystonia OMIM:615159
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia ORPHA:1208
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Hearing impairment, Dystonia OMIM:612438
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... ORPHA:98811
Basal Ganglia Calcification, Idiopathic, 5
Parkinsonism, Chorea, Athetosis, Motor tics, Vertigo OMIM:615483
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:614820
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, ... OMIM:612863
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Pulmonic stenosis, Abnormal heart valve morphology OMIM:126190
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Infantile Convulsions And Choreoathetosis
Chorea, Athetosis, Choreoathetosis, Involuntary movements, Paroxysmal dyskinesia, Dystonia ORPHA:31709
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Asthma, Atrial septal defect OMIM:614262
Ethanolaminosis
Cardiomegaly OMIM:227150
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Gait disturbance, Choreo... ORPHA:391417
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Myoclonus, Rigidity, Athetosis, Optic atrophy, Gait disturbance OMIM:618241
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Difficulty walkin... OMIM:500003
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosis OMIM:616230
Schimke X-Linked Mental Retardation Syndrome
Hearing impairment, Choreoathetosis, Spasticity OMIM:312840
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:104290
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Hypertonia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Optic disc pa... OMIM:617964
Primary Pulmonary Hypoplasia
Apnea, Asthma, Secundum atrial septal defect, Hypoxemia, Tachypnea, Dextrocardia, Pulmonary hypop... ORPHA:2257
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Leukoencephalopathy, Cystic, Without Megalencephaly
Sensorineural hearing impairment, Ataxia, Athetosis, Spasticity, Dystonia OMIM:612951
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Loss of ambulation, Myoclonus, Babinski sign, Rigidity, Tetraparesis, Optic a... ORPHA:225154
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Ataxia, Sensorineural hearing impairment, Athetosis OMIM:614559
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Clumsiness, Loss of ambulation, Athetosis, Optic atrophy, Hearing impairment OMIM:271245
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Anomalous pulmonary venous return, Stroke, ... ORPHA:99104
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... ORPHA:99095
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Abnormal respiratory system... ORPHA:99106
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Hearing impairment, Myoclonus, Choreoathetosis OMIM:609056
Allan-Herndon-Dudley Syndrome
Ataxia, Inability to walk, Stahl ear, Underfolded superior helices, Babinski sign, Macrotia, Athe... OMIM:300523
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:118800
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Athet... ORPHA:280219
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Facial diplegia, Sensorineural hearing impairment, Inability to walk, Hyperkinetic movements, Ath... OMIM:612073
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... OMIM:606777
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... ORPHA:228410
Noonan Syndrome 11
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Optic nerve hypoplasia, Pulmonic stenosis ORPHA:137634
3-Methylglutaconic Aciduria, Type I
Ataxia, Athetosis, Optic atrophy, Spasticity, Spastic tetraplegia, Dystonia OMIM:250950
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Chronic pulmonary ... ORPHA:2414
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Respiratory insufficiency, Patent ductus arteriosus, Secundum atrial s... OMIM:619909
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Dystonia OMIM:617493
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Leukodystrophy, Hypomyelinating, 15
Sensorineural hearing impairment, Ataxia, Loss of ambulation, Intention tremor, Abnormal pyramida... OMIM:617951
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Stroke, Systol... ORPHA:99103
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Choreoathetosis, Parkinsonism OMIM:616413
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... OMIM:619149
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Optic atrophy, Ventricular septal hypertrophy, Wolff-Parkinson-White s... OMIM:614947
Oculocerebral Syndrome With Hypopigmentation
Spasticity, Athetosis OMIM:257800
Developmental And Epileptic Encephalopathy 37
Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, Cogwheel rigidity, Choreoa... OMIM:616981
Developmental And Epileptic Encephalopathy 17
Dystonia, Chorea, Athetosis OMIM:615473
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, Patent ductus ... OMIM:615382
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Petechiae, Secundum atrial septal defect, Cerebral hemorrhag... OMIM:617397
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Paralysis, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... OMIM:619433
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, ... OMIM:615415
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Dystonia OMIM:618497
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ... OMIM:185500
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect, Coarctation of aorta OMIM:614300
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Respira... ORPHA:1461
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... OMIM:620067
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation ORPHA:3449
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Right ventricular dilatation, Pneumonia, Right ventricular hypert... OMIM:253700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... OMIM:265380
Combined Oxidative Phosphorylation Deficiency 13
Sensorineural hearing impairment, Dystonia, Choreoathetosis, Decreased nerve conduction velocity OMIM:614932
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Abnormality of extrapyramidal motor function, Chorea, Progressive extrapyramidal movement... ORPHA:382
Mungan Syndrome
Pulmonic stenosis, Abnormality of the autonomic nervous system, Tricuspid regurgitation, Perimemb... OMIM:611376
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... OMIM:600987
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Optic neuropathy, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Act... ORPHA:101
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Hypertrophic cardiomyopathy, Secundum atrial septal defect OMIM:619121
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... OMIM:615355
Leukodystrophy, Hypomyelinating, 2
Ataxia, Spastic paraparesis, Intention tremor, Decreased motor nerve conduction velocity, Babinsk... OMIM:608804
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplas... OMIM:616866
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Hypertrophic cardiomyopa... OMIM:619705
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... OMIM:618218
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Apnea, Secundum atrial septal defect OMIM:609069
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Choreoathetosis, Spasticity, Spastic tetraplegia, Dystonia OMIM:618238
Spinal Muscular Atrophy, Type I
Atrial septal defect, Respiratory insufficiency, Ventricular septal defect, Respiratory failure, ... OMIM:253300
Mitochondrial Complex I Deficiency, Nuclear Type 12
Choreoathetosis, Abnormality of extrapyramidal motor function OMIM:301020
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy, Prolonged bleeding time ORPHA:638
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Mitral regurgitation, Optic atrophy, Mitral valve prol... OMIM:616648
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Monosomy 18Q
Absence of the pulmonary valve, Aortic valve stenosis, Secundum atrial septal defect, Dysplastic ... ORPHA:1600
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Mitral regurgitatio... OMIM:612541
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Tetralogy of Fallot, Optic disc pallor, Ventricular hypertrophy, Pulmonary ... OMIM:300887
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Optic atrophy, Tremor, Choreoathetosis, Dystonia, Bilateral sensorineural hearing impairment OMIM:619422
Cardiofaciocutaneous Syndrome 4
Pulmonic stenosis, Optic nerve hypoplasia, Ventricular septal hypertrophy, Abnormal aortic valve ... OMIM:615280
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis OMIM:248950
Developmental And Epileptic Encephalopathy 67
Gait disturbance, Athetosis OMIM:618141
Oligomeganephronia
Secundum atrial septal defect, Pulmonary venous occlusion, Optic disc coloboma, Pulmonary hypopla... ORPHA:2260
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Dystonia, Choreoathetosis, Spasticity OMIM:614249
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Salla Disease
Ataxia, Inability to walk, Spasticity, Athetosis OMIM:604369
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... OMIM:619910
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Stroke, Abnormal autonomic nervous s... ORPHA:85451
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic regurgitation, Aortic ro... OMIM:609008
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Leukodystrophy, Hypomyelinating, 4
Babinski sign, Progressive spasticity, Choreoathetosis OMIM:612233
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Dystonia OMIM:261640
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aorti... ORPHA:210122
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Hsd10 Mitochondrial Disease
Sensorineural hearing impairment, Optic atrophy, Choreoathetosis, Spasticity, Spastic tetraplegia OMIM:300438
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... ORPHA:1120
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... ORPHA:3426
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Babinski sign, Frequent falls, Choreoathetosis, Limb dystonia OMIM:619054
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, Choreoathetosis OMIM:617519
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Restrictive ventilatory defect ORPHA:369847
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Optic disc pallor, Perimembranous ventricular septa... OMIM:619170
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Tracheomalacia, Situs inversus totalis, Pulm... OMIM:202650
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Klippel-Trénaunay Syndrome
Atrial septal defect, Peripheral arteriovenous fistula, Hepatomegaly, Respiratory insufficiency, ... ORPHA:90308
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Arteria lu... OMIM:212093
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Myoclonus, Choreoathetosis, Spasticity OMIM:617065
Myoclonus, Intractable, Neonatal
Myoclonus, Chorea, Athetosis OMIM:617235
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Diamond-Blackfan Anemia 7
Ventricular septal defect, Patent ductus arteriosus, Secundum atrial septal defect, Tetralogy of ... OMIM:612562
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Chorea, Athetosis OMIM:309541
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Dysmetria, Choreoathetosis, Spasticity, Dystonia OMIM:618088
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonic stenosis, Single ventricle, Respira... OMIM:601186
Spastic Paraplegia 86, Autosomal Recessive
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis OMIM:619735
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:609029
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Pettigrew Syndrome
Sensorineural hearing impairment, High-frequency hearing impairment, Choreoathetosis, Gait ataxia... OMIM:304340
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Choreoathetosis, Spasticity, Tetraplegia OMIM:616034
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Abnormality of extrapyramidal motor function, Ocu... ORPHA:13
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Paroxysmal atrial tachycardia, Ventricular septal defect, Optic atr... ORPHA:49827
Developmental And Epileptic Encephalopathy 44
Dystonia, Spasticity, Athetosis OMIM:617132
Cardiomyopathy, Dilated, 2E
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Kagami-Ogata Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ventricular septal defect, P... OMIM:608149
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Arrhythmia, Cardiomegaly, Cardiomyopathy, Atriovent... ORPHA:85447
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, V... OMIM:619343
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:615802
Dystonia 9
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Prolonged prothrombin time, Coarctation of aorta OMIM:616559
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
8Q12 Microduplication Syndrome
Ventricular septal defect, Abnormal cranial nerve morphology, Atrial septal defect ORPHA:228399
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Neurodevelopmental Disorder With Dystonia And Seizures
Dystonia, Spastic tetraplegia, Chorea, Athetosis OMIM:619922
Tyshchenko Syndrome
Ventricular septal defect, Sleep apnea, Pulmonic stenosis, Atrial septal defect OMIM:615102
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic neuropathy, Abnormal pyramidal sign, Optic atrophy, Choreoathetosis, Hearing impairment, Lo... OMIM:618249
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
3-Methylglutaconic Aciduria, Type Ix
Hypertonia, Optic atrophy, Choreoathetosis, Spasticity, Clonus OMIM:617698
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallo... OMIM:610205
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Aganglionic megacolon, Abnormal lung lo... OMIM:156810
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Inability to walk, Intention tremor, Abnormal pyramidal sign, Progressi... OMIM:312080
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Tetralogy of ... OMIM:190685
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Abnormal autonomic nervous system physiology, Tachycardia, Ventricular sept... OMIM:613870
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Optic atrophy, Choreoathetosis, Spasticity, Dystonia OMIM:617664
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Bruising susceptibility, Pulmonic stenosis, Ventr... OMIM:609942
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Optic atrophy, Tremor, Spastic tetrapl... OMIM:617710
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:139466
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular s... OMIM:306955
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Intellectual Developmental Disorder, Autosomal Recessive 65
Atrial septal defect, Secundum atrial septal defect OMIM:618109
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... OMIM:616564
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:2701
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... OMIM:619317
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Folate Malabsorption, Hereditary
Ataxia, Athetosis OMIM:229050
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tracheomalacia, Tachycardia, Tetr... OMIM:618280
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Babinski sign, Chorea, Choreoathetosis, Spasticity, Low-set ears, Dystonia OMIM:618451
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Hypertension, Secundum atrial septal defect, Recurrent respiratory infections OMIM:619758
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... OMIM:616028
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Secundum atrial septal defect, Hypoplastic l... OMIM:142900
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Myoclonus, Hyperkinetic movements, Stereotypical hand wringi... ORPHA:561854
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Oculorenocerebellar Syndrome
Spastic diplegia, Choreoathetosis OMIM:257970
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Pain insensitivity, Abnormal pyramidal sign, Athetosis, Optic atrophy, Optic disc pallor, Oculomo... OMIM:614388
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Abno... OMIM:265450
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Red... ORPHA:70591
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Sneddon Syndrome
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... OMIM:613355
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Transposition of the great arteries, Paroxysmal supraventricular tachycardia, ... OMIM:617877
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Abnormal left ventricular function, Hepatomegaly, Pulmonic stenosi... OMIM:301056
Hereditary Methemoglobinemia
Hypertonia, Athetosis, Spastic tetraplegia, Spasticity, Limb dystonia ORPHA:621
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia ORPHA:289916
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Carpenter Syndrome 1
Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Optic at... OMIM:201000
Sulfite Oxidase Deficiency, Isolated
Hemiplegia, Hypertonia, Ataxia, Choreoathetosis, Macrotia, Generalized dystonia OMIM:272300
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Inability to walk, Opisthotonus, Parkinsonism, Apraxia, Choreoathetosis, Spasticity, Spastic tetr... OMIM:619653
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... OMIM:601005
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis, Macrotia OMIM:221950
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Respiratory insufficiency, Optic at... OMIM:253800
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Pulmonic stenosis, Mitral regurgitation, Central hypoventilation, Op... ORPHA:70474
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Respiratory failure, Ab... ORPHA:244
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Left sup... OMIM:602782
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Aortic valve stenosis OMIM:143880
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Chorea, Athetosis, Dystonia, Aganglionic megacolon ORPHA:52503
Noonan Syndrome 5
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:611553
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Arrhythmia, Ventricular septal defect, Optic atrophy, Situs inversu... OMIM:249270
Pelizaeus-Merzbacher Disease
Ataxia, Optic atrophy, Gait disturbance, Choreoathetosis, Spasticity, Hearing impairment, Dystonia ORPHA:702
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Free Sialic Acid Storage Disease
Ataxia, Abnormal pyramidal sign, Athetosis, Gait disturbance, Spasticity, Oculomotor apraxia ORPHA:834
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
3P25.3 Microdeletion Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Cor... ORPHA:435638
Ogden Syndrome
Apnea, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly, Torsade de... OMIM:300855
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Respiratory insufficiency due to muscle weakness OMIM:616816
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Choreoathetosis, Dystonia OMIM:618416
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Pseudoxanthoma Elasticum
Mitral stenosis, Angina pectoris, Intermittent claudication, Stroke, Restrictive cardiomyopathy, ... OMIM:264800
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... OMIM:614954
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619951
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Pyruvate Dehydrogenase E2 Deficiency
Oculomotor apraxia, Ataxia, Choreoathetosis, Paroxysmal dystonia OMIM:245348
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctat... OMIM:605275
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Pyruvate Dehydrogenase E1-Alpha Deficiency
Choreoathetosis, Dystonia, Episodic ataxia OMIM:312170
Woods Syndrome
Ventricular septal defect, Optic atrophy OMIM:615236
Combined Oxidative Phosphorylation Defect Type 13
Sensorineural hearing impairment, Decreased nerve conduction velocity, Choreoathetosis, Limb dyst... ORPHA:319514
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Asthma, Atrial septal defect, Aortic valve stenosis, Dysplastic p... OMIM:601808
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Chorea, Optic atrophy, Tremor, Difficulty walking, Choreoathetosis, Frequent ... OMIM:615673
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of ... OMIM:115470
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Keutel Syndrome
Ventricular septal defect, Optic atrophy, Recurrent sinusitis, Pulmonary artery stenosis, Pulmona... ORPHA:85202
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Bundle branch block, Atrio... ORPHA:500
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality of the pulmonary artery ORPHA:1131
Arboleda-Tham Syndrome
Respiratory distress, Secundum atrial septal defect, Atrial septal defect, Pulmonic stenosis, Ven... OMIM:616268
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia ORPHA:96129
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Cough, Ventricular septal defect,... ORPHA:96170
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia OMIM:233910
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Tetraparesis, Optic atrophy, Choreoathetosis ORPHA:27
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Mitochondrial Complex I Deficiency, Nuclear Type 26
Hearing impairment, Limb hypertonia, Choreoathetosis, Dystonia OMIM:618247
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonic stenosis, Aortic valve stenosis ORPHA:75496
Noonan Syndrome 4
Atrial septal defect, Bruising susceptibility, Abnormal bleeding, Pulmonic stenosis, Ventricular ... OMIM:610733
Jaberi-Elahi Syndrome
Broad-based gait, Protruding ear, Inability to walk, Dysmetria, Appendicular spasticity, Optic at... OMIM:617988
X-Linked Intellectual Disability, Schimke Type
Hearing impairment, Choreoathetosis, Spasticity ORPHA:85285
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Frank-Ter Haar Syndrome
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Ventricular s... OMIM:249420
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Legius Syndrome
Pulmonic stenosis, Vestibular schwannoma, Paroxysmal atrial tachycardia, Mitral valve prolapse, N... ORPHA:137605
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly OMIM:614876
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Head tremor, Spas... ORPHA:95433
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... OMIM:617478
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Microhydranencephaly
Macrotia, Spastic tetraplegia, Athetosis OMIM:605013
Noonan Syndrome 7
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:613706
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Neonatal death, Ventricular septal defect, Respiratory failure, Truncu... OMIM:228940
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Optic atrophy, Apnea, Hypertrophic cardiomyopathy ORPHA:255241
Alg9-Cdg
Asthma, Atrial septal defect, Tricuspid regurgitation, Hepatomegaly, Abnormal lung lobation, Vent... ORPHA:79328
Diamond-Blackfan Anemia 6
Atrial septal defect, Tracheomalacia, Mitral regurgitation, Tetralogy of Fallot, Ventricular sept... OMIM:612561
Chops Syndrome
Sleep apnea, Anomalous pulmonary venous return, Tracheomalacia, Aspiration pneumonia, Splenomegal... OMIM:616368
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Abnormal cardiac septum morphology, Patent ductus arteriosus, Optic atrophy OMIM:616737
Noonan Syndrome 6
Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:613224
Snijders Blok-Fisher Syndrome
Protruding ear, Opisthotonus, Cupped ear, Choreoathetosis, Spasticity OMIM:618604
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3071
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... ORPHA:980
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... OMIM:132900
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Apneic episodes in infancy, Patent ductus arteriosus, Patent foramen ovale,... OMIM:619967
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Tricuspid regurgitation, Pulmonic ste... OMIM:617506
Hsd10 Disease, Infantile Type
Loss of ambulation, Poor coordination, Spastic diplegia, Hyperkinetic movements, Optic atrophy, C... ORPHA:391428
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Respiratory insufficiency, Reduced vital capacity, Cardiomegaly, Congestive heart failure OMIM:618654
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Palpitatio... ORPHA:2847
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Stroke, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac de... OMIM:115197
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Patent foramen ovale OMIM:618914
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Indomethacin Embryofetopathy
Ventricular septal defect, Respiratory insufficiency, Atrial septal defect, Cardiomyopathy ORPHA:1909
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Sensorineural hearing impairment, In... ORPHA:52368
Developmental And Epileptic Encephalopathy 1
Hypertonia, Erratic myoclonus, Abnormal pyramidal sign, Choreoathetosis, Spastic tetraparesis, Dy... OMIM:308350
Ring Chromosome 12 Syndrome
Secundum atrial septal defect ORPHA:1439
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Ataxia, Cochlear degeneration OMIM:271250
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:2412
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Respiratory insufficiency, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hyper... OMIM:617021
Craniofaciofrontodigital Syndrome
Respiratory distress, Stroke, Anomalous branches of internal carotid artery, Ventricular septal d... ORPHA:363705
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Patent ductus arteriosus, Atrioventricular canal defect ORPHA:276413
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis, Heart murmur OMIM:617600
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity OMIM:308950
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Hypoxem... ORPHA:284979
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetra... ORPHA:2255
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect, Recurrent respiratory infections OMIM:615508
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Choreoathetosis, Dystonia ORPHA:79312
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Monosomy 13Q34
Pulmonic stenosis, Hematochezia, Common atrium, Epistaxis, Prolonged prothrombin time ORPHA:96168
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent... OMIM:106700
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Oculogy... OMIM:608643
Grange Syndrome
Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp... ORPHA:79094
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Tricuspid regurgitation, Optic disc coloboma, Ventricular septal defect... ORPHA:261337
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... ORPHA:99050
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Ataxia, Low-set ears, Opisthotonus, Myoclonus, Optic atrophy, Spastic paraplegia, Cho... OMIM:614969
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... OMIM:105210
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... OMIM:193400
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Babinski sign, Abnormal pyramidal sign, Head tremor, Somatic sensory dysf... ORPHA:64753
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Pyruvate Dehydrogenase Deficiency
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Gait disturbance, Tremor, Choreoathetosis, Spast... ORPHA:765
Episodic Ataxia Type 1
Hypertonia, Clumsiness, Tip-toe gait, Poor coordination, Choreoathetosis, Vertigo ORPHA:37612
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Abnormal cranial nerve morphology ORPHA:2345
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Cardiac ... OMIM:619534
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Optic atrophy, Patent ductus arteriosus, Patent foramen ovale OMIM:613457
Cap Myopathy
Sinus tachycardia, Central hypoventilation, Mitral valve prolapse, Aortic root aneurysm, Facial p... ORPHA:171881
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... ORPHA:401935
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Optic atrophy, Pa... OMIM:614261
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Pulmo... OMIM:100300
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Bicuspid aortic valve, Atrial septal defect OMIM:617744
Noonan Syndrome 14
Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse, Aortic regurgitation, Hypertro... OMIM:619745
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Atrial septal defect, Optic disc coloboma OMIM:241310
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis, Hyperventilation OMIM:614325
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrioventricular canal defect OMIM:619123
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Respiratory insufficiency, Hepatomegaly ORPHA:1759
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology ORPHA:3405
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Decreased nerve condu... ORPHA:477817
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma OMIM:603641
Cutis Laxa, Autosomal Recessive, Type Iiia
Low-set ears, Macrotia, Athetosis OMIM:219150
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Apn... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Secundum atrial septal defect OMIM:601321
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage OMIM:300049
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Patent... OMIM:277600
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect OMIM:618223
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Filippi Syndrome
Ventricular septal defect, Optic atrophy OMIM:272440
Severe Oculo-Renal-Cerebellar Syndrome
Large earlobe, Spastic diplegia, Optic atrophy, Choreoathetosis, Spasticity, Macrotia ORPHA:2715
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619189
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Charge Syndrome
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Pulmonic sten... OMIM:214800
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Aspiration pneumonia, Left ventricular noncompaction, Left... OMIM:619167
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Cranial ner... ORPHA:268882
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Birk-Landau-Perez Syndrome
Limb ataxia, Limb hypertonia, Optic atrophy, Difficulty walking, Choreoathetosis, Oculomotor apra... OMIM:617595
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia OMIM:616277
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Papilledema, Coarctat... ORPHA:371428
Unilateral Polymicrogyria
Apnea, Stroke, Pulmonary arteriovenous malformation, Giant somatosensory evoked potentials, Epist... ORPHA:268943
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Athetosis, Spasticity, Dystonia, Hearing impairment, Slurred speech ORPHA:357058
Allan-Herndon-Dudley Syndrome
Ataxia, Ankle clonus, Limb hypertonia, Babinski sign, Abnormal pyramidal sign, Choreoathetosis, S... ORPHA:59
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:610759
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Angioosteohypertrophic Syndrome
Tricuspid valve prolapse, Telangiectasia of the skin, Peripheral arteriovenous fistula, Pulmonary... ORPHA:2346
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
Mitral Valve Prolapse 1
Mitral valve prolapse, Mitral regurgitation OMIM:157700
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Pulmonary arterial hyperte... ORPHA:2396
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, ... OMIM:616166
Viss Syndrome
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... OMIM:619472
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Cardiofaciocutaneous Syndrome
Atrial septal defect, Pulmonic stenosis, Optic atrophy, Abnormal heart valve morphology, Hypertro... ORPHA:1340
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Bruising susceptibility, Arrhythmia, Mitral valve prolapse, Gastrointestinal hemorrhage, ... ORPHA:230839
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Hepatomegaly, Tricuspid stenosis, Mitral regurgitation, R... OMIM:614185
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:2184
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pul... ORPHA:1166
Pantothenate Kinase-Associated Neurodegeneration
Leg dystonia, Loss of ambulation, Tip-toe gait, Intention tremor, Parkinsonism, Rigidity, Craniof... ORPHA:157850
Microphthalmia, Syndromic 12
Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium OMIM:615524
Kabuki Syndrome 2
Pulmonic stenosis, Atrial septal defect, Coarctation of aorta, Atrioventricular canal defect OMIM:300867
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Brachial plexus neuropathy, Reduced left ventricular ejection frac... ORPHA:268
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Splenomegaly, Pulmonic stenosis, Optic nerve dysplasia, Hypertrophic cardio... OMIM:115150
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Chorea, Athetosis, Macrotia OMIM:619435
Aica-Ribosuria Due To Atic Deficiency
Optic atrophy, Atrial septal defect OMIM:608688
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Ventricular septal defect, Hyperventilation, Bradycardia, Persistent left superior v... OMIM:618775
Dysosteosclerosis
Ventricular septal defect, Optic atrophy, Abnormal cranial nerve morphology ORPHA:1782
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Transaldolase Deficiency
Atrial septal defect, Hepatosplenomegaly, Coarctation of aorta, Biventricular hypertrophy, Abnorm... ORPHA:101028
Koolen-De Vries Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:610443
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Recurrent viral upper respiratory tract infections OMIM:616898
Mosaic Trisomy 20
Ventricular septal defect, Abnormal mitral valve morphology, Dysplastic tricuspid valve ORPHA:1724
Niemann-Pick Disease, Type A
Inability to walk, Rigidity, Spasticity, Athetosis OMIM:257200
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Rigidity, Chorea, Athetosis, Tremor, Limb dystonia, Poor motor coordination, Vertigo, Dys... ORPHA:25
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... ORPHA:324410
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Stroke... ORPHA:75249
Extracranial Carotid Artery Aneurysm
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