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Gene: Odad2 MGI:1922184

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Gene Summary

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

Order Alleles

IMPC Data Collections

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
small spleen Odad2em1(IMPC)Mbp HOM Early adult 0.00
male infertility Odad2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:615451
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244

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, 40
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Absent ou... OMIM:618300
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:615451
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Productive cough, ... OMIM:615482
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... OMIM:615481
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615504
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615505
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Bronchiectasis, Decreased nasal nitric oxide, Cough,... OMIM:618254
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Cough, W... OMIM:613807
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... OMIM:614874
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... OMIM:614679
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:300991
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615500
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... OMIM:614017
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:616481
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... OMIM:615444
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ... OMIM:613193
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... OMIM:612444
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Cilia... OMIM:612518
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti... OMIM:614935
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:612650
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... OMIM:608647
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec... OMIM:620197
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Cough, W... OMIM:613808
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:617092
Spermatogenic Failure 17
Male infertility OMIM:617214
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... OMIM:619607
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... OMIM:617577
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, High palate, Po... OMIM:612776
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Decreased ... OMIM:619608
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... ORPHA:1330
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Mirror Movements 3
Situs inversus totalis OMIM:616059
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Immotile cilia, Chronic... OMIM:244400
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... ORPHA:185
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Dextrocardia
Abnormal EKG, Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, ... ORPHA:1666
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Intestinal malrotation, Respiratory insufficiency, Duodenal stenosis,... ORPHA:1759
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Ciliary Dyskinesia, Primary, 6
Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary motility, Recurrent sinusitis, Ci... OMIM:610852
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Congenital Gerbode Defect
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... ORPHA:99095
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Cardiogenic shock, Muscular ven... OMIM:619371
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... ORPHA:860
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
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, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... OMIM:619657
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Tachypnea, Submucous cleft hard p... ORPHA:3426
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Nephronophthisis 2
Situs inversus totalis, Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary h... OMIM:602088
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis OMIM:619881
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Coronary sinus enlargement,... OMIM:618280
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft pala... OMIM:202650
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Reduced forced... OMIM:613686
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... OMIM:620236
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at... ORPHA:2257
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... ORPHA:980
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... OMIM:253300
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest ORPHA:34587
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Multiple renal cysts,... OMIM:613095
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de... OMIM:270100
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Respiratory insufficiency due to muscle weakness, Cardiomyopathy, Dysphagia ORPHA:63273
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... OMIM:306955
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Portal hypertension, Situs inversus totalis, Pancreatic cysts, Pate... OMIM:267010
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Ventriculomegaly OMIM:617616
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Respiratory insufficiency, Cardiomyopath... ORPHA:1909
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Pulmonary hypoplasia, Tra... OMIM:314390
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Microphthalmia, Syndromic 9
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... OMIM:601186
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Respiratory insufficiency, Dysphagia OMIM:255100
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Ventriculomegaly, R... OMIM:618804
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... OMIM:612877
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Nemaline Myopathy 9
Cleft palate, High palate, Ventricular septal defect, Respiratory insufficiency OMIM:615731
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang... ORPHA:210122
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia ORPHA:2863
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Stroke, Left atrial enlargement OMIM:611556
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili... ORPHA:922
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Microglossia, Respiratory distress ORPHA:990
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... ORPHA:363444
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri... OMIM:617877
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
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
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Bilater... ORPHA:2326
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Renal cyst OMIM:615994
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly OMIM:609016
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:220210
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy OMIM:615395
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Vascular ring, Mitral regurgitation, Atrial septal defe... OMIM:603387
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Situs inversus totalis, Hydrocephalus, Abnormal pattern... ORPHA:475
Birk-Aharoni Syndrome
Cryptorchidism, Muscular ventricular septal defect OMIM:620071
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:179613
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... OMIM:601927
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Cardiomyopathy, Respiratory insufficiency, Global systolic dysfunction OMIM:606842
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Muscular ventricular septal defect OMIM:620062
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... OMIM:608758
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Snijders Blok-Campeau Syndrome
Atrial septal defect, Ventriculomegaly, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai... OMIM:613759
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... OMIM:115195
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Recurrent respiratory infections, Ciliary dyskinesia ORPHA:1882
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotat... OMIM:618316
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... OMIM:613243
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect, Ventriculomegaly OMIM:618354
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Lef... ORPHA:75249
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... OMIM:618433
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Ciliary Dyskinesia, Primary, 50
Coiled sperm flagella, Short sperm flagella, Chronic sinusitis, Absent inner dynein arms OMIM:620356
Myopathy, Myofibrillar, 1
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... OMIM:601419
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation... ORPHA:2847
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pyloric stenosis, Asthma, Pulmonic stenosis, Atrial septal defect OMIM:614262
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... OMIM:600884
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618243
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Distal Nebulin Myopathy
Cardiomyopathy, High palate, Exertional dyspnea ORPHA:399103
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Mitral regurgitation ORPHA:83473
Pagod Syndrome
Encephalocele, Spina bifida, Sudden cardiac death, Situs inversus totalis, Meningocele, Pulmonary... ORPHA:991
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Neonatal respiratory distress ORPHA:254857
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... OMIM:620070
Poland Syndrome
Dextrocardia OMIM:173800
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... OMIM:264480
Congenital Myopathy 24
Cardiomyopathy, Reduced vital capacity, High palate, First degree atrioventricular block OMIM:617336
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Ventricular septal defect, Glossoptosis OMIM:614876
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Respiratory insufficiency, Cleft palate, Abnormal aortic morphology, M... ORPHA:1166
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Barth Syndrome
Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis ORPHA:111
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Cardiogenic... OMIM:619424
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe... ORPHA:3304
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Respiratory insufficiency OMIM:615352
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Myopathy, Distal, 4
Cardiomyopathy OMIM:614065
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Respiratory insufficiency, Right bundle branch block, Car... ORPHA:171445
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... ORPHA:3287
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Sotos Syndrome
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte... OMIM:117550
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Hypertrophic cardiomyopathy, Apnea OMIM:618236
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morpho... ORPHA:261197
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Patent duc... OMIM:612561
Myopathy, Distal, 7, Adult-Onset, X-Linked
Respiratory insufficiency due to muscle weakness, Cardiomyopathy, Myofiber disarray OMIM:301075
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:619003
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... OMIM:600001
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Dextrocardia, Cryptorchidism, Coarctation of aorta, Atrioventricular can... OMIM:618929
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir... OMIM:602390
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly OMIM:300886
Halperin-Birk Syndrome
Colpocephaly, Perimembranous ventricular septal defect, Aspiration, Ventriculomegaly, Semilobar h... OMIM:618651
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia, Respiratory insufficiency OMIM:612999
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Intestinal malrotation,... ORPHA:99776
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Distal Myopathy, Welander Type
Cardiomyopathy ORPHA:603
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis ORPHA:306550
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Alpha-B Crystallin-Related Late-Onset Myopathy
Respiratory insufficiency due to muscle weakness, Cardiomyopathy, Dysphagia ORPHA:399058
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Hepatic steatosis ORPHA:26792
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fibrosis, Cirrhosis... OMIM:613313
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va... OMIM:220220
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... OMIM:158170
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Myocarditis, Congestive heart failure, Splenomegaly, Dyspnea... ORPHA:3386
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Velocardiofacial Syndrome
Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Pulmonary artery atresia, Tet... OMIM:192430
Johanson-Blizzard Syndrome
Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Abnormal cardia... ORPHA:2315
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like ... OMIM:185070
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:302045
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... OMIM:277380
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Bronchiectasis, Noncommunicating hydrocephalus, ... OMIM:618699
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy OMIM:617184
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... OMIM:620326
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Marden-Walker Syndrome
Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi... OMIM:248700
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Abnormal aortic morp... ORPHA:1926
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent... OMIM:618164
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Pulmona... OMIM:615524
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Stroke, Neutropenia, Pa... ORPHA:79312
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Respiratory insufficiency, Arrhythmia OMIM:300696
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... OMIM:616501
Mirage Syndrome
Thrombocytopenia, Patent ductus arteriosus, Esophageal stricture, Intracranial hemorrhage, Leukop... OMIM:617053
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Apnea, Dextrocardia, Cleft palate, Abnormal pattern of respiration ORPHA:220493
Marden-Walker Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Py... ORPHA:2461
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm ORPHA:261102
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Hydroceph... ORPHA:2306
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus OMIM:166990
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... ORPHA:263297
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardiomyopathy, Prolonged Q... ORPHA:66634
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Cardiomyopathy, Hepatomegaly OMIM:608540
Catel-Manzke Syndrome
Atrial septal defect, Glossoptosis, Ventricular septal defect, Cleft palate ORPHA:1388
Alg1-Cdg
Abnormality of the gastrointestinal tract, Abnormal heart morphology, Cardiomyopathy, Respiratory... ORPHA:79327
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy, Abnormality of the liver ORPHA:391457
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... ORPHA:1461
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... OMIM:612946
Giant Cell Arteritis
Glossitis, Pericarditis, Aortic dissection, Epistaxis, Sudden cardiac death, Abnormal pleura morp... ORPHA:397
Duchenne Muscular Dystrophy
Cardiomyopathy, Respiratory insufficiency ORPHA:98896
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula... OMIM:614294
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Alg12-Cdg
Cryptorchidism, Muscular ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia... ORPHA:79324
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:615119
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Cleft pa... OMIM:620210
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Neonatal asphyxia, Congestive heart failure, Respiratory insuffici... OMIM:608779
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency ORPHA:199302
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Renpenning Syndrome
Heterotaxy, Cleft palate, High, narrow palate, Anal atresia ORPHA:3242
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Hepatomegaly, Respiratory insufficiency due to muscle... OMIM:613561
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency OMIM:615917
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... OMIM:619769
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Ventricular septal defect OMIM:616816
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve... ORPHA:3405
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Cirrhosis, Hepatoce... OMIM:619902
Floating-Harbor Syndrome
Celiac disease, Tetralogy of Fallot, Renal cyst, Coarctation of aorta, Gastroesophageal reflux, P... ORPHA:2044
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Abnormal left ventricular function ORPHA:98912
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... OMIM:616589
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Intermediate Nemaline Myopathy
Cardiomyopathy, Respiratory failure, High, narrow palate, Dysphagia ORPHA:171433
Czeizel-Losonci Syndrome
High palate, Pulmonary hypoplasia, Dextrocardia, Tracheoesophageal fistula ORPHA:2437
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Respiratory insufficiency due to muscle weakness, Cardiomyo... ORPHA:329336
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina... ORPHA:508498
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop... OMIM:618624
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Myocardial infarction, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Hepatic steatosis, Hepatomegaly OMIM:610717
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasia/Hypoplasia of the to... ORPHA:564
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly OMIM:218350
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Respira... OMIM:276950
Distal Myotilinopathy
Cardiomyopathy ORPHA:98911
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... OMIM:619433
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Spina bifida occulta OMIM:619227
Thanatophoric Dysplasia Type 2
Encephalocele, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Holoprosenceph... ORPHA:93274
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:608099
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
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardi... OMIM:300855
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Megarectum, Abnormal left ventricular function, Leukopen... OMIM:301056
Holoprosencephaly 14
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... OMIM:619895
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Abnormal heart morphology, Stroke-like episode, Respiratory failure, Ga... ORPHA:70472
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Cardiomegaly, Congestive heart failure, Microvesicular hepati... OMIM:212140
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... OMIM:616898
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Raynaud phenomenon, Abnormal lung morpho... ORPHA:767
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endoca... ORPHA:2119
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia ORPHA:295
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A... OMIM:619123
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Atrial septal defect, Dandy-Wal... OMIM:614846
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy ORPHA:868
Myopathy, Myofibrillar, 2
Orthopnea, Respiratory insufficiency due to muscle weakness, Paradoxical respiration, Dysphagia, ... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Cardiomyopathy, Reduced forced vital capacity OMIM:619566
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:602501
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:35
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Maternally-Inherited Diabetes And Deafness
Malabsorption, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:225
Congenital Tracheal Stenosis
Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio... ORPHA:141127
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hydrocephalus OMIM:614886
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Glycogen Storage Disease Iii
Ventricular hypertrophy, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly OMIM:232400
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia ORPHA:96097
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... OMIM:190685
Floating-Harbor Syndrome
Celiac disease, Coarctation of aorta, Epididymal cyst, Atrial septal defect, Mesocardia, Persiste... OMIM:136140
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618378
14Q11.2 Microdeletion Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, High-output con... ORPHA:137667
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... ORPHA:1600
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Myopathy, Myofibrillar, 6
Reduced forced vital capacity, Respiratory insufficiency, Restrictive ventilatory defect, Mitral ... OMIM:612954
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency, Cardiomyopathy, Leu... ORPHA:27
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Atrial septal defec... ORPHA:401935
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Tibial Muscular Dystrophy
Cardiomyopathy, Respiratory failure ORPHA:609
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia ORPHA:3469
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... ORPHA:439232
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... OMIM:606003
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Al Amyloidosis
Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary... ORPHA:85443
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Cryptorchidism, Abnormal heart morphology, Tetralogy of Fallot, Dandy-Walker malfor... ORPHA:96092
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough, Left ventricular hypertrophy ORPHA:86812
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insuffi... ORPHA:90308
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Mitral valve prolapse ORPHA:2183
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Gastrointestinal dys... ORPHA:330001
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Atelis Syndrome 1
Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, High palate, Atrial septal defect,... OMIM:620184
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ... OMIM:212138
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
Gne Myopathy
Cardiomyopathy ORPHA:602
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy... ORPHA:49827
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Pearson Syndrome
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... ORPHA:699
Fumarase Deficiency
Perimembranous ventricular septal defect, Mitochondrial swelling, Ventriculomegaly, Choroid plexu... OMIM:606812
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle, Ventricular septal defect, Abnormal heart morphology, Coarctation of ao... ORPHA:261183
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Abnormality of the lymphatic system, Pulmonic stenosis, Dysphagia ORPHA:638
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Cardiomyopathy OMIM:608807
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Igg4-Related Aortitis
Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubular aorta aneury... ORPHA:449400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, Tachypnea, Hepatocel... OMIM:201475
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Secundum atrial septal defect, Congestive heart failure, Patent du... OMIM:616866
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepat... OMIM:600649
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Vascular dilatation OMIM:219730
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Decreased hepatic echogenicity OMIM:613752
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Intest... ORPHA:2970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus OMIM:613155
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... ORPHA:2516
Thanatophoric Dysplasia
Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Atrial septal defect, Ventric... ORPHA:2655
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency OMIM:618228
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Diets-Jongmans Syndrome
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ... OMIM:618846
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, Congestive heart... OMIM:310200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... ORPHA:308552
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia OMIM:606069
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Mitral regurgitation, Pulm... OMIM:615355
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... OMIM:616651
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Knobloch Syndrome
Lymphangioma, Patent ductus arteriosus, Pyloric stenosis, Dextrocardia ORPHA:1571
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Apnea OMIM:616896
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Cleft palate, Ectopic anus ORPHA:2476
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy OMIM:609308
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Gastrointestinal dysmotility, Atrial septal ... OMIM:619189
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Cardiomegaly ORPHA:858
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia... ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Left ventricular hypertrophy, Dandy-W... OMIM:613153
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension ORPHA:3222
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Hydrocephalus, Res... OMIM:210710
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:94066
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Pulmonary arterial hypertension,... OMIM:212350
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteri... OMIM:612863
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... OMIM:618775
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopi... OMIM:313850
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrocephalus, Cardiomegaly OMIM:269920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Respiratory distress, Ventricular septal defect... ORPHA:26793
Neurooculorenal Syndrome
Dextrocardia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Tetralog... OMIM:620305
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... OMIM:618234
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
3C Syndrome
Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abn... ORPHA:7
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Dyspnea, Patent foramen ovale, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:614582
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, ... ORPHA:2331
Rubinstein-Taybi Syndrome 1
Respiratory distress, Ventricular septal defect, Spina bifida, Bilateral cryptorchidism, Cryptorc... OMIM:180849
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hypertrophic ... OMIM:612938
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Childhood-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Neuromuscular dysphagia... ORPHA:171439
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618241
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal ... ORPHA:183
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Neutrope... ORPHA:1667
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis, Respiratory failure OMIM:619386
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory insufficien... ORPHA:1842
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Abnormal EKG, Dysphagia ORPHA:1177
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lympha... OMIM:614034
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot, Dec... OMIM:309500
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... OMIM:208000
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis ORPHA:1296
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:601355
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal v... ORPHA:163956
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy ORPHA:1369
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Respiratory i... OMIM:619909
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Finnish Upper Limb-Onset Distal Myopathy
Cardiomyopathy ORPHA:399086
Glycogen Storage Disease Iv
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis OMIM:232500
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion OMIM:614702
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Emanuel Syndrome
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Cryptorchidism, Patent ductus ar... OMIM:609029
Hemochromatosis, Type 3
Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Gastroesophageal reflux, Respiratory insufficiency ORPHA:544469
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Ventricular septal defect, Mitral atresia, Apnea, Portal hypertens... OMIM:619503
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Abnormal pulmonary valve morphology, Congestive heart failure, Respiratory failure,... ORPHA:1194
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Abnormal heart morphology OMIM:175700
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Ankyloglossia OMIM:602361
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Low-output congesti... ORPHA:565612
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holoprosencep... ORPHA:77298
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Gastroesophageal reflux, Hiatus hernia, Pulmonary ar... ORPHA:3342
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Hypertrophic cardiomyopathy, Reduced vital capacity OMIM:608358
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:610773
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Atrial septal... OMIM:612582
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Hypertrophi... ORPHA:369
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Apnea, Inspiratory stridor OMIM:600721
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jugular vein morp... ORPHA:1677
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,... OMIM:614299
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy, Respiratory insufficiency ORPHA:324525
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
8Q12 Microduplication Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect ORPHA:228399
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Neonatal respiratory distress, Hepatomegaly, Hypertrophic cardiomyopathy, High palate OMIM:619053
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy OMIM:618237
Esophageal Atresia
Respiratory distress, Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophage... ORPHA:1199
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocyt... ORPHA:292
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Bilateral cryptorchidism, Patent d... OMIM:614976
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardio... ORPHA:367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficie... OMIM:253800
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Hyperten... OMIM:613870
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus ORPHA:1516
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Colpocephaly, Hypo... OMIM:301043
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Myofiber disarray, High palate, Hypertrophic ... OMIM:604377
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Propionic Acidemia
Hepatomegaly, Pancytopenia, Apnea, Thrombocytopenia, Cerebellar hemorrhage, Tachypnea, Cardiomyop... OMIM:606054
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Patent... ORPHA:284169
Joubert Syndrome 18
Ventricular septal defect, Cleft palate, Renal cyst, Lobulated tongue, Intrahepatic biliary atresia OMIM:614815
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep... ORPHA:1335
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Ring Chromosome 7 Syndrome
Situs inversus totalis, Heart murmur, Hydrocele testis, Holoprosencephaly, Ventriculomegaly ORPHA:1449
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventriculomegaly, Ventricular septal defect, Tracheomalacia ORPHA:513456
Alg3-Cdg
Cardiomyopathy, Neural tube defect, Dandy-Walker malformation, Coarctation of the descending aort... ORPHA:79321
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Cystic renal dysplasia OMIM:613730
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Patent ductus arteriosus, Narrow palate, Cleft palate, T lymphocytopenia, ... OMIM:618223
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, Respiratory insufficiency, CSF lymphocytic pleiocytosis OMIM:610333
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... ORPHA:1923
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... OMIM:300280
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Abnormal heart morphology, Hydr... ORPHA:314588
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Emanuel Syndrome
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Cryptorchidism, Patent ductus ar... ORPHA:96170
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Congestive heart failure, Dyspnea, Cardiorespiratory arrest, Ab... ORPHA:26791
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... OMIM:613001
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... OMIM:619472
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropeni... OMIM:251000
Cyclic Vomiting Syndrome
Cardiomyopathy, Gastrointestinal dysmotility OMIM:500007
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Fried Syndrome
Hydrocephalus ORPHA:85335
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Intrahe... OMIM:614921
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Ventric... OMIM:300514
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hy... OMIM:614424
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Heart block... ORPHA:398124
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis, Hydrocephalus ORPHA:163596
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Myopathy, Myofibrillar, 4
Cardiomyopathy OMIM:609452
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:615630
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Renal cyst, Ventricular septal defect, Hepatic cysts OMIM:263630
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Macrocytic anemia OMIM:619046
Trigonocephaly With Short Stature And Developmental Delay
High palate, Ventricular septal defect OMIM:314320
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta OMIM:301022
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Portal hypertension, Malabsorption,... OMIM:243800
Fryns Syndrome
Ventriculomegaly, Cryptorchidism, Abnormal aortic arch morphology, Abnormal cardiac septum morpho... ORPHA:2059
Serkal Syndrome
Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Hermansky-Pudlak Syndrome 1
Epistaxis, Hematochezia, Cardiomyopathy, Restrictive ventilatory defect, Inflammation of the larg... OMIM:203300
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Cryptorchidism, Patent ductus arteriosus, Hypoplastic ao... OMIM:300166
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, F... ORPHA:160
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Ventricular septal defect ORPHA:3369
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop... ORPHA:276556
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Atrial septal defect, Ventric... ORPHA:1860
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop... ORPHA:276575
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Ventric... OMIM:614576
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, High, narrow palate, Cleft palate, Coarctation of aorta, Abnormal hear... OMIM:618494
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl... OMIM:616145
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Dyspnea, Hypertrophic cardiomyopathy, Heart murmur OMIM:615418
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Renal cyst, Cardiomyopathy, Respiratory failure, Bone marrow hypocellularity, Infec... ORPHA:445038
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:252011
Alagille Syndrome 2
Cholestasis, Renal cyst, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septa... OMIM:610205
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Refsum Disease
Heart block, Cardiomyopathy, Respiratory insufficiency, Splenomegaly ORPHA:773
Tetrasomy 9P
Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Raynaud phenomenon, Cryptorchid... ORPHA:3310
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Calcificatio... OMIM:231005
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... OMIM:608149
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, High palate, Atrial... OMIM:618142
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abn... ORPHA:97214
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... ORPHA:97339
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Hepatic steatosis, Congestive heart failure, Weakness of muscles of respiration ORPHA:52430
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent ductus arteriosus, Exocri... ORPHA:452
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Congestive heart failure, Splenomega... ORPHA:354
Heart And Brain Malformation Syndrome
Dandy-Walker malformation, Ventricular septal defect, Interrupted aortic arch OMIM:616920
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... ORPHA:261311
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Congestive heart failure, T... OMIM:617303
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Congestive heart failure, Splenomegaly, Prominent veins on trunk, Polycystic ovarie... ORPHA:79083
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Ant... OMIM:619980
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dandy-Walker mal... ORPHA:163961
Charge Syndrome
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Cryptorchidism, Paten... OMIM:214800
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... ORPHA:2255
Cooper-Jabs Syndrome
Anteriorly placed anus, Ventricular septal defect, Respiratory insufficiency ORPHA:1488
Trisomy 1Q
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly ORPHA:261344
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Isolated Klippel-Feil Syndrome
Anal atresia, Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:2345
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cholestasis, Respiratory insufficiency, Cardio... ORPHA:746
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Autosomal Recessive Progressive External Ophthalmoplegia
Cardiomyopathy, Dysphagia ORPHA:254886
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate OMIM:214300
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Central hypoventilation, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Hy... OMIM:620167
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop... ORPHA:276580
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Dysphagia, Exertional dyspnea ORPHA:368
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... ORPHA:536545
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth... ORPHA:60040
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Pneumonia, Nodular regenerative hyperplasia of li... ORPHA:247691
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal cardia... ORPHA:251071
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Congestive heart failure, Polycystic ovaries, Hypertrophic cardiomyop... ORPHA:2348
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hyp... OMIM:617506
Acitretin/Etretinate Embryopathy
Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, H... ORPHA:40366
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function, Hepatomegaly ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal cyst, Cardiomyopathy, Respiratory failure, Hepatic steatosis OMIM:614922
Cornelia De Lange Syndrome 2
Gastroesophageal reflux, Hypertrophic cardiomyopathy, High palate OMIM:300590
Digeorge Syndrome
Ventricular septal defect, Patent ductus arteriosus, Chronic pulmonary obstruction, Asthma, Recur... OMIM:188400
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal respiratory distress, Ventricular septal defect, Intestinal malrotation, Patent ductus a... ORPHA:457193
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Patent ductus arteriosus, Cleft palate, Ante... OMIM:217980
Distal Deletion 15Q
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Double outlet right ventricl... ORPHA:1596
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gastroesophageal reflux, Neonatal respiratory distress, Ventricular septal defect, Recurrent aspi... ORPHA:79243
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Leukocytosis, Sple... OMIM:615895
Coach Syndrome 2
Hypertension, Hydrocephalus, Apneic episodes in infancy OMIM:619111
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:254913
Congenital Sialidosis Type 2
Abnormal EKG, Hydrocephalus, Telangiectasia, Abnormal heart morphology, Cherry red spot of the ma... ORPHA:93400
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency OMIM:614462
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Mitochondrial Complex I Deficiency, Nuclear Type 29
Dyspnea, Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology OMIM:618250
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Respiratory i... ORPHA:163979
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomy... ORPHA:159
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, High palate OMIM:616549
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cleft palate, Cardiomyopathy, Hypovolemic shock, Respiratory failure, Impaired myoc... ORPHA:158687
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, High, narrow palate, Hepa... ORPHA:228308
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomy... OMIM:300842
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Cardiac conduction abnormality, Cryp... ORPHA:353281
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale ORPHA:88630
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin OMIM:212112
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus ORPHA:171839
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia ORPHA:79279
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Gl... OMIM:618021
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, Pulmonary hyp... OMIM:616897
Tyshchenko Syndrome
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... OMIM:615102
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Acute lymphobla... OMIM:280000
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly ORPHA:3376
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Abnormality of the ... ORPHA:579
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, High, narrow palate, Anomalous... OMIM:616368
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Hepatomegaly, Re... ORPHA:365
Proximal Myopathy With Extrapyramidal Signs
Cardiomyopathy ORPHA:401768
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Atr... OMIM:249420
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Atelectasis, Aspiration, Respiratory insufficiency, Dysphagia... ORPHA:258
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Atrioventricular canal defect, Hydrocephalus, Coarctation of aorta ORPHA:2409
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Hydro... OMIM:130720
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly ORPHA:370959
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... OMIM:602782
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Atrial septal defect, Spina bifida, Cryptorchidism, Patent ductu... ORPHA:567
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:772
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate OMIM:609654
Adult-Onset Distal Myopathy Due To Vcp Mutation
Cardiomyopathy, Reduced vital capacity ORPHA:329478
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy OMIM:300438
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Leukopenia, Atrial septal defect, Patent foramen ovale, Tricuspid regurgita... ORPHA:505248
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Hypotension, Atrial septal def... OMIM:615668
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Dilatation of the ventricular cavity, Respiratory insufficiency ORPHA:363623
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, High palate, Atrial septal ... OMIM:619383
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Splenomegaly, Vasculitis, Multiple gastric polyps, Cardiomyopathy, Prolonged neonat... OMIM:225750
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:612562
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Co... ORPHA:465508
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly OMIM:609757
Fg Syndrome Type 1
Cryptorchidism, Hydrocephalus, Coarctation of aorta, Mitral valve prolapse, Atrial septal defect,... ORPHA:93932
Mucolipidosis Type Ii
Aortic regurgitation, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:576
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Arrhythmia, Hepatic steatosis ORPHA:228305
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Jaundice OMIM:616483
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... ORPHA:3260
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolon, Patent ductus art... ORPHA:2473
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
De Barsy Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Pro... ORPHA:2962
Inverted Duplicated Chromosome 15 Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Respiratory insufficiency due to muscle weakness, Mitral valve prolapse, Cardiomyopathy, Mitral r... OMIM:258450
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Hydrocephalus, Colpo... OMIM:309801
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Malabsorption, Pyloric ste... ORPHA:912
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Hydrocephalus, Ventricular septal defect, Coarctation of aorta ORPHA:268249
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation ORPHA:2328
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Cryptorchidism, Perimembranous ventricular septal defect ORPHA:83617
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Decreased fertility in females, ... ORPHA:79239
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Neonatal respiratory distress, Tricuspid regurgitation, Ventricular septal defect, Patent ductus ... OMIM:618870
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Res... ORPHA:3452
Trisomy 17P
Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus ORPHA:261290
Nephrotic Syndrome, Type 11
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:616730
Restrictive Dermopathy
Dextrocardia, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tubular aorta aneu... ORPHA:1662
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Congestive heart failure, Asthma, Recurrent pneumonia, Hydroceph... OMIM:309900
Toriello-Carey Syndrome
Neonatal respiratory distress, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Coa... ORPHA:3338
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia, Dysphagia OMIM:609286
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... ORPHA:1780
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Cleft palate ORPHA:398156
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy, Prolonged neonatal jaundice OMIM:618437
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:2519
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, Hypoplasi... OMIM:617022
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... OMIM:615219
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Stroke, Hyper... OMIM:611126
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Pneumoni... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Pneumoni... ORPHA:353277
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
Kleefstra Syndrome
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Dyspnea, Pulm... ORPHA:261494
Jansen-De Vries Syndrome
Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... OMIM:123700
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Achalasia, C... ORPHA:324
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy, Recurrent upper respiratory tract infections, Ventricular septal defect ORPHA:3078
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:618577
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Asthma, Pulmonary artery hypoplasia,... OMIM:616777
Constricting Bands, Congenital
Ectopia cordis, Abnormal lung lobation, Cleft palate OMIM:217100
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High palate, Gastroesophageal r... OMIM:617746
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Stroke-like episode, Cardiomyopathy, Dysphagia, Throm... OMIM:222300
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular fun... ORPHA:3208
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Esophageal varix, Hepatocellular a... ORPHA:264580
Gaucher Disease, Type Ii
Apnea, Stridor, Cough, Recurrent aspiration pneumonia, Double aortic arch OMIM:230900
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic steatosis, Hepatic necrosis OMIM:231530
Verheij Syndrome
Cleft palate, Truncus arteriosus, Ventricular septal defect, Renal cyst OMIM:615583
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Filippi Syndrome
Ventricular septal defect OMIM:272440
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Ventricular septal defect, High palate, Atrial septal defect, P... OMIM:618950
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
Woods Syndrome
Ventricular septal defect OMIM:615236
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Intestinal malrotation, Coarctation of aorta,... OMIM:617602
1Q44 Microdeletion Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly ORPHA:238769
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Pneumonia, Respiratory tract infection, Lymphaden... ORPHA:51636
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Respiratory insufficiency ORPHA:1914
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal heart valve morphology, Angina pectoris,... ORPHA:93473
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormal mesentery morphology, Ventricular septal defect ORPHA:2256
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation ORPHA:2143
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology ORPHA:1865
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Dilation of Virchow-Robin spaces OMIM:619951
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic... OMIM:220110
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Wolfram Syndrome
Gastrointestinal hemorrhage, Central apnea, Malabsorption, Abnormal mesentery morphology, Respira... ORPHA:3463
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Abnormality of the liver, Respiratory failure, Hepatocellular carcinoma ORPHA:88618
Wrinkly Skin Syndrome
Cryptorchidism, Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Asthma, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect OMIM:618162
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Hepatic calcification, Cardiomyopathy, Polycystic ki... ORPHA:157
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Gastroesophageal refl... ORPHA:329224
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Recurrent upper respiratory tract in... OMIM:253220
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Bifid uvula, Cleft palate OMIM:608572
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Abnorm... ORPHA:1708
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Abnormal heart morphology OMIM:601499
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Ret... OMIM:613309
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Retinal hemorrhage,... OMIM:614653
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, A... OMIM:153400
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, High palate, Recurrent ... OMIM:300472
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Esophageal atresia, Cleft palate, Atrial septal ... OMIM:610536
Trisomy 13
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation,... ORPHA:3378
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, Inte... ORPHA:250989
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy ORPHA:119
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Hypertrophic cardiomyo... OMIM:618222
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Cleft palate, Gastroesophageal reflux ORPHA:447980
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Cleft palate, Atrial septal defect, Patent foramen ovale, Right ventri... OMIM:614261
Warsaw Breakage Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Patent ductus arteriosus, P... OMIM:300963
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy ORPHA:1215
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... OMIM:310400
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Edinburgh Malformation Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:1895
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy OMIM:617183
3P25.3 Microdeletion Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Pyloric stenosis, Cleft... ORPHA:435638
Congenital Generalized Lipodystrophy
Hepatomegaly, Prominent superficial veins, Congestive heart failure, Polycystic ovaries, Macroglo... ORPHA:528
Agel Amyloidosis
Tongue atrophy, Respiratory tract infection, Xerostomia, Cardiomyopathy, Abnormal spleen morpholo... ORPHA:85448
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Cleft palate OMIM:617201
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:93262
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology ORPHA:2075
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Pleural effusion, Dandy-Walker malformation OMIM:617822
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Pulmonic stenosis, Dysphagia, Atrial septal defect, Hype... OMIM:613706
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Recurrent respiratory infections, Neonatal respiratory distress, Respiratory failu... ORPHA:79345
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse, Hypertension, Aortic root an... OMIM:616914
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cong... OMIM:601808
Orofaciodigital Syndrome V
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... OMIM:174300
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect OMIM:601357
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... OMIM:619573
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Atrial septal def... OMIM:220500
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi... ORPHA:98853
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Anteriorly placed anus... OMIM:617159
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... OMIM:235255
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Ventricular septal defect OMIM:617635
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Abnormal mitochondrial shape, Apnea, Patent ductus arteriosus, Coarctation ... ORPHA:17
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Gastr... OMIM:616449
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macroglossia, High palate, Patent foramen o... ORPHA:369891
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Bifid... ORPHA:404440
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... OMIM:269860
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Gastrointestinal ... ORPHA:436252
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Cong... OMIM:611812
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Enlarged tons... OMIM:607014
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF ly... ORPHA:228123
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Dilated thi... OMIM:619575
Vici Syndrome
Cardiomyopathy, High palate, Recurrent respiratory infections ORPHA:1493
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor OMIM:207950
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-like lysosomal pigmentation, Jau... OMIM:208085
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Cryptorchidism, Hy... ORPHA:2162
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Recurrent upper respiratory tract... OMIM:253200
Myopathy With Extrapyramidal Signs
Splenomegaly, Hepatomegaly, Leukocytosis, Ventricular septal defect OMIM:615673
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect, Velopharyngeal insufficiency OMIM:613680
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coar... OMIM:164210
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Recurrent pneumonia, Arterial rupture, Mitral valve prolapse, Restricti... ORPHA:1900
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp... ORPHA:217085
Galloway-Mowat Syndrome 7
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:618348
King-Denborough Syndrome
High palate, Ventricular septal defect OMIM:619542
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, High palate OMIM:620089
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Crouzon Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:207
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Opitz Gbbb Syndrome
Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Tracheoesophageal fistula, C... ORPHA:2745
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Ventricular sep... ORPHA:79329
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate ORPHA:261190
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Pontocerebellar Hypoplasia, Type 8
Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Dysphagia OMIM:614961
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp... ORPHA:217093
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm OMIM:301039
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, High palate, Transposition of the great arte... OMIM:201000
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Hepatomegaly, Coronary artery atherosclerosis, Abnormal atrioventric... ORPHA:280365
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfu... OMIM:105210
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Poland Syndrome
Encephalocele, Dextrocardia, Cryptorchidism, Atrial septal defect, Spina bifida occulta ORPHA:2911
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Ventricular septal defect, Bicuspid aortic valve, Gast... ORPHA:453499
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jaundice, Cholestatic liver diseas... OMIM:613404
Rere-Related Neurodevelopmental Syndrome
Gastroesophageal reflux, Ventricular septal defect, Dysphagia, Abnormal heart morphology ORPHA:494344
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Dyspnea, Hydrocephalus, Pneumothorax, Chylopericardium, Restrictive ... ORPHA:538
Costello Syndrome
Ventricular septal defect, Narrow palate, Mitral valve prolapse, Macroglossia, Gastroesophageal r... ORPHA:3071
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Respiratory insufficiency due to muscle weakness, Diffuse hepatic steatosis, Hypert... ORPHA:436271
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Dysphagia, Cardiomegaly ORPHA:391428
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Malabsorption, Dyspnea, Cardiomyopathy, Pulmonary fibrosi... ORPHA:79430
Kleefstra Syndrome 1
Recurrent respiratory infections, Protruding tongue, Conotruncal defect, Macroglossia, Gastroesop... OMIM:610253
Tenorio Syndrome
Apnea, Raynaud phenomenon, Hydrocephalus, Recurrent pneumonia, Syncope, Ventriculomegaly OMIM:616260
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Submucous cleft hard palate, ... ORPHA:457279
Ogden Syndrome
Ventricular septal defect, High, narrow palate, Pulmonary artery stenosis, Cardiogenic shock, Arr... ORPHA:276432
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Cleft palate, Coarctation of aorta, Atrial septal def... ORPHA:2008
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Cardiac conduction abnormality, Ga... ORPHA:550
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul... OMIM:619418
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus, Upper airway obstruction OMIM:207410
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Anemia OMIM:618839
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Cleft palate, Polycystic ovaries ORPHA:1770
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Abnormal cardiovascular system physiology, Polycystic ovaries, ... ORPHA:79086
Temple Syndrome
Cryptorchidism, Hydrocephalus ORPHA:254516
Kearns-Sayre Syndrome
Sideroblastic anemia, Cardiomyopathy, Arrhythmia, Third degree atrioventricular block OMIM:530000
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insuffi... ORPHA:98863
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Martsolf Syndrome 1
Recurrent respiratory infections, Cardiac arrest, Congestive heart failure, Cardiomyopathy, High ... OMIM:212720
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Malabsorption, Exocrine pancreatic insufficiency, Dyspnea, Cirrhosis, Hy... OMIM:616539
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Macroglossia, Cardiomyopathy, Aspiration pneumonia, Cherry red spot of the ma... ORPHA:79255
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Protruding tongue, Conotruncal defect, Coarctation of aorta, Macroglossia, ... ORPHA:96147
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Meckel Syndrome, Type 1
Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl... OMIM:249000
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Cholestatic liver disease ORPHA:5
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lym... ORPHA:1655
Marshall-Smith Syndrome
Ventricular septal defect, Apnea, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arterio... OMIM:602535
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... ORPHA:227990
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect OMIM:615879
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Tracheomalacia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalu... ORPHA:96121
Opitz Gbbb Syndrome
Ventricular septal defect, Rectourethral fistula, Cleft palate, High palate, Gastroesophageal ref... OMIM:300000
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... ORPHA:99901
Beck-Fahrner Syndrome
High palate, Ventricular septal defect, Cardiomegaly OMIM:618798
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pneumonia, Atrophic ga... OMIM:615846
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary collateral... OMIM:620025
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Villous atrophy, Pericardial effusion, Renal cyst, Stroke-like episod... OMIM:212065
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Cleft palate, Coarc... OMIM:600460
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy OMIM:611719
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Congestive heart failure, Cardiomegaly OMIM:619259
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean pl... OMIM:222470
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Aortic root aneurysm, ... OMIM:245600
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
H Syndrome
Hydrocephalus, Abnormal cardiovascular system physiology, Bronchiectasis, Varicose veins, Azoospe... ORPHA:168569
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Cleft palate, Mitral regurgitation, Atrial septa... ORPHA:254346
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Hydrocephalus, Respirato... ORPHA:536467
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse OMIM:104350
Craniofacioskeletal Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Interrupted aortic arch, Atr... OMIM:300712
Noonan Syndrome 4
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:610733
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... ORPHA:227982
Bohring-Opitz Syndrome
Bilateral cleft palate, Neonatal respiratory distress, Ventricular septal defect, Intestinal malr... OMIM:605039
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Cleft palate, Atr... ORPHA:96167
Vici Syndrome
Lymphopenia, Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:242840
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate ORPHA:52055
Temple Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size OMIM:616222
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Su... OMIM:614114
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, High palate, Ventricular septal defect OMIM:617452
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Cardiomyopathy ORPHA:521411
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, Bile duct proliferation, Macrovesicular hepatic s... OMIM:618329
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Desmosterolosis
Patent ductus arteriosus, Hydrocephalus, Anomalous pulmonary venous return, Ventriculomegaly ORPHA:35107
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Hypert... OMIM:100300
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Trisomy 8P
Dandy-Walker malformation, Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus, A... ORPHA:264450
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Multicystic kidney dysplasia, Ventricular septal defect, Cleft pal... ORPHA:1393
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Ventricular septal ... OMIM:214100
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Alternating Hemiplegia Of Childhood
Respiratory distress, Abnormality of the gastrointestinal tract, Apnea, Cardiac conduction abnorm... ORPHA:2131
Desmosterolosis
Hydrocephalus, Patent ductus arteriosus, Total anomalous pulmonary venous return, Ventriculomegaly OMIM:602398
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Dysphagia OMIM:618325
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Bone marrow hypocellularity, Neutropenia, Atrial septal defect, Patent... OMIM:609053
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Patent ductus arteriosus, High palate, Dysphagia, Atrial septal defect OMIM:617061
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Atrial... OMIM:244300
Ververi-Brady Syndrome
High palate, Transposition of the great arteries OMIM:617982
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrh... ORPHA:79282
Kury-Isidor Syndrome
High palate, Ventricular septal defect OMIM:619762
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Cholestasis, Hypertension, R... ORPHA:52
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Costello Syndrome
Ventricular septal defect, Tracheomalacia, Hydrocephalus, Pneumothorax, Respiratory insufficiency... OMIM:218040
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Abnormal heart morphology OMIM:239300
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, High palate, Ventricular septal defect ORPHA:505237
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscul... ORPHA:261250
Alg9-Cdg
Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Ventricular septal defect, Pericardial ef... ORPHA:79328
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Tetrasomy 5P
Respiratory distress, Congestive heart failure, Hydrocephalus, Heart murmur, Pulmonary arterial h... ORPHA:3309
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... ORPHA:508542
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Hydrocephalus, Respiratory failure... OMIM:616482
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Pneumonia, Raynaud phenomenon, Gastrointestinal inflammatio... ORPHA:48435
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val... OMIM:609942
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
47,Xyy Syndrome
Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Dandy-W... OMIM:257300
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Renal cyst, Ventricular septal defect, Heart murmur ORPHA:166035
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Retinal telangiectasia OMIM:620157
Colonic Atresia
Abdominal situs inversus ORPHA:1198
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, High palate, Pulmonary artery atresia, Paten... OMIM:620113
Fanconi Anemia
Spina bifida, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Azoospermia, Abnormal card... ORPHA:84
Apert Syndrome
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:101200
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Apnea, Tracheomalacia, Patent ductus arteriosus, Hydrocephalus, Atrial... OMIM:300373
Proteus-Like Syndrome
Venous insufficiency, Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Bifid uvula OMIM:619121
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Hydrocephalus OMIM:612940
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy ORPHA:496790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Short Stature-Micrognathia Syndrome
High palate, Ventricular septal defect, Cleft palate, Gastroesophageal reflux OMIM:617164
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cl... OMIM:617063
Doors Syndrome
Respiratory distress, Cleft palate, Narrow palate, High palate, Gastroesophageal reflux, Aspirati... ORPHA:79500
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Ven... OMIM:614866
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Anemia OMIM:618835
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... ORPHA:3205
Loeys-Dietz Syndrome 5
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... OMIM:615582
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus OMIM:601794
8Q24.3 Microdeletion Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventr... ORPHA:508488
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Patent ductus arteriosus, High palate, Renal cyst OMIM:615398
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongu... ORPHA:464738
Radio-Tartaglia Syndrome
Ventricular septal defect, High, narrow palate, High palate, Gastroesophageal reflux, Dysphagia OMIM:619312
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Hydroce... ORPHA:2072
Renal Agenesis
Hypertension, Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis OMIM:240300
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... ORPHA:96191
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ventricular septal defect OMIM:610832
Cartilage-Hair Hypoplasia
Hepatomegaly, Aganglionic megacolon, Malabsorption, Heart block, Abnormality of the pancreas, Res... ORPHA:175
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Anal stenosis, Ventricular septal defect, Cleft soft palate, Paten... OMIM:117650
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Stroke, Apnea, Ventriculomegaly ORPHA:395
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Tracheomalacia, Spina bifi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Tracheomalacia, Spina bifi... ORPHA:363958
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Atrial septal ... ORPHA:1340
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Coarctation of aor... ORPHA:1692
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
C Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Renal cortical cysts, High palate OMIM:211750
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, High palate, Ventricular septal defect, Patent foramen ovale OMIM:270450
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymph... ORPHA:85450
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Cryptorchidism, Mitral valve prolapse, Mitral regurgitation, ... ORPHA:2462
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Apnea, Ventriculomegaly OMIM:614969
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Ventricular septal defect, Pulmonary hypoplasia, Cleft palate OMIM:612530
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic re... ORPHA:255210
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Methylcobalamin Deficiency Type Cble
Hypertension, Hydrocephalus, Ventriculomegaly ORPHA:2169
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue, Int... OMIM:263520
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... OMIM:229850
Autosomal Recessive Malignant Osteopetrosis
Apnea, Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Hydrocephalus, Chronic rhi... ORPHA:667
Gorlin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:377
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, High, narrow p... ORPHA:261330
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Respiratory insufficiency ORPHA:1237
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Aortic aneurysm, Mitral valve prolapse OMIM:182212
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... ORPHA:355
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration ORPHA:220497
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Pancytopenia, Anemia, Dysphagia OMIM:607426
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Tachypnea, Apnea ORPHA:2318
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Patent ductus arteriosus, Cle... OMIM:610443
Trichothiodystrophy
Ventricular septal defect, Recurrent bronchopulmonary infections, High, narrow palate, Increased ... ORPHA:33364
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft palate, Submucous cleft hard palate, Ventricular septal defect, Dysplastic pulmo... OMIM:619103
Mucopolysaccharidosis Type 3
Cardiomegaly, Hydrocephalus, Upper airway obstruction, Atrioventricular block, Reduced left ventr... ORPHA:581
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618810
Charge Syndrome
Aortic arch aneurysm, Aqueductal stenosis, Cryptorchidism, Patent ductus arteriosus, Respiratory ... ORPHA:138
Hallermann-Streiff Syndrome
Cryptorchidism, Congestive heart failure, Respiratory insufficiency, Abdominal situs inversus, Tr... ORPHA:2108
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl... OMIM:619488
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Abnormal aortic arch morpho... ORPHA:96334
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Pallister-Hall Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Preductal coarctation of the... OMIM:146510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus OMIM:615249
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Hydrocephalus, Retinal telangiectasia OMIM:620155
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var... ORPHA:309854
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hyd... ORPHA:261337
Jacobsen Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect OMIM:147791
Noonan Syndrome 14
Aortic regurgitation, High, narrow palate, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic... OMIM:619745
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Hydrocephalus OMIM:187600
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... OMIM:269200
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Leigh Syndrome
Ventricular septal defect, Congestive heart failure, Gastrointestinal dysmotility, Dysphagia, Res... ORPHA:506
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Ventricular septal defect, Intestinal malrotation, Coarctation of ... OMIM:244450
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aqueductal stenosis, Patent ductus arteriosus, Hydrocephalus, Tetralog... OMIM:154400
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Asthma, Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Pulmonary artery stenosis, Gastroeso... OMIM:300998
Achondroplasia
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus ORPHA:15
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, High palate, Ventricular septal defect OMIM:309520
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Hypertension, Pulmona... OMIM:245150
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... OMIM:616894
Filippi Syndrome
Ventricular septal defect ORPHA:3255
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect ORPHA:217346
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia OMIM:615503
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Hydrocephalus, Dilated cardiomyopathy, Mi... ORPHA:2556
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphology, Cardiomyopathy, Hepatic st... ORPHA:98907
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Ventricular septal defect, Cleft palate ORPHA:251038
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, High palate, Thrombocytopenia, Dysphagia ORPHA:572798
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism, Hydrocephalus, Hypertension ORPHA:1555
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Vent... ORPHA:1272
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect, Cleft palate OMIM:106260
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia, Respiratory insufficiency OMIM:620351
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Ventriculomegaly OMIM:616546
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Recurrent upper respiratory ... ORPHA:1465
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Holoprosencephaly ORPHA:2166
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Abnormal cardiac... ORPHA:90652
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Respiratory insufficiency, Arrhythmia OMIM:614052
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop... ORPHA:124
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Coarctation of aorta, Abnormal cardiac septum morphology, Ventricu... ORPHA:2322
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, Neonatal ... OMIM:312870
Intellectual Developmental Disorder, Autosomal Dominant 53
Gastrointestinal dysmotility, Ventricular septal defect, Intestinal malrotation, Duodenal atresia OMIM:617798
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis OMIM:115150
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect OMIM:617360
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Cleft pala... OMIM:618454
Jacobsen Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Intest... ORPHA:2308
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Telangiectasia of the skin, Ventricular septal defect, Patent ductu... ORPHA:2092
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation, Renal cyst, Abnormal heart... ORPHA:369837
Joubert Syndrome 2
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Episodic tachypnea, Hydrocephalus... OMIM:608091
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Oral-pharyngeal dysphagia, Ventricular tachycardia, Torsade de pointes, Hypertrop... OMIM:616878
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Cryptorchidism, Abnormal cardiac septum morphology, Abdominal si... ORPHA:280
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Ascen... OMIM:617403
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Hypertension, Vascular dilatation OMIM:311200
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia, Gastroesophageal reflux, Arrhythmia, Dysphagia, Hypertrophic cardiomyopathy OMIM:615471
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Friedreich Ataxia
Cardiomyopathy, Dysphagia ORPHA:95
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Atrial sept... OMIM:619512
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy, Hep... ORPHA:71212
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly ORPHA:2189
Isolated Complex I Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Respiratory insufficiency ORPHA:2609
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Cardiomyopathy ORPHA:206549
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hydrocephalus, Renovascular hypertension... ORPHA:3472
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Multicystic kidney dysplasia, Ventricul... ORPHA:373
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Cleft palate, High pa... OMIM:610759
Pfeiffer Syndrome Type 2
Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia ORPHA:93259
Hajdu-Cheney Syndrome
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus OMIM:102500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus, Ventriculomegaly OMIM:616538
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Phelan-Mcdermid Syndrome
Ventricular septal defect, Patent ductus arteriosus, High palate, Gastroesophageal reflux, Polycy... OMIM:606232
Ulnar-Mammary Syndrome
Ventricular septal defect, Pyloric stenosis, Ectopic anus, Arrhythmia, Anal atresia ORPHA:3138
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, P... OMIM:122470
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphology OMIM:227646
Hemangioblastoma
Hydrocephalus ORPHA:252054
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
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Mend Syndrome
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Aortic valve stenosis, Dandy-Walker mal... ORPHA:401973
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Neonatal respiratory distress, Cerebral he... ORPHA:666
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia,... OMIM:274000
Distal Deletion 19P
Cleft palate, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Tuberous Sclerosis Complex
Respiratory distress, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Hypertension, Respirat... ORPHA:805
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Re... OMIM:618268
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation OMIM:222448
Apert Syndrome
Hypertension, Ventriculomegaly, Hydrocephalus, Respiratory insufficiency ORPHA:87
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Mitral regurgitation, Pulmoni... OMIM:277600
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Rabson-Mendenhall Syndrome
Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Macroglossia, High palate, Atrial sep... ORPHA:769
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prol... ORPHA:363700
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Hydrocephalus OMIM:259710
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy OMIM:201470
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Apnea, Portal hypertension, Hydrocephalus, Abnormal pattern of respiration ORPHA:1454
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti... OMIM:135500
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Apnea, Splenomegaly, Concentric hypertrophic cardiomyopathy, Respiratory insufficie... OMIM:252010
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Communicating hydrocephalus, Patent ductus arteriosus, Stroke, Ventriculome... OMIM:618188
16P13.11 Microdeletion Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Cleft palate ORPHA:261236
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, Ventricular septal defect, Gastroesophageal reflux, Dysphagia, Recurrent low... OMIM:619229
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Paralytic ileus, Pancreatic isle... OMIM:276700
Alexander Disease
Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Hypertension... ORPHA:58
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Familial Visceral Myopathy
Abdominal situs inversus ORPHA:2604
Alagille Syndrome 1
Ventricular septal defect, Hepatocellular carcinoma, Multiple small medullary renal cysts, Choles... OMIM:118450
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Patent ductus arteriosus, Hydrocephalus, Aortic valve... ORPHA:955
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Coarctation o... OMIM:270400
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, High, narrow palate, Asthma, Respiratory insufficiency, Macroglossia, ... ORPHA:488632
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal fistu... OMIM:301030
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... ORPHA:25
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Abnormal heart morphology OMIM:305450
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Ventriculomegaly ORPHA:457284
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft palate, Macroglossia, ... OMIM:614609
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Abnorm... ORPHA:1507
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... ORPHA:352665
Semilobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart morphology, Abnormal heart rate variability, Neural ... ORPHA:93924
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Muenke Syndrome
Hydrocephalus ORPHA:53271
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root ... ORPHA:90324
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension, Hydrocephalus, Ventriculomegaly OMIM:123790
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... OMIM:300967
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Recurre... OMIM:252500
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect OMIM:619306
Lateral Meningocele Syndrome
High, narrow palate, High palate, Ventricular septal defect ORPHA:2789
Duane-Radial Ray Syndrome
Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Vascular dilatation, Atrial sept... OMIM:607323
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, High palate, Gastroesophageal ... OMIM:613457
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Codas Syndrome
Ventricular septal defect, Gastroesophageal reflux, Rectovaginal fistula, Atrial septal defect, A... OMIM:600373
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hi... OMIM:163950
15Q Overgrowth Syndrome
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Da... ORPHA:314585
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries, Cardiomyopathy, Cirrhosis, He... OMIM:608594
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, P... OMIM:607872
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Ventricular septal hyper... OMIM:269700
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Renal cyst OMIM:250410
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus ORPHA:220295
Kabuki Syndrome 1
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Lateral ventricle... OMIM:147920
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... OMIM:227650
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1812
Arachnoiditis
Hydrocephalus ORPHA:137817
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Abnormal... OMIM:114290
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Increased hepatocellular lipid droplets, Microvesicular he... OMIM:220111
Cohen Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, High, narrow palate, Mitral valve pr... ORPHA:193
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Rena... ORPHA:464306
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... OMIM:227645
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... OMIM:619475
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Patent duc... OMIM:616682
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th... ORPHA:3474
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Penile Agenesis
Ventricular septal defect, Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Bilatera... ORPHA:49
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation... ORPHA:438213
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Narrow palate, Mit... OMIM:608328
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Respiratory insufficie... OMIM:139210
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma OMIM:109400
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm ORPHA:96201
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Achondroplasia
Respiratory distress, Hydrocephalus, Upper airway obstruction OMIM:100800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Furrowed tongue, High palate, Ga... OMIM:616975
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Hydrocephalus OMIM:618590
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Gastroesop... ORPHA:464311
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:904
Monosomy 9Q22.3
Hydrocephalus, Cardiac fibroma, Ventriculomegaly ORPHA:77301
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia ORPHA:91348
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Mend Syndrome
Cryptorchidism, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal de... OMIM:607721
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... ORPHA:2729
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Protruding tongue OMIM:212066
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose vei... OMIM:617107
Peters Plus Syndrome
Cryptorchidism, Patent ductus arteriosus, Bicuspid pulmonary valve, Hydrocephalus, Abnormal pulmo... ORPHA:709
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Pseudoaminopterin Syndrome
Asplenia, High palate, Patent foramen ovale ORPHA:221120
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Ventricular septal defect, Cleft palate ORPHA:251028
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:616268
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis,... ORPHA:818
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Renal cortical cysts, Cardiomyopathy, Macrogl... OMIM:130650
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect, Cleft palate OMIM:178110
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Usher Syndrome
Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology ORPHA:886
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Submucous ... ORPHA:3047
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect, Chronic neutropen... ORPHA:500095
Robinow Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Bifid tongue, Abnormal heart morphology,... ORPHA:97360
Trisomy 18
Ventricular septal defect, Esophageal atresia, Narrow palate, Cleft palate, Atrial septal defect,... ORPHA:3380
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Hydrocephalus, Ventriculomegaly OMIM:259720
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Telangiectasia of the skin OMIM:616007
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Thrombocytopenia, Splenomegaly, Incre... OMIM:619525
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Larsen Syndrome
Ventricular septal defect, Tracheomalacia, Cleft palate, Atrial septal defect, Aortic aneurysm OMIM:150250
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect OMIM:609460
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion ORPHA:1546
Teebi-Shaltout Syndrome
High, narrow palate, Aortic valve stenosis, Ventricular septal defect, Cleft palate OMIM:272950
Leopard Syndrome 1
Bundle branch block, Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse,... OMIM:151100
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Cardiomyopathy, Cholecystitis, Hepa... ORPHA:98908
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Dubowitz Syndrome
Cryptorchidism, Asthma, Hydrocephalus, Respiratory insufficiency, Spina bifida occulta ORPHA:235
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Ventriculomegaly OMIM:612651
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Osteootohepatoenteric Syndrome
Asthma, Hydrocephalus OMIM:619377
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, A... OMIM:257920
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus ORPHA:3301
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis OMIM:162200
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Pa... OMIM:617140
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Cerebral artery stenosis, Abnormal internal carotid artery morphology... ORPHA:97685
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, High, ... ORPHA:466791
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Crouzon Syndrome
Hydrocephalus OMIM:123500
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Aicardi-Goutières Syndrome
Cardiomegaly, Raynaud phenomenon, Neonatal alloimmune thrombocytopenia, Calcification of the aort... ORPHA:51
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Anal atresia OMIM:273395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, D... OMIM:236670
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Cleft palate ORPHA:251014
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus ORPHA:300570
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Meningioma
Cerebral hemorrhage, Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pul... ORPHA:2495
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Telangiectasia of the skin, Abnormal venous morphology, Abnormal cerebral vascu... ORPHA:276280
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Tracheobronchomalacia, Tetralogy of Fallot, Bifi... OMIM:613458
Townes-Brocks Syndrome 1
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect... OMIM:107480
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Otopalatodigital Syndrome, Type Ii
Spina bifida, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Atri... OMIM:304120
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Vater/Vacterl Association
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... OMIM:192350
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Cleft palate ORPHA:2710
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Cleft pa... ORPHA:1724
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Cryptorchidism, Patent ductus arteriosus, Pulm... OMIM:235730
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Bicuspid aortic valve, Pulmonary artery sling, Aganglionic megacolo... ORPHA:2152
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Epistaxis, Cryptorchidism, Patent ductus arteriosus, Asthma, Mild fe... OMIM:619841
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Asplenia, Cleft hard palate, Abnormality of the pulmonary artery, Bifid uv... ORPHA:261552
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus OMIM:101800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmona... ORPHA:261537
Microphthalmia, Syndromic 3
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Vacterl With Hydrocephalus
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:3412
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cyst of the ductus choledochus, Patent ductus arteriosus, Cleft palate, Car... ORPHA:480880
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef... OMIM:608670
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ... ORPHA:1519
Cockayne Syndrome A
Cryptorchidism, Hypertension, Normal pressure hydrocephalus, Arrhythmia, Persistent left superior... OMIM:216400
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft ... ORPHA:268261
Microphthalmia With Limb Anomalies
Venous insufficiency, Cryptorchidism, Hydrocephalus ORPHA:1106
Cystic Fibrosis
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Pancreatitis, E... OMIM:219700
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus, Abnormal heart morphology OMIM:219000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septal defect, Cleft palate ORPHA:1071
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Pneumonia, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, D... OMIM:264090
Coffin-Siris Syndrome 12
Cryptorchidism, Noncommunicating hydrocephalus, Heart murmur, Tetralogy of Fallot, Patent foramen... OMIM:619325
Craniopharyngioma
Hydrocephalus, Cerebral ischemia, Myocardial infarction ORPHA:54595
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Atrial septal defect, Ventriculomegaly OMIM:194190
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Perlman Syndrome
Cryptorchidism, Interrupted aortic arch OMIM:267000
Femoral-Facial Syndrome
Ventricular septal defect, Cleft palate, Gastroesophageal reflux, Polycystic kidney dysplasia, Pu... OMIM:134780
Mohr Syndrome
Hydrocephalus OMIM:252100
Peters-Plus Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Pulmonic sten... OMIM:261540
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Hydrocephalus, Hypertension, Oligozoospermia ORPHA:95699
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Cleft palate, Macroglossi... ORPHA:116
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Williams-Beuren Syndrome
Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retin... OMIM:194050
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Partial anomalous pulmonary venous return, Cleft palate, Gastroesophag... OMIM:301044
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Duodenal ulc... OMIM:135900
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lun... OMIM:236680
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Cleft palate, Mitral regurgitation, High palate... OMIM:271640
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Neurofibromatosis Type 1
Cryptorchidism, Hydrocephalus, Hypertension, Arterial stenosis ORPHA:636
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Mitral regurgitation, Pneumonia, Aortic regurgitation ORPHA:309282
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Raine Syndrome
Hydrocephalus OMIM:259775
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Gastr... ORPHA:459070
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia, Transpos... OMIM:256520
Genitopatellar Syndrome
Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Malrotation of small bowe... OMIM:606170
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglott... OMIM:615948
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Microglossia, Respir... ORPHA:672
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Camurati-Engelmann Disease
Hepatomegaly, Splenomegaly, Leukopenia, Hypertrophic cardiomyopathy, Anemia ORPHA:1328
Stromme Syndrome
Hydrocephalus OMIM:243605
Omodysplasia 1
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglott... ORPHA:434179
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Cryptorchidism, Congenital malformation of the left heart, Hydrocephalus, ... ORPHA:3455
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Asthma, Recurrent pneumonia, High palate, Bifid uvula, Recurrent bronc... OMIM:620330
Chromosome 13Q14 Deletion Syndrome
High palate, Ventricular septal defect, Patent foramen ovale OMIM:613884
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Hypertrophic car... OMIM:124000
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encep... OMIM:268300
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Abnormal heart morphology OMIM:218600
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Intestinal malrotation, Pyloric stenosis... ORPHA:199
Leprechaunism
Hepatomegaly, Hypertrophic cardiomyopathy, Rectal prolapse, Megarectum ORPHA:508
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Ulnar-Mammary Syndrome
Anal stenosis, Ventricular septal defect, Pyloric stenosis, Arrhythmia, Anal atresia OMIM:181450
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Cleft palate ORPHA:1934
Yunis-Varon Syndrome
Ventricular septal defect, Pyloric stenosis, Heart murmur, Cardiomyopathy, High palate, Aspiratio... OMIM:216340
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Cockayne Syndrome B
Cryptorchidism, Arrhythmia, Normal pressure hydrocephalus, Hypertension OMIM:133540
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus ORPHA:2658
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Holoprosencephaly 9
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:610829
Sotos Syndrome
Ventricular septal defect, Aganglionic megacolon, Small cell lung carcinoma, Patent ductus arteri... ORPHA:821
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Focal Dermal Hypoplasia
Cryptorchidism, Hydrocephalus, Myelomeningocele, Telangiectasia, Spina bifida occulta OMIM:305600
Proboscis Lateralis
High palate, Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Pallister-Killian Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Renal... OMIM:601803
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Patent ductus arteriosus, High palate, Dysphagia, Atrial septal defect OMIM:619522
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus OMIM:208150
Oeis Complex
Cryptorchidism, Myelomeningocele, Hydrocephalus OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Decreased testicular size OMIM:619321
Pmm2-Cdg
Respiratory distress, Pericarditis, Angina pectoris, Pericardial effusion, Abnormal liver parench... ORPHA:79318
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus ORPHA:3042

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.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term hypoplasia Odad2em1(IMPC)Mbp HOM Early adult

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 Odad2.

No publications found that use IMPC mice or data for Odad2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Odad2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Odad2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Odad2em1(IMPC)Mbp Exon Deletion Mice, Tissue

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