Gene Summary

Name:
outer dynein arm docking complex subunit 2
Synonyms:
Armc4,  4930463I21Rik,  b2b227.1Clo,  b2b643Clo

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Odad2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Odad2em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Odad2 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.

The table below shows human diseases associated to Odad2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Odad2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Reduced FEV1/FVC ratio,... OMIM:611884
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Situs... OMIM:615482
Ciliary Dyskinesia, Primary, 23
Productive cough, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchie... OMIM:615451
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Respiratory insufficien... OMIM:615067
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Recurr... OMIM:608644
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, ... OMIM:616037
Ciliary Dyskinesia, Primary, 28
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus total... OMIM:615505
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Bronchiectasis, Double outlet right ventricle, Rhinorrhea, Cough, Recurrent lower r... OMIM:618254
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Cough, R... OMIM:612444
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... OMIM:615500
Ciliary Dyskinesia, Primary, 18
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Situs inversus total... OMIM:614874
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Bronchiectasis, Situs inversus totalis, Cough, Recurrent respirato... OMIM:300991
Ciliary Dyskinesia, Primary, 14
Wheezing, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613807
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhin... OMIM:614017
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chron... OMIM:614679
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... OMIM:605376
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Situs inversus totalis, Chroni... OMIM:612518
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Respiratory ... OMIM:606763
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Ciliary Dyskinesia, Primary, 13
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Absent outer dynein arms, ... OMIM:613193
Ciliary Dyskinesia, Primary, 40
Rhinitis, Abnormal heart morphology, Cough, Situs inversus totalis OMIM:618300
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus totalis, Respira... OMIM:614935
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Asplenia OMIM:618948
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Ciliary Dyskinesia, Primary, 15
Wheezing, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613808
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Neonatal respiratory distress, Bronchiectasis, Rhinitis, Situs inversus totalis, Ch... OMIM:618063
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Hypoglossia With Situs Inversus
High palate, Asplenia, Situs inversus totalis, Microglossia, Upper airway obstruction, Respirator... OMIM:612776
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Wheezing, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Rhinorrhea, Rig... OMIM:617577
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Abdominal situs inversus, Situs inversus totalis, Chronic sinusitis, Cough, Decreas... OMIM:619607
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Ciliary Dyskinesia, Primary, 22
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus total... OMIM:615444
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent res... OMIM:617092
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Primary Ciliary Dyskinesia
Wheezing, Neonatal respiratory distress, Pulmonary situs ambiguus, Recurrent sinopulmonary infect... ORPHA:244
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Patent ductus arteriosus, ... OMIM:615382
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Duodenal atresia, Partial atrioventricular canal defect, Polysplenia... OMIM:619608
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Hepatomegaly, Truncus arteriosus, Pulmonary ... OMIM:615415
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dyspnea, Transient ischemic ... ORPHA:1330
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Meningocele, Hepatomegaly, Respiratory insufficiency, Duodenal stenosis, Abnormal t... ORPHA:1759
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Myelomeningocele, Situs inversus totalis, Restrictive ventilatory defect, Unilatera... OMIM:613686
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Ciliary Dyskinesia, Primary, 1
Pneumonia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chronic ... OMIM:244400
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Dyspnea, Congestive heart failure, Endocardial fibrosis OMIM:613255
Dextrocardia
Dextrocardia, Abnormality of the spleen, Abnormal pulmonary situs morphology, Meckel diverticulum... ORPHA:1666
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Chronic rh... OMIM:612649
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Thiamine-responsive megaloblastic anemia, Card... OMIM:249270
Long Qt Syndrome 16
T-wave alternans, Patent ductus arteriosus after birth at term, Perimembranous ventricular septal... OMIM:618782
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Ciliary Dyskinesia, Primary, 6
Sinusitis, Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Cil... OMIM:610852
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Hypertension, Situs inversus totalis, Hepatic cysts, Polycystic kidney dysplasia OMIM:613095
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chronic rhinitis, I... OMIM:242680
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Dyspnea, Right ventricular c... OMIM:610476
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Crackles, Vascular dil... ORPHA:99095
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Ciliary dyskinesia, Bronchiectasis, Recurrent pne... OMIM:619436
Double Outlet Right Ventricle
Ventricular septal defect, Cleft palate, Truncus arteriosus, Submucous cleft hard palate, Double ... ORPHA:3426
Marfanoid Habitus With Situs Inversus
Mitral valve prolapse, Obstructive sleep apnea, Persistent left superior vena cava, Situs inversu... OMIM:609008
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Exertional d... ORPHA:99050
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... OMIM:306955
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Respiratory insufficiency, Atrial septal defect, Respiratory failure, ... OMIM:253300
Ciliary Dyskinesia, Primary, 27
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615504
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Respiratory insufficiency, Situs inversus totalis, Renal c... OMIM:602088
Agnathia-Otocephaly Complex
Cleft palate, Aglossia, Situs inversus totalis, Microglossia, Respiratory distress, Tracheomalacia OMIM:202650
Meacham Syndrome
Abnormality of the spleen, Ventricular septal defect, Conotruncal defect, Aplasia/Hypoplasia of t... ORPHA:3097
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, T... ORPHA:1908
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Hypoxemia, Systolic heart murmur, Bidirectional shunt, Right bundle br... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Absent central microtubular pair... OMIM:617091
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Ciliary dyskinesia, Chronic rhinitis, Absent r... OMIM:242670
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Double outlet right ventricle, Abnormal heart morphology, Coarctat... OMIM:618164
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... ORPHA:3384
Ciliary Dyskinesia, Primary, 5
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... OMIM:608647
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Nemaline Myopathy 11, Autosomal Recessive
High palate, Cardiomyopathy, Reduced vital capacity OMIM:617336
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Right ventricular hypertrophy, Situs inversus totalis, Bil... OMIM:267010
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest ORPHA:34587
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Primary Pulmonary Hypoplasia
Dextrocardia, Abnormal breath sound, Hypoxemia, Cleft palate, Neonatal respiratory distress, Tach... ORPHA:2257
Ciliary Dyskinesia, Primary, 12
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Abnormal central microtu... OMIM:612650
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Dysphagia, Cardiomyopathy, Respiratory insufficiency OMIM:255100
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Heterotaxy, Visceral, 5, Autosomal
Duodenal atresia, Single ventricle, Patent ductus arteriosus, Dextrocardia, Ventricular septal de... OMIM:270100
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate OMIM:221950
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency OMIM:618222
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion, Abnormality of the lymph nodes OMIM:136580
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Respiratory insufficiency... OMIM:601186
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Indomethacin Embryofetopathy
Ventricular septal defect, Respiratory insufficiency, Cardiomyopathy, Multicystic kidney dysplasi... ORPHA:1909
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Single ventricle, Apnea, Patent ductus arteriosus, Decre... ORPHA:95430
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Obstructive sleep apnea, Perimembranous ventricular septal defect, Pulmonic stenosis, Transpositi... OMIM:617877
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia, Respiratory insufficiency OMIM:300696
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Respiratory distress, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Apnea OMIM:618235
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Paroxysmal dyspnea, Mitral atresia, Single ventricle, Low-output conge... ORPHA:99125
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis OMIM:615481
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... ORPHA:922
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, High palate, Patent ductus arteriosus, Anal atresia ORPHA:2863
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Sandestig-Stefanova Syndrome
Respiratory failure, Perimembranous ventricular septal defect, Ventriculomegaly, Muscular ventric... OMIM:618804
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Cardiomyopathy, Left ventricular hype... OMIM:613873
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Microglossia, Respiratory distress ORPHA:990
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Duodenal stenosis, Asple... ORPHA:210122
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Abnormal heart morphology, Perimembranous ventricular septal defect, Patent ... ORPHA:363444
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Left atrial enlargement, Systolic anterior motion of the ... OMIM:619402
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Microvesicular hepatic steatosis OMIM:615395
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Systol... OMIM:617478
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Renal cyst OMIM:615994
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy, Respiratory insufficiency OMIM:612999
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Ventricular septal defect, Double outlet right ventricle, Pulmonic ste... OMIM:220210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy OMIM:608099
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Dysphagia, Respiratory insufficiency, Bradycardia, Patent ductus art... OMIM:616276
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Cardiomyopathy ORPHA:63273
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cardiomyopathy OMIM:225740
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618243
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Cardiac-Urogenital Syndrome
Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductus arteriosus, In... OMIM:618280
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Cleft palate, Abnormal cardiac septum morphology OMIM:614294
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Asthma OMIM:614262
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... OMIM:618845
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Joubert Syndrome
Aganglionic megacolon, Abnormal pattern of respiration, Situs inversus totalis, Apnea, Episodic t... ORPHA:475
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Hydrocephalus OMIM:603387
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Apnea OMIM:616277
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Coarctation of aorta, Glossop... OMIM:616145
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... ORPHA:2326
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Global systolic dysfunction, Cardiomyopathy, Respiratory insufficiency OMIM:606842
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dyspnea, Ventricular septal ... ORPHA:3092
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... OMIM:613759
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:617184
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic sten... OMIM:179613
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:618316
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Isomerism, Hydrocephalus OMIM:314390
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613690
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Recurrent respiratory infections, Ciliary dyskinesia ORPHA:1882
Johnson Neuroectodermal Syndrome
Right aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:147770
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Respiratory insufficiency, Patent ductus arteriosus, Sid... OMIM:617021
Poland Syndrome
Dextrocardia OMIM:173800
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Hypoxemia, Meckel diverticulum, Neonatal respiratory distress, Morphologic... ORPHA:2847
Mungan Syndrome
Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic stenosis OMIM:611376
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Ventricular arrhythmia, Vascular dilatation, Congestive heart failure, Im... OMIM:600884
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Cardiomyopathy ORPHA:254857
Distal Nebulin Myopathy
Exertional dyspnea, High palate, Cardiomyopathy ORPHA:399103
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Atrial ... OMIM:601927
Ellis Van Creveld Syndrome
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Acute leukemia, Atriove... ORPHA:289
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Cardiomyopathy, Left ventricular hypertrophy OMIM:611556
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Pagod Syndrome
Meningocele, Abnormality of the spleen, Abnormal aortic morphology, Situs inversus totalis, Pulmo... ORPHA:991
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Biventricular hypertrophy, Atrial fibrillation, ST segment ... OMIM:613243
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Glossoptosis, Jaundice OMIM:614876
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Familial Aortic Dissection
Aortic dissection, Paroxysmal dyspnea, Descending thoracic aorta aneurysm, Mucoid extracellular m... ORPHA:229
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... ORPHA:3400
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Respiratory insufficiency, Renal cyst, Respiratory... OMIM:228940
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Respiratory insufficiency, A... ORPHA:1166
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Left atrial enlargement, Syncope, Hepatomegaly, Atrial fibrillation,... ORPHA:75249
Myopathy, Distal, 4
Cardiomyopathy OMIM:614065
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Hurler-Scheie Syndrome
Hepatomegaly, Rhinitis, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Abnormal heart ... ORPHA:93476
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... OMIM:264480
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, High palate, Respiratory insufficiency, Cong... OMIM:255160
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Short Rib-Polydactyly Syndrome
Cleft palate, Hepatic fibrosis, Abnormal heart morphology, Situs inversus totalis, Gastrointestin... ORPHA:1505
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal endocardium... ORPHA:3287
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormality of neutrophils ORPHA:111
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia ORPHA:391646
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Respiratory insufficiency OMIM:615352
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618228
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Patent du... OMIM:601005
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Cleft palate, Mitral valve prolapse, Increased mean... OMIM:612561
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... OMIM:619424
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect ORPHA:2515
Floating-Harbor Syndrome
Celiac disease, Persistent left superior vena cava, Coarctation of aorta, Mesocardia, Atrial sept... OMIM:136140
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal aortic valve morphology, Abnormal heart mo... ORPHA:261197
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Asplenia, Abnormal lung lobat... ORPHA:99776
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia, Hepatic fibrosis ORPHA:306550
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Hypoplastic tricuspid val... OMIM:600001
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart f... OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Pulmonary hypoplasia, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Patent ductus arteriosus, Hydrocephalus, Vas... OMIM:220220
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Halperin-Birk Syndrome
Colpocephaly, Perimembranous ventricular septal defect, Ventriculomegaly, Aspiration, Semilobar h... OMIM:618651
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Hepatic steatosis ORPHA:26792
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart... OMIM:613313
American Trypanosomiasis
Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Cough, Cardiomyopathy, Splenom... ORPHA:3386
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome OMIM:614947
Alpha-B Crystallin-Related Late-Onset Myopathy
Dysphagia, Respiratory insufficiency due to muscle weakness, Cardiomyopathy ORPHA:399058
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... ORPHA:2306
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis OMIM:249670
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Respiratory distress, Low-output congestive heart failure ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular hypertrophy, Ventricular tachycardia, Ventricular septal hypertrophy, C... ORPHA:263297
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, High palate, Respiratory insufficiency OMIM:615959
Johanson-Blizzard Syndrome
Dextrocardia, Anemia, Malabsorption, Anal atresia, Abnormality of the pancreas, Abnormal cardiac ... ORPHA:2315
Marden-Walker Syndrome
Dextrocardia, High, narrow palate, Pyloric stenosis, High palate, Cleft palate, Zollinger-Ellison... OMIM:248700
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Ventricular septal defect, Neonatal respiratory distress, Crackles, Tachypne... OMIM:610978
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... ORPHA:477817
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect, Tricuspid regurgitation OMIM:618929
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Paroxysmal dyspnea, Right ventricul... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Respiratory insufficiency OMIM:618378
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Respiratory insufficiency OMIM:212350
Marden-Walker Syndrome
Pyloric stenosis, Dextrocardia, Ventricular septal defect, Cleft palate, Situs inversus totalis, ... ORPHA:2461
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Congenital Hydrocephalus
Colpocephaly, Abnormal heart morphology, Hydrocephalus, Ventriculomegaly ORPHA:2185
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ciliary Dyskinesia, Primary, 43
Productive cough, Neonatal respiratory distress, Abdominal situs inversus, Bronchiectasis, Chroni... OMIM:618699
Hadziselimovic Syndrome
Ventricular septal defect, High palate, Ventricular hypertrophy, Anal atresia, Atrial septal defe... OMIM:612946
Catel-Manzke Syndrome
Cleft palate, Ventricular septal defect, Atrial septal defect, Glossoptosis ORPHA:1388
Joubert Syndrome With Ocular Defect
Dextrocardia, Aganglionic megacolon, Cleft palate, Abnormal pattern of respiration, Apnea ORPHA:220493
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly, Hydrocephalus OMIM:300886
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic steat... OMIM:618234
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Reduced forced vital capacity, Respiratory insufficiency OMIM:612954
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Apnea OMIM:618236
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Abnormal mitral valve m... ORPHA:1461
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Pericarditis, Respiratory insu... ORPHA:732
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... OMIM:132900
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Respiratory insufficiency, Res... OMIM:614299
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... ORPHA:79094
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy, Abnormality of the liver ORPHA:391457
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus OMIM:166990
Velocardiofacial Syndrome
Interrupted aortic arch, Ventricular septal defect, Right aortic arch with mirror image branching... OMIM:192430
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval, Muscular ventricular septal defect ORPHA:66634
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Esophageal varix, Patent ductus arteriosus, Splenomegaly, Common atrium, Pro... OMIM:619534
Mirage Syndrome
Intracranial hemorrhage, Leukopenia, Anemia, Patent ductus arteriosus, Hypoplastic spleen, Achala... OMIM:617053
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:300718
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Transposition of the great arteries, Abnor... ORPHA:1926
Duchenne Muscular Dystrophy
Cardiomyopathy, Respiratory insufficiency ORPHA:98896
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Hemochromatosis, Type 1
Telangiectasia, Hepatomegaly, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy, Splenomegal... OMIM:235200
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Gastrointestinal infarctions, Double ... ORPHA:397
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Czeizel-Losonci Syndrome
Dextrocardia, High palate, Myelomeningocele, Tracheoesophageal fistula, Pulmonary hypoplasia ORPHA:2437
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Tachypnea, Aortic regurgitation, Patent d... OMIM:616501
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Hypoventilation, Congestive he... OMIM:310200
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency OMIM:614462
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency ORPHA:199302
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Duodenal atresia, Abnormal tricuspid valve... ORPHA:3405
Floating-Harbor Syndrome
Celiac disease, Persistent left superior vena cava, Coarctation of aorta, Mesocardia, Renal cyst,... ORPHA:2044
Renpenning Syndrome
High, narrow palate, Heterotaxy, Cleft palate, Anal atresia ORPHA:3242
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:608810
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Hydrocephalus, Patent ductus arteriosus OMIM:614886
Alg12-Cdg
Biventricular hypertrophy, Chronic rhinitis, Patent ductus arteriosus, Ventriculomegaly, Recurren... ORPHA:79324
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Atrioventricular canal defe... ORPHA:508498
Meckel Syndrome
Cleft palate, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Situs inversus totalis, Ap... ORPHA:564
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy, Abnormality of the gastrointestinal tract, Respiratory... ORPHA:79327
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Splenomegaly, Respiratory distre... ORPHA:79312
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Noonan Syndrome 12
Ventricular septal defect, Thrombocytopenia, Supravalvular aortic stenosis, Tetralogy of Fallot, ... OMIM:618624
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Muscular ventricular septal defect OMIM:619227
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Hepatitis, Abnormal hemoglo... ORPHA:848
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Cleft palate, Neonatal respiratory distress, Dysplastic tricuspid valve, D... OMIM:265380
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Obstructive sleep apnea, Abnormal heart morphology, Centr... ORPHA:70472
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Cardiomyopathy OMIM:610717
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Distal Myotilinopathy
Cardiomyopathy ORPHA:98911
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect, Apnea, Anemia ORPHA:255241
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Cleft palate, Ventricular septal defect, Hypoplastic left heart, Ectopic anus ORPHA:2476
Feingold Syndrome Type 1
Interrupted aortic arch, Tricuspid atresia, Tricuspid stenosis, Abnormal heart morphology, Multip... ORPHA:391641
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Respiratory insufficiency due to muscle weakness OMIM:616816
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Reduced forced vital capacity, Cardiomyopathy OMIM:619566
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy OMIM:609308
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pulmonary hypoplasia, Pancreatic cysts, Hepatic fibrosis, Asplenia, Bile duct proli... OMIM:208540
Congenital Tracheal Stenosis
Wheezing, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, Duodenal ste... ORPHA:141127
Polyarteritis Nodosa
Hypertension, Pericarditis, Pleuritis, Cardiomyopathy, Raynaud phenomenon, Abnormal lung morpholo... ORPHA:767
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hyperglycorrhachia, Hypertension, ST segment depression, Prolonged ... ORPHA:90065
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... ORPHA:371428
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Mmep Syndrome