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Gene: Rbpms MGI:1334446

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Gene Summary

Name:
RNA binding protein gene with multiple splicing
Synonyms:
2700019M19Rik,  hermes,  2010300K22Rik

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Rbpmsem1(IMPC)H HET Early adult 5.39×10-05
preweaning lethality, complete penetrance Rbpmsem1(IMPC)H HOM   Early adult 0.00

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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.

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MicroCT E18.5

Embryo reconstruction

4 Images

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Echo

M-Mode Images

64 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

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Human diseases caused by Rbpms 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 Rbpms by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... ORPHA:1209
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... OMIM:618254
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... OMIM:611556
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... ORPHA:860
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Aort... OMIM:615779
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Respiratory insufficiency due to muscle weakness, Intrinsic hand muscle atrophy, Cardiomyopathy, ... ORPHA:63273
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardi... ORPHA:91130
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... OMIM:616501
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Patent ductus arteriosus, Weak grip, Distal amyotrophy, Distal uppe... OMIM:619519
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Abnormal cardiac septu... OMIM:601612
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Cutis marmorata OMIM:615297
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Familial Aortic Dissection
Aortic regurgitation, Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent d... ORPHA:229
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... OMIM:620236
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Scimitar Syndrome
Respiratory distress, Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Coug... ORPHA:185
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest ORPHA:34587
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... OMIM:600884
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula... ORPHA:2041
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition... ORPHA:1461
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure,... ORPHA:60041
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Si... OMIM:618300
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotroph... OMIM:253300
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, R... ORPHA:171445
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency OMIM:615917
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... OMIM:109730
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chronic pulmon... ORPHA:2414
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Respiratory insufficiency, Cardiomyopathy, Myopathy, Suprav... OMIM:255100
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Cor pulmonale, Respiratory failure, Cough OMIM:263000
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... OMIM:612877
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Congenital Myopathy 11
Neonatal respiratory distress, Patent ductus arteriosus, Apneic episodes in infancy, Atrial septa... OMIM:619967
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... ORPHA:980
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Respiratory insufficiency, Global systolic dysfunction, Cardiomyopathy, Limb muscle weak... OMIM:606842
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:612999
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart... ORPHA:3426
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Respiratory insufficiency ORPHA:1909
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Right ventricular failure, Reduced forced vital capacity, Nonpr... ORPHA:2302
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do... ORPHA:3304
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea... ORPHA:2038
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Premature graying of hair, Distal lower limb muscl... OMIM:619903
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... ORPHA:399058
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Respiratory insufficiency... OMIM:300696
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent duc... ORPHA:2847
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Myopathy, Myofibrillar, 1
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, EMG: myop... OMIM:601419
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... OMIM:608758
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arterios... OMIM:601005
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Stroke, Cerebral ischemia ORPHA:3325
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Perching Syndrome
Respiratory distress, Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Respiratory insufficiency, ... OMIM:615352
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cyanosis, Cardiomega... ORPHA:555874
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... OMIM:115195
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Congenital Tracheomalacia
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... ORPHA:95430
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Patent ductus ar... OMIM:616867
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Respiratory insuf... OMIM:615731
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Pulmonary embolism OMIM:176860
Congenital Myopathy 24
Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Card... OMIM:617336
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Myopathy, Myofibrillar, 2
Orthopnea, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weakness, Quadric... OMIM:608810
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Anomalous origin of left coronary artery from the pulmonary arter... ORPHA:2326
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Mitral regurgitation, Pulm... OMIM:615355
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy, Neonatal death OMIM:617184
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Dyspnea, Limb-girdle muscle wea... ORPHA:86812
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... ORPHA:90308
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Cyanosis, Internal hemorrhage, Prolonged prothrombin time, Gingiv... ORPHA:335
Dpm3-Cdg
Dilated cardiomyopathy, Stroke-like episode, Calf muscle hypertrophy, Muscular dystrophy, Pelvic ... ORPHA:263494
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventricular noncompac... OMIM:619167
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Patent ductus arteriosu... ORPHA:98892
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Reduced vital capacity, Calf muscle pseudohypertrophy, Centrally nucleated skel... OMIM:608358
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... OMIM:613834
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, Abnormal hemidiaphragm morphology, ... ORPHA:2257
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch... OMIM:617478
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect OMIM:614876
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Neonatal respiratory distress ORPHA:254857
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... OMIM:300580
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618243
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Neonatal respiratory distress, Pulmonary arterial hypertension OMIM:619003
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... OMIM:612098
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Congenital Gerbode Defect
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... ORPHA:99095
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Skeletal muscle atrophy, Facial palsy, Triceps weakn... ORPHA:98913
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Atrial situs ambiguous, Abnormal atrial arrangement, Productive co... ORPHA:244
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Dilatation of the ventricular c... OMIM:615745
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... OMIM:616866
Pulmonary Capillary Hemangiomatosis
Cyanosis, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pericardia... ORPHA:199241
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Apnea OMIM:618236
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Flexion contracture, In... OMIM:300718
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Calf muscle hypertrophy,... ORPHA:98896
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial palsy, Cardiogenic... OMIM:619424
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Pentasomy X
Patent ductus arteriosus, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:11
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricula... ORPHA:75249
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Myofibrillar myopathy, Reduced forced vital capacity, Respiratory... OMIM:612954
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... OMIM:618316
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... OMIM:601927
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Respiratory failure, ... ORPHA:171433
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... OMIM:212093
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Meacham Syndrome
Stillbirth, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right ... OMIM:608978
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar... ORPHA:1120
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Reduced subcutaneous adipose tissue, Dilated cardiomyopathy OMIM:618097
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Asthma, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthro... OMIM:614262
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... ORPHA:3287
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Increased muscle lipid content, Myopathy OMIM:610717
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:210122
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,... ORPHA:171442
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Myopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618237
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... OMIM:613155
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency,... OMIM:617021
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Ventricular septal defect, Increased ... OMIM:616816
Muscular Dystrophy, Duchenne Type
Hypoventilation, Abnormal EKG, Calf muscle pseudohypertrophy, Respiratory insufficiency due to mu... OMIM:310200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Myopathy ORPHA:26792
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... OMIM:249270
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup... ORPHA:97214
Childhood-Onset Nemaline Myopathy
Reduced vital capacity, Scapular winging, Respiratory insufficiency due to muscle weakness, Flexi... ORPHA:171439
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Palmoplantar cutis laxa OMIM:618499
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Joint contracture, Flexion contracture OMIM:608540
Glycogen Storage Disease Iii
Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy, Myopathy OMIM:232400
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... OMIM:270100
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm ORPHA:261102
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Congenital Rubella Syndrome
Atrial septal defect, Jaundice, Patent ductus arteriosus, Ventricular septal defect ORPHA:290
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Hemochromatosis, Type 2A
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis OMIM:619433
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... OMIM:619909
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal... OMIM:265120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Patent ductus arteriosus OMIM:122430
Polyarteritis Nodosa
Pericarditis, Cutis marmorata, Raynaud phenomenon, Erythema, Cardiomyopathy, Hypertension ORPHA:767
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Respiratory insuffic... ORPHA:1842
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect, Cutis marmorata OMIM:612938
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Acute Interstitial Pneumonia
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... ORPHA:79126
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Distal Deletion 17Q
Patent ductus arteriosus, Abnormal cardiac septum morphology, Respiratory insufficiency ORPHA:1597
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... ORPHA:3097
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal defect, Patent d... OMIM:617397
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Dextrocardia ORPHA:2863
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... ORPHA:79
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respirator... ORPHA:70587
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent... OMIM:618164
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... ORPHA:49827
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormal a... ORPHA:1166
Ciliary Dyskinesia, Primary, 30
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Decreased nasal nitric o... OMIM:616037
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial i... ORPHA:183
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus, Flexion contracture OMIM:618658
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology ORPHA:2412
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Respiratory insufficiency due to m... ORPHA:329336
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:2519
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Rhabdomyolysis, Ventricular tachycardia, Respiratory insufficien... ORPHA:159
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Hypotension, Atrial septal def... OMIM:615668
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Respiratory failure, ... OMIM:607598
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... OMIM:601186
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Cutis marmorata, Ventricular septal defect, Portal hypertension, Truncus... OMIM:616589
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Tetralogy o... ORPHA:251071
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis OMIM:618624
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Atrial septal defect, Pulmonary arteri... OMIM:614857
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Achalasia, Acrocyanosis ORPHA:2400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Patent ductus arteriosus, Hypoplastic left heart OMIM:617661
Adult-Onset Distal Myopathy Due To Vcp Mutation
Reduced vital capacity, Scapular winging, Abnormality of the musculature of the lower limbs, Fatt... ORPHA:329478
Transaldolase Deficiency
Ventricular septal defect, Asthma, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta... OMIM:606003
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, EMG: myopathic abnormalities, Respiratory failure, Nocturnal hypoventilation, Hypertroph... OMIM:620326
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... OMIM:300887
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Poor wound healing, Dilated cardiomyopathy, Cardiomyopathy, Mitral re... OMIM:212112
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy OMIM:618234
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect OMIM:619769
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea OMIM:610992
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Apnea OMIM:616896
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Hurler-Scheie Syndrome
Cardiomyopathy, Rhinitis, Abnormal heart valve morphology ORPHA:93476
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Heart murmur, Abnormal heart morphology ORPHA:1867
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Prolonged prothrombin time, Jaundice OMIM:616483
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Patent ductus arteriosus, Knee flexion contractu... OMIM:608799
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous... ORPHA:745
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Apnea, Respiratory insufficiency, Left ventricular hypertrophy, Hypertro... OMIM:618228
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Patent ductus arteriosus OMIM:610498
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Hemochromatosis, Type 3
Cardiomyopathy, Purpura OMIM:604250
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618378
Weill-Marchesani Syndrome
Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Kagami-Ogata Syndrome
Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Flexion contracture, Pulmon... OMIM:608149
Carnitine Deficiency, Systemic Primary
Respiratory distress, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitatio... OMIM:212140
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Prune Belly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... ORPHA:2970
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Char Syndrome
Patent ductus arteriosus OMIM:169100
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:610655
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary art... OMIM:265400
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Neonatal respiratory distress, Facial hypotonia, First degree atrioventricul... ORPHA:589821
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, Pulmonary arter... OMIM:301056
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Neonatal respiratory distress, Tricuspid regurgitation, Ventricular septal defect, Scapular wingi... OMIM:618870
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus ORPHA:1952
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Lethal Faciocardiomelic Dysplasia
Patent ductus arteriosus, Hypoplastic left heart ORPHA:1972
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Neonatal a... ORPHA:141127
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... ORPHA:254886
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertension, Ischemic st... ORPHA:280679
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Hec Syndrome
Cardiomyopathy, Arrhythmia, Respiratory insufficiency, Endocardial fibroelastosis ORPHA:2119
Lambert Syndrome
Jaundice, Ventricular septal defect ORPHA:1296
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red muscle fibers, Heart mu... OMIM:615418
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Analbuminemia
Patent ductus arteriosus, Hypotension OMIM:616000
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... ORPHA:555877
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc... ORPHA:275766
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension... ORPHA:1349
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... ORPHA:363444
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Apnea, Bradycardia, Cardiac arrest OMIM:618235
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Myopathy, Pulmonary arterial hyp... OMIM:212350
Proximal Myopathy With Extrapyramidal Signs
Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam... ORPHA:401768
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function OMIM:619492
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... OMIM:208000
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Alg1-Cdg
Cardiomyopathy, Respiratory failure, Abnormal heart morphology ORPHA:79327
Waardenburg Syndrome Type 3
Tracheomalacia, Atrial septal defect, Acrocyanosis, Camptodactyly of finger ORPHA:896
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Congenital Disorder Of Glycosylation, Type Ih
Neonatal death, Patent ductus arteriosus, Perimembranous ventricular septal defect, Camptodactyly OMIM:608104
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ... OMIM:615959
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Patent ductus arteriosus, Respiratory failure, Atrial septal defect, Pate... OMIM:620327
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Thanatophoric Dysplasia Type 2
Atrial septal defect, Patent ductus arteriosus, Respiratory insufficiency ORPHA:93274
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Respiratory insufficiency ORPHA:2655
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric... OMIM:265380
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98853
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... OMIM:612582
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet... ORPHA:163956
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus OMIM:615147
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... OMIM:610913
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... ORPHA:88630
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly OMIM:614846
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies OMIM:616549
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Respiratory failure, Hy... ORPHA:70472
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Acrocyanosis, Intern... ORPHA:49566
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:600001
Emanuel Syndrome
Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Pate... OMIM:609029
Giant Cell Arteritis
Pericarditis, Aortic dissection, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, ... ORPHA:397
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Breath-Holding Spells
Cyanosis OMIM:607578
Lymphatic Malformation 13
Patent ductus arteriosus, Mitral regurgitation, Neonatal death, Atrial septal defect, Pulmonary a... OMIM:620244
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo... ORPHA:521411
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left... OMIM:607155
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618241
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Stroke ORPHA:79312
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteri... OMIM:612863
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff... ORPHA:363623
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... ORPHA:435638
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus ORPHA:1516
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Tachycardia, Atrial septal defect, Cor triatrium sinister, Ventricular s... OMIM:618280
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductu... OMIM:612562
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow... OMIM:602782
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aort... OMIM:267010
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy OMIM:246900
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Asthma, Patent foramen ovale, Epistaxis ORPHA:293939
American Trypanosomiasis
Dyspnea, Myocarditis, Congestive heart failure, Cardiomyopathy, Cough, Arrhythmia, Achalasia ORPHA:3386
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect, Recurrent ... ORPHA:85202
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
Cirrhotic Cardiomyopathy
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargeme... ORPHA:57777
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Dyspnea, Increased muscle lipid content, Abnormality of the calf musculature, Ca... ORPHA:565612
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Prolonged QT interval, Tachycardia, Exercise-induced rhabdomyolysis, Ventri... ORPHA:26793
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Jaundice ORPHA:1667
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Noonan Syndrome 9
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus, Apnea OMIM:619797
Neuraminidase Deficiency
Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Cardiomyopathy, Cherry red spot of... OMIM:256550
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:98863
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Right ventricular failure, Increased pulmonary vascular res... ORPHA:60025
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Telangiectasia of the skin, Generalized amyotrophy, Telangiectasia ORPHA:79279
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Patent ductus arteriosus, Cardiomyopathy, Ab... OMIM:217980
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Neonatal respiratory distress, Patent ductus arteriosus, Ventricular septal... ORPHA:457193
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart failure, Flexion c... ORPHA:1194
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Fetal Encasement Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Respiratory arrest, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Jaundice, Patent foramen ovale, Petechiae OMIM:251290
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Limb-girdle muscle weakness, Myopathy ORPHA:1215
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy, Prolonged neonatal jaundice OMIM:618437
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Arrhythmia, Tet... OMIM:153400
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Apnea, Inspiratory stridor OMIM:600721
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... OMIM:615415
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy, Respiratory insufficiency ORPHA:324525
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effusion OMIM:235200
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion OMIM:614702
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Prematurely aged appearance, Poor wound healing,... OMIM:123700
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO, Fo... ORPHA:747
Hepatorenocardiac Degenerative Fibrosis
Hypertrophic cardiomyopathy, Jaundice, Portal hypertension OMIM:619902
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... OMIM:618223
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy... OMIM:300963
6P22 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:251046
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614576
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem... ORPHA:743
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
17Q23.1Q23.2 Microdeletion Syndrome
Dyspnea, Patent ductus arteriosus, Congenital contracture, Atrial septal defect, Pulmonary arteri... ORPHA:261279
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Left ventricular noncompaction cardiomyopathy, Central hypoventilation, Cardiac arrest, Ne... OMIM:620167
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter... ORPHA:354
Combined Oxidative Phosphorylation Deficiency 9
Dyspnea, Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis OMIM:231530
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-r... OMIM:258450
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Tachypnea, Hepatocellular ne... OMIM:201475
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Cutis marmorata OMIM:300590
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy OMIM:300438
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dil... ORPHA:367
Emanuel Syndrome
Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma... ORPHA:96170
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... ORPHA:2331
Glycogen Storage Disease Iv
Cardiomyopathy, Arthrogryposis multiplex congenita, Portal hypertension, Skeletal muscle atrophy OMIM:232500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... OMIM:619705
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... OMIM:610978
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra... ORPHA:2255
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition... OMIM:201000
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Thanatophoric Dysplasia Type 1
Atrial septal defect, Excessive wrinkled skin, Patent ductus arteriosus, Respiratory insufficiency ORPHA:1860
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Camptodactyly of finger ORPHA:2547
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Respiratory failure OMIM:619386
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function ORPHA:2394
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... ORPHA:308552
Meckel Syndrome 14
Tricuspid regurgitation, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, ... OMIM:619879
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Combined Oxidative Phosphorylation Deficiency 3
Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypertrophi... OMIM:610505
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Restrictive ventilatory defect, Cardiomyopathy,... OMIM:203300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Cutis marmorata OMIM:602501
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent duct... ORPHA:505248
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect, Recurrent pneumonia, Recurrent aspiration pn... OMIM:300472
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:3378
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... OMIM:613309
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy OMIM:618839
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Facial palsy ORPHA:772
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Congestive heart failure, Patent ductus arteriosus, Recurrent pneumonia, Fl... OMIM:617303
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Neonatal respiratory distress OMIM:618961
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Mitr... OMIM:603387
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Trisomy 17P
Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Macroglossia, Hypoplastic... ORPHA:261290
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Respiratory failure, Cardiomy... ORPHA:158687
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... OMIM:244300
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Respiratory insufficiency ORPHA:544469
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Asthma, Pate... OMIM:601808
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... OMIM:142900
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2nd toe, Abnormal car... ORPHA:2712
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscl... OMIM:604377
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Recurrent pneumonia, Ventricular septal defect OMIM:616651
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f... OMIM:614299
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy, Erythema OMIM:608068
Tetrasomy 5P
Respiratory distress, Cyanosis, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wal... ORPHA:3309
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... OMIM:158170
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Respiratory insufficiency ORPHA:27
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata OMIM:613398
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Coarctation of the descending a... ORPHA:79321
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, C... OMIM:610921
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... ORPHA:79083
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Stroke OMIM:611126
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke ORPHA:268943
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Respiratory insufficiency, Car... ORPHA:746
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger, Bradycardia, Atrioventricular block OMIM:614407
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery st... ORPHA:96167
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... ORPHA:1926
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Elbow contracture, Asthma, Patent ductus arteriosus, Knee flexion contracture,... OMIM:618162
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Juvenile Polyposis Of Infancy
Abnormal bleeding, Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morpholo... ORPHA:79076
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Dy... ORPHA:85443
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Dyspnea, Congestive heart failure, Rhabdomyolysis, Car... ORPHA:26791
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy OMIM:619046
Trisomy 1Q
Patent ductus arteriosus, Ventricular septal defect, Camptodactyly of finger, Congenital diaphrag... ORPHA:261344
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Congenital diaphra... OMIM:313850
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Camptodactyly, Atrial sept... OMIM:301039
Odontochondrodysplasia
Respiratory distress, Patent ductus arteriosus ORPHA:166272
Chops Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiratio... OMIM:616368
Toriello-Carey Syndrome
Neonatal respiratory distress, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Ab... ORPHA:3338
Propionic Acidemia
Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Limb hypertonia OMIM:606054
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Limb hypertonia OMIM:617190
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture, Apnea, Respiratory insufficiency OMIM:614462
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Respiratory failure, Stillbirth, Myopathy, Neonatal death OMIM:614922
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta OMIM:300514
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Distal amyotrophy OMIM:617183
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Patent ductus arteriosus OMIM:615398
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Pulmonary artery atresia OMIM:620113
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Bronchiectasis OMIM:620184
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea, Dilated card... OMIM:614921
Esophageal Atresia
Respiratory distress, Cyanosis, Ventricular septal defect, Episodic respiratory distress, Chronic... ORPHA:1199
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Prematurely aged appearance, Pulmonary artery stenos... ORPHA:3342
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy ORPHA:369
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Mcleod Syndrome
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy OMIM:300842
Woods Syndrome
Ventricular septal defect OMIM:615236
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619648
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus ORPHA:2123
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge... OMIM:117550
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Mgat2-Cdg
Respiratory distress, Abnormal bleeding, Ventricular septal defect, Patent ductus arteriosus, Abn... ORPHA:79329
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring,... ORPHA:90051
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Hypertrophic cardiomyopathy, Brady... ORPHA:330001
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Apnea, Patent ductus arteriosus, Flexion contractu... ORPHA:17
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis, Inspiratory stridor OMIM:207950
Distal Triplication 15Q
Patent ductus arteriosus, Flexion contracture, Hypoplastic aortic arch, Abnormal heart morphology... ORPHA:314588
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:65286
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... ORPHA:1596
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus ORPHA:171839
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Patent ductus arteriosus, Facial hypotonia OMIM:618659
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
De Barsy Syndrome
Decreased muscle mass, Ventricular septal defect, Progeroid facial appearance, Patent ductus arte... ORPHA:2962
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypertrophic cardiomyopathy OMIM:618835
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Angiokeratoma ... OMIM:230500
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Achilles tendon contracture, Patent ductus arteriosus, Congenita... ORPHA:363528
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... OMIM:249420
Ssr4-Cdg
Patent ductus arteriosus ORPHA:370927
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... OMIM:164310
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Facial palsy, Congestiv... ORPHA:31826
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Cutis marmorata OMIM:609757
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Mitochondrial Complex I Deficiency, Nuclear Type 29
Dyspnea, Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology OMIM:618250
Fucosidosis
Decreased muscle mass, Acrocyanosis, Vascular skin abnormality, Cardiomegaly ORPHA:349
Primary Hyperoxaluria
Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten... ORPHA:416
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Neonatal respiratory distress OMIM:619053
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... OMIM:612541
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Limb hypertonia OMIM:617710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Respir... OMIM:253800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin lesions, Tel... ORPHA:247691
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Cutis marmorata, Bicuspid aortic valve, Patent ductus arteriosus, Pulm... OMIM:610759
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... ORPHA:258
Prune Belly Syndrome
Patent ductus arteriosus, Aplasia of the abdominal wall musculature OMIM:100100
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Cyanosis, Apnea, Ragged-red muscle fibers, Concentric hypertrophic cardi... OMIM:252010
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature OMIM:201470
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Right ventr... OMIM:619472
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Accelerated atherosclerosis, Abnormal atrioventricular condu... ORPHA:280365
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... ORPHA:370959
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Transposition of the great arteries, Neonatal death, Atrioventricular canal defect,... OMIM:314390
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Macroglossia, Patent ductus arteriosus, Camptodactyly ORPHA:397709
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Filippi Syndrome
Ventricular septal defect OMIM:272440
Blepharophimosis-Impaired Intellectual Development Syndrome
Patent ductus arteriosus, Recurrent pneumonia, Flexion contracture OMIM:619293
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Patent ductus arteriosus, Recurrent pneumonia, Patent foramen ovale OMIM:607143
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ... ORPHA:740
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Noonan Syndrome 4
Abnormal bleeding, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertroph... OMIM:610733
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Asthma, Patent ductus arteriosus after birth at term, Atria... ORPHA:251061
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery stenosis, Joint... OMIM:280000
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... OMIM:618494
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Generalized Arterial Calcification Of Infancy
Respiratory distress, Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Medial calcif... ORPHA:51608
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... OMIM:617506
Lateral Meningocele Syndrome
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus... OMIM:130720
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... OMIM:605676
Isolated Atp Synthase Deficiency
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Mosaic Trisomy 16
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol... ORPHA:1708
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Beta-Thalassemia
Hypertrophic cardiomyopathy, Respiratory insufficiency ORPHA:848
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Hypertrophic cardiomyo... OMIM:618222
Syndromic Diarrhea
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:84064
Refsum Disease
Heart block, Cardiomyopathy, Respiratory insufficiency, Skeletal muscle atrophy ORPHA:773
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block OMIM:530000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Ventricular septal defect, Jaundice, Atrial septal defect, Arthrogryposis mult... OMIM:208085
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus ORPHA:1790
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... ORPHA:99776
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... OMIM:610443
Silver-Russell Syndrome 3
Patent ductus arteriosus, Elbow contracture OMIM:616489
Tarp Syndrome
Cyanosis, Apnea, Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava ORPHA:2886
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria... ORPHA:2637
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Tetralogy of Fallot, Abnormal tricus... ORPHA:7
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Abnormal heart morphology ORPHA:254534
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... ORPHA:365
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Camptodactyly of finger, Respiratory ... ORPHA:1488
D-Glyceric Aciduria
Patent ductus arteriosus, Neonatal respiratory distress, Bradycardia OMIM:220120
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... OMIM:616894
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Wolfram Syndrome 1
Cardiomyopathy, Stroke-like episode OMIM:222300
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Respiratory insufficiency, Int... ORPHA:163979
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Erythem... ORPHA:221
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Joint contracture, Patent ductus arteriosus OMIM:618005
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p... ORPHA:70591
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Jaundice, Ventricular septal defect, Right ventricular hypert... OMIM:613404
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventricul... OMIM:619148
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Ivic Syndrome
Patent ductus arteriosus, Small thenar eminence, Pectoralis major hypoplasia, Tetralogy of Fallot... OMIM:147750
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy OMIM:611719
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Opitz Gbbb Syndrome
Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Patent foramen ovale,... ORPHA:2745
Congenital Enterovirus Infection
Respiratory distress, Abnormal bleeding, Pericardial effusion, Myocarditis, Cardiomyopathy, Hypot... ORPHA:292
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation... OMIM:618454
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Hypoplast... OMIM:300166
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Raynaud phenomenon, Cardiomyop... ORPHA:48435
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Respiratory insufficiency, Coarctation of aorta OMIM:617260
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... OMIM:614609
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Recurrent pneumonia ORPHA:353298
Renal-Hepatic-Pancreatic Dysplasia 1
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Neonatal death, Atrial sep... OMIM:208540
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Focal Dermal Hypoplasia
Ventricular septal defect, Telangiectasia of the skin, Congenital diaphragmatic hernia, Diastasis... ORPHA:2092
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Tachycardia, Apnea, Ventricular septal defect, Erythema, Flexion c... OMIM:614653
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... ORPHA:284984
Atelis Syndrome 2
Dyspnea, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic ... OMIM:620185
Wiedemann-Steiner Syndrome
Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct... OMIM:605130
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Patent ductus arteriosus, Dextrocardia OMIM:277380
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Mirage Syndrome
Patent ductus arteriosus, Intracranial hemorrhage, Aspiration pneumonia, Achalasia, Petechiae OMIM:617053
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertrophic cardiomyopathy, Pleura... OMIM:616897
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis, Camptodactyly OMIM:616737
Ogden Syndrome
Apnea, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardi... OMIM:300855
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Scapular winging, Patent ductus arteriosus OMIM:609625
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect OMIM:615879
Congenital Generalized Lipodystrophy
Prominent superficial veins, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia,... ORPHA:528
Ogden Syndrome
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia ORPHA:276432
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Hypertrophic cardiomyopathy OMIM:618810
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Pericardial effusion, Restrictive ventilatory d... ORPHA:2905
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Progeroid facial appearance, Abnormal cardiovascular system physio... ORPHA:79086
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus,... ORPHA:96191
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath... ORPHA:465508
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Achalasia, A... ORPHA:324
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Ascending aorta hypoplasia, Flexion contracture, Facial erythema, Knee flexion contracture... OMIM:619503
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis ORPHA:3165
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Macroglossia,... OMIM:214100
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Portal hypertension, Wheezing, Patent ductus arteriosus, Res... OMIM:620005
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Neonatal respiratory distress, Flexion contracture, Recurrent aspirati... ORPHA:79243
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... OMIM:257920
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Pulmonary artery stenosis, Hyp... OMIM:100300
Seckel Syndrome 9
Ventricular septal defect, Congenital diaphragmatic hernia, Asthma, Pulmonary artery hypoplasia, ... OMIM:616777
Agel Amyloidosis
Facial palsy, Cardiomyopathy, Arrhythmia, Bruising susceptibility, Dermatological manifestations ... ORPHA:85448
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia ORPHA:1908
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... ORPHA:3071
Acrocardiofacial Syndrome
Ventricular septal defect, Truncus arteriosus, Camptodactyly of finger, Coarctation of aorta, Atr... ORPHA:2008
Carpenter Syndrome
Patent ductus arteriosus ORPHA:65759
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Lower limb amyotrophy ORPHA:496790
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Patent ductus arteriosus, Abnormal aortic valve morphology ORPHA:86818
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial septal defect... OMIM:616364
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Amyloidosis, Hereditary, Transthyretin-Related
Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardio... OMIM:105210
Cutis Marmorata Telangiectatica Congenita
Cutis marmorata, Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Arterio... ORPHA:1556
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos... ORPHA:369891
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Patent ductus arteriosus, Hypopnea, Respiratory failure, Bradycardia, Neonatal d... OMIM:617248
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... ORPHA:228116
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent ductus arteriosus, Achilles tendon contracture, Knee flexion contracture, Patent foramen o... OMIM:618076
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, P... OMIM:269860
Fanconi Anemia, Complementation Group F
Atrial septal defect, Patent ductus arteriosus, Pneumonia OMIM:603467
Mucolipidosis Type Ii
Aortic regurgitation, Respiratory failure requiring assisted ventilation, Hip contracture, Abnorm... ORPHA:576
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Erythema,... ORPHA:550
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy ORPHA:5
Distal Deletion 10Q
Atrial septal defect, Facial diplegia, Scapular winging, Patent ductus arteriosus ORPHA:96148
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Alg12-Cdg
Muscular ventricular septal defect, Recurrent pneumonia, Patent ductus arteriosus, Biventricular ... ORPHA:79324
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale OMIM:613457
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Patent ductus arteriosus, Proximal muscle weakness in lower limbs, Aortic r... ORPHA:280633
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac se... ORPHA:96147
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Myopa... OMIM:614557
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Cutis marmor... OMIM:617602
Hyperoxaluria, Primary, Type I
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventr... OMIM:259900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect OMIM:617895
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus OMIM:300048
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Respiratory failure, Muscular dystrophy, Prolonged prothrombin time ORPHA:88618
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:369837
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Apneic episodes in infancy, Ventricular septal defect ORPHA:3078
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Atrial septal defect, Patent ductus arteriosus OMIM:300968
Dravet Syndrome
Cyanotic episode ORPHA:33069
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Varicose veins, Arrhythmia ORPHA:33001
Loeys-Dietz Syndrome
Abnormal bleeding, Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Patent ductus ar... ORPHA:60030
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri... ORPHA:1335
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Limb hypertonia OMIM:619580
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
8P11.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse ORPHA:251066
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Atrial septal defect, Hypertrophic cardiomyopathy, Flexion contracture OMIM:619383
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... OMIM:619351
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... ORPHA:1519
7Q11.23 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia... ORPHA:96121
Ramos-Arroyo Syndrome
Respiratory distress, Atrial septal defect, Patent ductus arteriosus ORPHA:1051
Hardikar Syndrome
Ventricular septal defect, Portal hypertension, Hematemesis, Jaundice, Partial anomalous pulmonar... OMIM:301068
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aspiration pneumo... ORPHA:1465
Vici Syndrome
Cardiomyopathy ORPHA:1493
Pelger-Huet Anomaly
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Mitral valve prolapse OMIM:104350
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Subvalvular aortic stenosis, Atrial septal defect... OMIM:613001
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Cardiomegaly, Raynaud phenomenon, Calcifi... ORPHA:51
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... OMIM:139210
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Tricuspid... OMIM:612289
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Rhabdomyolysis, Renal tubular epithelial necrosis, Cardiomyopathy,... ORPHA:157
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Asthma, Patent ductus arteriosus, Abnormal h... ORPHA:444077
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature OMIM:617239
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch ORPHA:250989
Marshall-Smith Syndrome
Apnea, Ventricular septal defect, Dysplastic aortic valve, Patent ductus arteriosus, Premature ve... OMIM:602535
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... OMIM:617022
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Respiratory failure, Pneumothorax ORPHA:445038
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Noonan Syndrome 1
Abnormal bleeding, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Chy... OMIM:163950
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Diaphragmatic eventration, Ventricular septal defect, Aortopulmona... OMIM:620025
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... ORPHA:1780
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Myasthenia Gravis
Raynaud phenomenon, Dyspnea, Myositis, Acrocyanosis ORPHA:589
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch, Limb hypertonia OMIM:616920
Sweeney-Cox Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Patent ductus a... OMIM:617137
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur ORPHA:166035
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Cardiomegaly, Heart block, Renal tubular epithelial necrosis, Card... ORPHA:228308
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly OMIM:619123
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale OMIM:614961
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... OMIM:220110
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Ventricular septal defect, Apnea, Facial palsy, Patent ductus arteriosus, C... OMIM:300373
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Desmosterolosis
Arthrogryposis multiplex congenita, Patent ductus arteriosus, Joint contracture of the hand, Tota... OMIM:602398
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Patent ductus arterio... ORPHA:464311
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Ventricular septal ... OMIM:615582
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomy... OMIM:615895
Deafness-Craniofacial Syndrome
Patent ductus arteriosus ORPHA:3241
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid dropl... ORPHA:98907
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Reti... ORPHA:567
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Recurrent... ORPHA:209905
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Patent ductus arteriosus, Erythema, Flushing OMIM:259100
9Q33.3Q34.11 Microdeletion Syndrome
Patent ductus arteriosus, Asthma, Epistaxis, Telangiectasia ORPHA:495818
Alagille Syndrome
Ventricular septal defect, Telangiectasia of the skin, Hypertension, Atrial septal defect, Periph... ORPHA:52
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... OMIM:309801
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:617452
Desmosterolosis
Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:614080
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypoxemia, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:2282
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... ORPHA:98908
Pallister-Hall Syndrome
Neonatal death, Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the... OMIM:146510
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... OMIM:619745
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon... OMIM:619534
Kleefstra Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dyspnea, Pulmonary artery stenosis, Coarctation... ORPHA:261494
Fanconi Anemia, Complementation Group U
Unilateral facial palsy, Patent ductus arteriosus OMIM:617247
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... ORPHA:466791
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Mitral regurgitation, Patent foramen ovale ORPHA:457395
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... OMIM:613355
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... OMIM:616449
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Prolonged prothrombin time, Hype... ORPHA:71212
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteri... ORPHA:261337
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing... ORPHA:287
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Cardiomyopathy, Patent ductus arteriosus, Aortic root aneurysm OMIM:135500
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Reduced subcutaneous adipo... OMIM:270450
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Bilateral superior vena ... OMIM:618460
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Shoulder muscle hypoplasia, Patent ductus arteriosus, Prolonged bleedi... OMIM:274000
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial palsy, Dermatograp... OMIM:619480
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Limb joint contracture, Ventricular septal defect ORPHA:505237
Trichohepatoneurodevelopmental Syndrome
Macroglossia, Patent ductus arteriosus, Distal arthrogryposis, Ventricular septal defect OMIM:618268
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... ORPHA:464306
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy, Skeletal muscle st... ORPHA:436271
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Patent ... OMIM:214800
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Urticaria, ... OMIM:154400
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Hypoplastic right heart, Congestive heart failure, Pneumotho... OMIM:617403
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Pericardial effusion, Abnormal subcutaneous fat tissue distribution, Flexion contra... OMIM:212065
Codas Syndrome
Ventricular septal defect ORPHA:1458
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Dyspnea, Cardiomyopathy, Bruising susc... ORPHA:79430
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... OMIM:192430
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Joint contracture of the 5t... ORPHA:363611
Hurler Syndrome
Angina pectoris, Abnormal heart valve morphology, Camptodactyly of finger, Cardiomyopathy, Hypert... ORPHA:93473
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Patent ductus arteriosus, Patent foramen ovale, Abnormal heart morphology ORPHA:177907
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Yellow subcutaneous tissue covered by thin, ... OMIM:256520
Fanconi Anemia
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A... ORPHA:84
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Facial hypotonia, Cardiac conduction abnormality, Abnormal T-wave, C... ORPHA:2131
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Bruising susceptibility, Abnormal heart morphology OMIM:227646
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Respiratory insufficiency, Hypertension, Arrhythmia, Neonatal death, Hypertrophic cardiomyopathy OMIM:614052
Friedreich Ataxia
Hand muscle atrophy, Cardiomyopathy ORPHA:95
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Ventricular septal defect, Premature graying of hair, Cardio... ORPHA:769
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Knobloch Syndrome
Patent ductus arteriosus, Dextrocardia ORPHA:1571
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Pneumonia, Flexion contracture, Cardiomyopathy, Restrictive ventilatory ... OMIM:253200
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Pneumonia, Cardiac conduction abnormality, Ventricular septal defect, Asth... ORPHA:353281
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... ORPHA:3047
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Diastasis recti, Flexion contracture, Macroglossia, Cardiomyopat... OMIM:253220
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Atrial septal defect, Ventricular septal defect OMIM:610536
Martsolf Syndrome 1
Tracheomalacia, Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Abnormal heart valve morphology, Congestive heart failure, Abnormal tendon morp... ORPHA:579
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... OMIM:309520
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Respiratory failure, Prolonged prothrombin time, Respiratory insuffi... OMIM:618329
Cranioectodermal Dysplasia 2
Patent ductus arteriosus, Recurrent pneumonia, Hypertension, Ectodermal dysplasia, Atrial septal ... OMIM:613610
Degcags Syndrome
Atrial septal defect, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Pneumoni... OMIM:619488
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Wolfram Syndrome
Central apnea, Gastrointestinal hemorrhage, Respiratory insufficiency, Cardiomyopathy, Myopathy ORPHA:3463
Aymé-Gripp Syndrome
Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Ca... ORPHA:1272
Hurler Syndrome
Aortic regurgitation, Flexion contracture, Cardiomyopathy, Mitral regurgitation, Macroglossia, En... OMIM:607014
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Elbow flexion... OMIM:117650
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:611812
Hereditary Spherocytosis
Restrictive cardiomyopathy, Jaundice ORPHA:822
Gm1 Gangliosidosis Type 1
Macroglossia, Cardiomyopathy, Cherry red spot of the macula, Aspiration pneumonia ORPHA:79255
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Secundum atrial s... OMIM:616268
Zellweger Syndrome
Jaundice, Ventricular septal defect, Respiratory insufficiency ORPHA:912
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:904
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Complete atrioventr... ORPHA:508488
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal pulmonary valve morph... ORPHA:580
Castleman Disease
Dyspnea, Restrictive cardiomyopathy, Jaundice, Cough ORPHA:160
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus ORPHA:2095
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Generalized amyotrophy, Limb hypertonia ORPHA:572798
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Bicuspid aortic valve, Ventricular septal defect, Breathing dysregulation... ORPHA:438213
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Patent ductus arteriosus, Flexion contracture, Elbow flexion contracture, Knee f... OMIM:300868
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... OMIM:614294
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, Total anomalous pulmona... ORPHA:487796
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Weaver Syndrome
Patent ductus arteriosus, Joint contracture of the hand, Diastasis recti, Camptodactyly OMIM:277590
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl... ORPHA:217085
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Premature ... ORPHA:90324
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Ventricular septal defect OMIM:617164
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy OMIM:616084
1P36 Deletion Syndrome
Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger, Patent ductus art... ORPHA:1606
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Atrioventricular canal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:617088
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm ORPHA:96201
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Usher Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology ORPHA:886
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl... ORPHA:217093
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis ORPHA:955
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:616975
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu... ORPHA:464738
Gm1-Gangliosidosis, Type Ii
Patent ductus arteriosus OMIM:230600
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Patent ductus arteri... ORPHA:818
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Recurrent sinusitis OMIM:213980
Kleefstra Syndrome 1
Macroglossia, Tracheobronchomalacia, Conotruncal defect OMIM:610253
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:300998
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Patent ductus arteriosus, Stroke OMIM:618188
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, A... OMIM:617140
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Prematurely aged appearance, Cardiomyopat... ORPHA:33364
Rubinstein-Taybi Syndrome 1
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, M... OMIM:180849
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Severe photosensitivity, Coarctation of aort... OMIM:270400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Stillbirth, Respiratory insufficiency OMIM:616300
Feingold Syndrome
Patent ductus arteriosus ORPHA:1305
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Skeletal muscle atrophy, Increased sarcoplasmic glycogen ORPHA:264580
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Macroglossia, Ascend... ORPHA:453499
Liver Disease, Severe Congenital
Ventricular septal defect, Pneumonia, Left atrial enlargement, Cardiomegaly, Dilatation of the ve... OMIM:619991
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia, Thyroid lymph... OMIM:235255
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect, Camptodactyly OMIM:617360
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Turnpenny-Fry Syndrome
Aortic regurgitation, Torticollis, Facial hypotonia, Patent ductus arteriosus, Mitral valve prola... OMIM:618371
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:268249
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Restrictive Dermopathy 1
Prominent superficial blood vessels, Limb joint contracture, Patent ductus arteriosus, Flexion co... OMIM:275210
Distal Deletion 12Q
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Pa... ORPHA:96149
Vater/Vacterl Association
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... OMIM:192350
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ventricular septal defect OMIM:243150
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus, Patent foramen ovale OMIM:300990
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Pneumonia, Cardiac conduction abnormality, Ventricular septal defect, Asth... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Pneumonia, Cardiac conduction abnormality, Ventricular septal defect, Asth... ORPHA:353277
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... OMIM:242840
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Ventricular septal defect, Facial hypotonia, Congenital diaphragma... OMIM:312870
Donnai-Barrow Syndrome
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:222448
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist... ORPHA:255210
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee fle... OMIM:614976
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta... ORPHA:444072
Mosaic Trisomy 1
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio... ORPHA:1692
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, T... ORPHA:261330
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:612530
Hereditary Orotic Aciduria
Patent ductus arteriosus ORPHA:30
X-Linked Intellectual Disability, Armfield Type
Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:85276
Digeorge Syndrome
Ventricular septal defect, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Patent duc... OMIM:188400
Charge Syndrome
Aortic arch aneurysm, Facial palsy, Patent ductus arteriosus, Respiratory insufficiency, Abnormal... ORPHA:138
Bohring-Opitz Syndrome
Neonatal respiratory distress, Ventricular septal defect, Flexion contracture, Camptodactyly, Atr... OMIM:605039
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Ventricular septal defect, Jaundice, Pulmonic stenosis, Tetralogy of Fallot OMIM:222470
Restrictive Dermopathy
Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Patent ductus arteriosus, Asc... ORPHA:1662
Chime Syndrome
Ventricular septal defect, Erythema, Tetralogy of Fallot, Transposition of the great arteries, Pu... ORPHA:3474
Isolated Complex I Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Respiratory insufficiency ORPHA:2609
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Portal hypertension, Jaundice, Prolonged prothrombin time, Hypertrophic cardiomyopathy, Hypomimic... ORPHA:309854
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... ORPHA:508498
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea OMIM:618426
Duane-Radial Ray Syndrome
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... OMIM:607323
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Dyspnea, Hypertrophic cardiomyopathy, Exertional dyspnea OMIM:616539
Keutel Syndrome
Sinusitis, Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosi... OMIM:245150
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Generalized muscle h... OMIM:235730
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Excessive wrinkled skin, Pulmonic stenosis, Atrial septal defect... ORPHA:1340
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Intr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Intr... ORPHA:363958
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia ORPHA:1764
Aicardi-Goutieres Syndrome 7
Pneumonia, Hematemesis, Pericardial effusion, Vasculitis, Hematochezia, Hypertension, Urticaria, ... OMIM:615846
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Asthma, Respiratory insuffic... ORPHA:488632
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... ORPHA:3138
Doors Syndrome
Respiratory distress, Double outlet right ventricle, Aspiration pneumonia ORPHA:79500
Alg9-Cdg
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... ORPHA:79328
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Aplasia of the right hemidiaphragm, Asthma, Patent ductus arteriosus, Cephalohematoma,... OMIM:619841
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Jaundice, Heart murmur,... OMIM:614866
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect, Coarctation of aorta OMIM:244450
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Costello Syndrome
Atrial septal defect, Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, P... OMIM:218040
Meckel Syndrome, Type 1
Camptodactyly of finger, Patent ductus arteriosus, Coarctation of aorta, Abnormal cardiac septum ... OMIM:249000
Cartilage-Hair Hypoplasia
Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Respiratory insufficiency, Car... ORPHA:175
Acrofacial Dysostosis, Cincinnati Type
Patent ductus arteriosus OMIM:616462
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia ORPHA:1655
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Limb hypertonia OMIM:609460
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pulmonary hemorrha... OMIM:233450
Fanconi Anemia, Complementation Group C
Flexion contracture, Bruising susceptibility, Ventricular septal defect OMIM:227645
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Dilated ... ORPHA:2556
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Opitz Gbbb Syndrome
Aspiration, Ventricular septal defect OMIM:300000
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Joint contracture of the 5th finger OMIM:619934
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... ORPHA:3472
Coffin-Siris Syndrome 1
Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Patent ductus arteri... OMIM:135900
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Prolonged neonata... OMIM:118450
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect OMIM:619306
Orofaciodigital Syndrome Xiv
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... ORPHA:373
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... ORPHA:2162
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Diastasis recti, Cardiomegaly, Congestive heart failure, Recurrent pneumoni... OMIM:252500
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Cardiomyopathy, Generalized muscular appearance from birth OMIM:608594
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
Cerebrocostomandibular Syndrome
Tracheomalacia, Neonatal respiratory distress, Ventricular septal defect ORPHA:1393
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal... ORPHA:1507
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy OMIM:613673
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cardiomyopathy, Atrial septal defect, Patent ductus arteriosus ORPHA:480880
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Treacher-Collins Syndrome
Patent ductus arteriosus, Respiratory insufficiency ORPHA:861
Tyrosinemia, Type I
Melena, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage, Prolonged prothrombin time OMIM:276700
Peters Plus Syndrome
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... ORPHA:709
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect OMIM:619229
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... OMIM:613458
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertrophic cardiomyopathy, Generalized muscular appearance... OMIM:269700
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Congenital d... OMIM:618846
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... ORPHA:97360
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F... ORPHA:821
Beckwith-Wiedemann Syndrome
Macroglossia, Cardiomyopathy, Diastasis recti, Cardiomegaly OMIM:130650
Larsen Syndrome
Tracheomalacia, Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Patent ductus arteriosus after birth at term, Abnormal heart morpholog... ORPHA:500150
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Abnormal heart mor... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Abnormal heart mor... ORPHA:352665
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral re... ORPHA:363700
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Varicose veins, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Coarctation of ao... ORPHA:672
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect OMIM:263520
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:251014
Hypermobile Ehlers-Danlos Syndrome
Apnea, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubu... ORPHA:285
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm... OMIM:105650
Pearson Syndrome
Cardiomyopathy, Cutaneous photosensitivity, Cardiac conduction abnormality, Abnormal heart morpho... ORPHA:699
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest ORPHA:293987
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Renova... ORPHA:97685
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly OMIM:616145
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... ORPHA:857
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Weakness of facial musculature, Ventricular septal defect, Prolonged neonatal jaundice OMIM:619418
Trisomy 18
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmati... ORPHA:3380
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... OMIM:271640
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Coarctation of aorta, Hyp... OMIM:220111
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619522
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia, Cutis marmorata, Elbow fle... OMIM:122470
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, Elbow flexion con... OMIM:268300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Pulmonar... ORPHA:96334
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... ORPHA:124
Congenital Disorder Of Glycosylation, Type Iiw
Ventricular septal defect, Prolonged prothrombin time, Bleeding with minor or no trauma, Prolonge... OMIM:619525
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Pulmonic stenosis, Atrial s... OMIM:261540
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta ORPHA:2308
Cohen-Gibson Syndrome
Patent ductus arteriosus, Flexion contracture, Camptodactyly OMIM:617561
Fryns Syndrome
Ventricular septal defect, Aplasia of the left hemidiaphragm, Stillbirth, Chylothorax, Camptodact... OMIM:229850
Jacobsen Syndrome
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:147791
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Neonatal death OMIM:124000
Knobloch Syndrome 2
Patent ductus arteriosus OMIM:618458
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep... OMIM:309500
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Pallister-Killian Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion con... OMIM:601803
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Limb Body Wall Complex
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph... ORPHA:2369
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Facial palsy, Abnormal subcutaneous fat tis... ORPHA:1328
Craniofacial Microsomia 1
Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Coarctatio... OMIM:164210
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Congestive h... OMIM:619475
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus ORPHA:1112
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Lower... ORPHA:459070
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Lower-limb joint contracture, Ventricular septal defect, Right aortic arch ORPHA:513456
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Flexion contracture, Abn... ORPHA:2152
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Lacrimoauriculodentodigital Syndrome
Patent ductus arteriosus, Corneal neovascularization ORPHA:2363
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Knobloch Syndrome 1
Patent ductus arteriosus OMIM:267750
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:508
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Stillbirth, Agenesis of the diaphragm, Ventricular septal... OMIM:236680
Acromegaly
Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:963
Somatomammotropinoma
Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:314769
Coffin-Lowry Syndrome
Mitral regurgitation, Acrocyanosis, Cutis marmorata OMIM:303600
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma,... ORPHA:116
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Yunis-Varon Syndrome
Ventricular septal defect, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial... OMIM:216340
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Recurrent aspiration pneumonia, Coarctation of a... OMIM:147920
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Multiple Osteochondromas
Pseudoaneurysm, Pneumothorax, Hemothorax ORPHA:321
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49
Johanson-Blizzard Syndrome
Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... OMIM:243800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Asthma, Recurrent pneumonia, Ventricular septal defect OMIM:620330
Cornelia De Lange Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Ventricular septal defect, Cutis marmorata ORPHA:199
Townes-Brocks Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Wolf-Hirschhorn Syndrome
Atrial septal defect, Decreased muscle mass, Ventricular septal defect OMIM:194190
Genitopatellar Syndrome
Atrial septal defect, Hip contracture, Ventricular septal defect, Knee flexion contracture OMIM:606170
Pmm2-Cdg
Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial eff... ORPHA:79318

Histopathology

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

There is no histopathology data for Rbpms

IMPC related publications

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

No publications found that use IMPC mice or data for Rbpms.

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MGI Allele Allele Type Produced
Rbpmsem1(IMPC)H Exon Deletion Mice

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