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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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Histopathology

Images

4 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
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615451
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... 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
Reduced respiratory ciliary beating frequency, Situs inversus totalis, Absent outer dynein arms, ... OMIM:618300
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615451
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Gastroesophageal reflux, Ciliary dyskinesia, Recurrent sinu... OMIM:615482
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Abnormal ciliary motility, Recurrent pn... OMIM:611884
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis, Atelectasis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory in... OMIM:615872
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Immotile cilia, Bronchiectasis OMIM:615481
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:616037
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615504
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Transposition of the great arteries, Atrioventricular canal defect, Dextr... OMIM:605376
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615505
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Ciliary dyskinesia, Recurrent bronchitis, Recurrent sinusitis, Immotile c... OMIM:613193
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:614874
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615500
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Pulmonary insufficiency, Ciliary dyskinesia, Abnormal ciliary motility, B... OMIM:614017
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory i... OMIM:614679
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Ciliary dyskinesia, Abnormal ciliary motility, Recurrent pneu... OMIM:613807
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:615444
Ciliary Dyskinesia, Primary, 10
Ciliary dyskinesia, Situs inversus totalis, Abnormal respiratory motile cilium morphology OMIM:612518
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:614935
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Spermatogenic Failure 17
Male infertility OMIM:617214
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Ciliary dyskinesia, Immotile cilia, Bronchiectasis, Recurrent respiratory... OMIM:616481
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Situs inversus totalis, Dextrocardia, Immotile cilia OMIM:618063
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch... OMIM:618254
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Immotile cilia, Bronchiectasis, Recurre... OMIM:606763
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Pneumonia OMIM:612444
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:620197
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:608647
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis OMIM:300991
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Atelectasis... OMIM:615067
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Ciliary Dyskinesia, Primary, 12
Ciliary dyskinesia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:612650
Nephronophthisis 16
Situs inversus totalis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis, Hypertroph... OMIM:615382
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis OMIM:620032
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
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis, Recurrent respir... OMIM:613808
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricula... ORPHA:216694
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
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
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Mirror Movements 3
Situs inversus totalis OMIM:616059
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Gastroesophageal reflux, Stroke, Cardiomyopathy, Sideroblastic anemia, Th... OMIM:249270
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Hepatomegaly, Truncus arteriosus, Cholestasis, Hy... OMIM:615415
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ... OMIM:620570
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Hypoglossia With Situs Inversus
Situs inversus totalis, High palate, Asplenia, Microglossia, Polysplenia OMIM:612776
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Meckel diverticulum, Pancreatic hyp... ORPHA:1666
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Atelectasis, Ciliary dyskinesia, Recurrent bronchitis, Asplenia, Bronchie... OMIM:244400
Ciliary Dyskinesia, Primary, 35
Abdominal situs ambiguus, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis OMIM:617092
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
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
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Abnormal ciliary motility, Ciliary dyskinesia, Abnormal respi... OMIM:610852
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis OMIM:620438
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Intes... OMIM:619608
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, High pa... OMIM:619657
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m... ORPHA:185
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly, Gastroesophageal reflux OMIM:619881
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Pulmonic stenosis, Mitral val... OMIM:609008
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Pulmonary se... ORPHA:3097
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Pulmonary artery ... ORPHA:1908
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Vascular dilatation, Abnormal... ORPHA:99095
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Heterotaxy, Visceral, 5, Autosomal
Intestinal malrotation, Right atrial isomerism, Ascending tubular aorta aneurysm, Total anomalous... OMIM:270100
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Ciliary dyskinesia, Recurrent bronchit... OMIM:616726
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Accessory spleen, Interrupte... OMIM:618280
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis OMIM:619436
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Ciliary dyskinesia, Recurrent pneumonia, Atelectasis OMIM:615294
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ... OMIM:613255
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Double Outlet Right Ventricle
Heterotaxy, Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Aplasia/Hypoplasia of the ... ORPHA:3426
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Polycystic kidney dysplasia, Hypert... OMIM:613095
Ciliary Dyskinesia, Primary, 11
Ciliary dyskinesia, Recurrent sinusitis, Immotile cilia, Bronchiectasis, Recurrent respiratory in... OMIM:612649
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Intestinal malrotation, Duodenal... ORPHA:1759
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Bronchiectasis, Situs inversus totalis OMIM:615434
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Pulmonary arterial hypertension, Total anomalous ... OMIM:106700
Skraban-Deardorff Syndrome
Ventriculomegaly, Right aortic arch, Ventricular septal defect OMIM:617616
Meckel Syndrome, Type 7
Situs inversus totalis, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal hype... OMIM:267010
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Renal-Hepatic-Pancreatic Dysplasia 1
Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation, Aortic valve ste... OMIM:208540
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Cardiomyopathy, Familial Hypertrophic, 28
Left atrial enlargement, Systolic anterior motion of the mitral valve, Concentric hypertrophic ca... OMIM:619402
Ciliary Dyskinesia With Defective Radial Spokes
Ciliary dyskinesia, Nasal polyposis, Immotile cilia, Absent respiratory ciliary axoneme radial sp... OMIM:242670
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Heterotaxy OMIM:618781
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Hydrocephalus, Aplasia of posterior c... OMIM:613686
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... OMIM:611880
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Transposition of the great arteries, Atrioventricular canal defect, Esophageal atresia... OMIM:314390
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism... OMIM:306955
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Immotile cilia OMIM:618801
Retinitis Pigmentosa 6
Recurrent respiratory infections, Immotile cilia OMIM:312612
Agnathia-Otocephaly Complex
Situs inversus totalis, Cleft palate, Secundum atrial septal defect, Pulmonary hypoplasia, Microg... OMIM:202650
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Reduced respiratory cili... OMIM:617091
Nephronophthisis 2
Situs inversus totalis, Pulmonary insufficiency, Hypertension, Renal cortical microcysts, Pulmona... OMIM:602088
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Systolic heart... OMIM:617478
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Dextrocardia, Anal atresia, Patent ductus arteriosus ORPHA:2863
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Stroke, Cardiomyopathy, Left ventricular hypertrophy OMIM:611556
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Meacham Syndrome
Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary venous conne... OMIM:608978
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pu... OMIM:620294
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... OMIM:300845
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Tachycardia... ORPHA:980
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Left-to-right shunt... ORPHA:363444
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Cardiomyopathy ORPHA:63273
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Spina bifida occul... OMIM:617877
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic... OMIM:618845
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Bilateral lung agenesis, Hy... OMIM:601186
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy OMIM:615395
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Renal cyst OMIM:615994
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of ... OMIM:220210
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Dysphagia ORPHA:89844
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Vascular ring, Ventriculomegaly, Atrial septal defect, Ventricular septal defect, ... OMIM:603387
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
Sandestig-Stefanova Syndrome
Ventriculomegaly, Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... OMIM:600987
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left... ORPHA:2326
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:179613
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect, Ventriculomegaly OMIM:618205
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Developmental And Epileptic Encephalopathy 66
Anemia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Neutropenia OMIM:618067
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Mesenteric cyst, Gastroesophageal reflux, Recurrent respiratory infection... OMIM:618316
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, ... OMIM:601927
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Houge-Janssens Syndrome 3
Ventriculomegaly, Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ... ORPHA:2299
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Aganglionic megacolon, Atrioventricular canal defect, ... ORPHA:210122
Primary Pulmonary Hypoplasia
Pneumothorax, Dextrocardia, Secundum atrial septal defect, Cleft palate, Pulmonary hypoplasia, Re... ORPHA:2257
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Portal inflammation, Pulmonary artery atresia, Hepatic bridging fibrosis, Le... OMIM:613759
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Cardiomyopathy ORPHA:320360
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic... OMIM:613172
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Vascular dilatation, Ventricular arrhythmia, Impaired myocardial contra... OMIM:600884
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia, Recurrent respiratory infections ORPHA:1882
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype... ORPHA:3400
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy, Multicystic kidney dysplasia ORPHA:1909
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Recurrent respiratory infections OMIM:253300
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Atrial septal defect, Aortic aneurysm, Multiple muscular ventricular septal... OMIM:620070
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Poland Syndrome
Dextrocardia OMIM:173800
Barth Syndrome
Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis ORPHA:111
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Holoprosencephaly ORPHA:990
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Glossoptosis, Hepatomegaly OMIM:614876
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Dysphagia OMIM:255100
Pagod Syndrome
Situs inversus totalis, Encephalocele, Meningocele, Abnormal aortic morphology, Spina bifida, Pul... ORPHA:991
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Dysphagia, Patent ductus arteriosus, Ventricular septal... OMIM:616276
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol... OMIM:614676
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Coarctation of aorta, Holoprosence... OMIM:264480
Joubert Syndrome
Hydrocephalus, Situs inversus totalis, Encephalocele ORPHA:475
Ellis Van Creveld Syndrome
Acute leukemia, Situs inversus totalis, Atrioventricular canal defect, Emphysema, Dextrocardia, A... ORPHA:289
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Myopathy, Distal, 4
Cardiomyopathy OMIM:614065
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100
Proximal 16P11.2 Microdeletion Syndrome
Abnormal aortic valve morphology, Dextrocardia, Gastroesophageal reflux, Pyloric stenosis, Cleft ... ORPHA:261197
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect, Tricuspid regurgitation OMIM:611376
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Congenital Tracheomalacia
Patent ductus arteriosus, Right aortic arch, Pulmonary arterial hypertension, Double aortic arch,... ORPHA:95430
Nemaline Myopathy 9
Ventricular septal defect, Cleft palate, High palate OMIM:615731
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Sotos Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Ventriculomegaly, Atrial septal def... OMIM:117550
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Mosaic Trisomy 9
Abnormal lung lobation, Dextrocardia, Abnormal liver lobulation, Abnormal heart valve morphology,... ORPHA:99776
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dila... OMIM:602390
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Fadd-Related Immunodeficiency
Hepatic fibrosis, Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hepatic ... OMIM:613313
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Lef... OMIM:613876
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnormal heart morphol... ORPHA:477817
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Hydrocephalus, Abnormalit... ORPHA:2306
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Heart murmur, Atrial septal d... OMIM:158170
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta, Atrioventricular canal defect, Dextrocardia, Tricuspid regurgitation OMIM:618929
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:302045
Atrial Standstill
Ischemic stroke, Sick sinus syndrome, Congestive heart failure, Reduced left ventricular ejection... ORPHA:1344
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... OMIM:132900
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Abnormal heart morphology, Colpocephaly ORPHA:2185
Dandy-Walker Malformation With Postaxial Polydactyly
Vascular dilatation, Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Dilated fou... OMIM:220220
Marden-Walker Syndrome
High, narrow palate, Dextrocardia, High palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison... OMIM:248700
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Cleft palate, Pulmonary hypoplasia, Ventricular ... OMIM:615524
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Glossitis, Megaloblastic anemia, High palate, T... OMIM:277380
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology ORPHA:922
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure, Hydrocephalus OMIM:300886
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Hepatomegaly, Recurrent respiratory infections, Atrial ... ORPHA:75249
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Marden-Walker Syndrome
Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Pyloric stenosis, ... ORPHA:2461
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Hypertension OMIM:166990
Johanson-Blizzard Syndrome
Anemia, Dextrocardia, Anal atresia, Exocrine pancreatic insufficiency, Anteriorly placed anus, Ab... ORPHA:2315
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Hsd10 Disease, Neonatal Type
Abnormality of the liver, Hypertrophic cardiomyopathy ORPHA:391457
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe... OMIM:108900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Coarctation of aorta, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia, Recurren... OMIM:620210
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricula... OMIM:613874
Grange Syndrome
Aortic regurgitation, Hypertension, Arterial stenosis, Patent ductus arteriosus, Ventricular sept... ORPHA:79094
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Hadziselimovic Syndrome
Ventricular hypertrophy, High palate, Pulmonary artery atresia, Anal atresia, Tetralogy of Fallot... OMIM:612946
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Cleft palate, Glossoptosis ORPHA:1388
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Coronary artery fistula, Cleft palate, Ventricular septal defect... OMIM:614294
Diabetic Embryopathy
Transposition of the great arteries, Hydrocephalus, Abnormal aortic morphology, Tetralogy of Fall... ORPHA:1926
Mirage Syndrome
Anemia, Gastroesophageal reflux, Lymphopenia, Aspiration pneumonia, Hypoplastic spleen, Leukopeni... OMIM:617053
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Heart block, Cardiomyopathy ORPHA:98912
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Pulmonary sequestration, Intesti... ORPHA:2847
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency ORPHA:199302
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Renpenning Syndrome
Anal atresia, High, narrow palate, Cleft palate, Heterotaxy ORPHA:3242
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, R... OMIM:619424
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmo... OMIM:619433
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Anemia, Abnormal aortic morphology, Intestinal atresia, Vent... ORPHA:3405
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Ventriculomegaly, Perimembranous ventricular septal defect, Colpocep... OMIM:618651
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged QT interval ORPHA:66634
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Stroke-like episode, Hypoplastic spleen, Thrombocytopenia,... OMIM:185070
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Floating-Harbor Syndrome
Mesocardia, Gastroesophageal reflux, Polycystic kidney dysplasia, Epididymal cyst, Renal cyst, Pe... ORPHA:2044
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Hepatocellular carcinoma, Portal hypertension, Hypertrophic cardiomyopathy, ... OMIM:619902
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Takayasu Arteritis
Abnormal endocardium morphology, Gastrointestinal infarctions, Abnormal aortic valve morphology, ... ORPHA:3287
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Cleft palate, Tetralogy of Fallot, Multiple renal cysts, Abnormality ... ORPHA:1166
Adams-Oliver Syndrome 6
Truncus arteriosus, Esophageal varix, Portal hypertension, Tricuspid regurgitation, Splenomegaly,... OMIM:616589
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Congestive heart failure, Hydrocephalus, Increased CSF lactate, Hyperglycorrhach... ORPHA:90065
Czeizel-Losonci Syndrome
Pulmonary hypoplasia, High palate, Dextrocardia, Tracheoesophageal fistula ORPHA:2437
Distal Nebulin Myopathy
Cardiomyopathy, High palate ORPHA:399103
Noonan Syndrome 12
Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ventricular septal defect, Anteriorly placed ... OMIM:618624
Distal Myotilinopathy
Cardiomyopathy ORPHA:98911
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Coarctation of aorta, Atrioventricular block, Mitral valve prolapse, Bicuspid aorti... ORPHA:371428
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Tibial Muscular Dystrophy, Tardive
Cardiomyopathy OMIM:600334
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Aortic regurgitation, Tr... ORPHA:508498
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy OMIM:608099
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Pulmonary artery atresia, Pulmonic stenosis, Leukopenia, Thrombocytopenia, Double o... OMIM:301056
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Spina bifida occulta OMIM:619227
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Asplenia, Pulmonic stenosis, Cleft palate, Ventricular septal defe... OMIM:619123
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Congenital Myopathy 24
Cardiomyopathy, High palate, First degree atrioventricular block OMIM:617336
Meckel Syndrome
Situs inversus totalis, Multicystic kidney dysplasia, Accessory spleen, Furrowed tongue, Asplenia... ORPHA:564
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pleuritis, Hypertension, Cardiomyopathy, Pericarditis,... ORPHA:767
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Arrhythmia ORPHA:35
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Aortic valve atresia, Hydrocephalus, Dandy-Walker malfor... OMIM:619895
Timothy Syndrome
Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis, Patent foramen ovale, Pulmonary arteri... OMIM:601005
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Cleft palate, Ventricular septal defect, Recurrent viral upper respiratory ... OMIM:616898
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy ORPHA:868
Alg12-Cdg
Muscular ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventriculomeg... ORPHA:79324
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, Patent ductus arteriosus, Atri... OMIM:614846
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Hydrocephalus, Patent ductus arteriosus OMIM:614886
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Aortic aneurysm, Abnormal ST segment, Myocardial sarc... OMIM:612422
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Intestinal malrotation, Abnormal heart morphology, ... ORPHA:401935
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:232400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Ventricular septal defect OMIM:602501
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Maternal Phenylketonuria
Esophageal atresia, High palate, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fa... ORPHA:2209
Floating-Harbor Syndrome
Mesocardia, Epididymal cyst, Persistent left superior vena cava, Coarctation of aorta, Celiac dis... OMIM:136140
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Hoxha-Aliu Syndrome
Atrial septal defect, Perimembranous ventricular septal defect OMIM:620662
Down Syndrome
Aganglionic megacolon, Atrioventricular canal defect, Partial anomalous pulmonary venous return, ... OMIM:190685
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv... OMIM:265380
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Multiple muscular ventricular sep... ORPHA:391641
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, High palate, Patent ductus arteriosus ORPHA:261120
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Spermatogenic Failure 77
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia OMIM:620103
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus, Communicating h... ORPHA:2184
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu... OMIM:616652
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Pulmonary sequestration, Patent ductus arteriosus OMIM:618330
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Giant Cell Arteritis
Gastrointestinal infarctions, Mediastinal lymphadenopathy, Recurrent pharyngitis, Glossitis, Vasc... ORPHA:397
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia ORPHA:3469
Holt-Oram Syndrome
Abnormal coronary artery origin, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ve... OMIM:142900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Gne Myopathy
Cardiomyopathy ORPHA:602
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Pleu... OMIM:235200
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Mitral valve prolapse, Azoospermia ORPHA:2183
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Gastroesophageal reflux, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F, ... OMIM:619769
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Megaloblastic anemia, Stroke, Cardiac arrest, Paroxysmal atrial tachyca... ORPHA:49827
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Fumarase Deficiency
Mitochondrial swelling, Perimembranous ventricular septal defect, Choroid plexus cyst, Ventriculo... OMIM:606812
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Abnormality of the lymphatic system, Dysphagia, Hypertrophic cardiomyopathy ORPHA:638
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Cardiomyopathy ORPHA:26792
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cardiomyopathy, Myofiber disarray OMIM:301075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy OMIM:613155
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:126320
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Global systolic dysfunction OMIM:606842
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Coarctation of aorta, Ventri... ORPHA:2876
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Impaired lymphocyte transform... OMIM:243150
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy, Left ventricul... ORPHA:171445
Pearson Syndrome
Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol... ORPHA:699
Congenital Disorder Of Glycosylation, Type Iie
Congestive heart failure, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:608779
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Neutropenia, Decreased proportion of class-switched memory B cell... OMIM:619705
Alpha-B Crystallin-Related Late-Onset Myopathy
Cardiomyopathy, Dysphagia ORPHA:399058
Monosomy 18Q
Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Hydrocephalus, Aor... ORPHA:1600
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Cardiomyopathy OMIM:608807
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Dilated fourth ventricle, Coarctation of aorta, Abnormal... ORPHA:261183
Prune Belly Syndrome
Atrial septal defect, Recurrent respiratory infections, Anal atresia, Intestinal malrotation, Vol... ORPHA:2970
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Decreased hepatic echogenicity, Cardiomyopathy OMIM:613752
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... ORPHA:1727
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:618236
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Vascular dilatation OMIM:219730
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Stroke, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutr... ORPHA:79312
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, High, narrow palate, Truncus arteriosus, Abnormal aortic morphology, Clef... ORPHA:2516
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Dextrocardia, Abnormal heart morphology, Tetralogy of Fallot, Aplasia/Hypopl... ORPHA:96092
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Knobloch Syndrome
Pyloric stenosis, Lymphangioma, Dextrocardia, Patent ductus arteriosus ORPHA:1571
Joubert Syndrome With Ocular Defect
Hydrocephalus, Dextrocardia, Encephalocele ORPHA:220493
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Cardiomyopathy ORPHA:67048
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Arrhythmia, Hepatic steatosis OMIM:606069
American Trypanosomiasis
Myocarditis, Congestive heart failure, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Card... ORPHA:3386
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Abnorma... ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy OMIM:609308
Congenital Toxoplasmosis
Cardiomegaly, Ventriculomegaly, Hydrocephalus ORPHA:858
Li-Campeau Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:619189
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Abnormal aortic morphology, Cardiomyopathy, Arrhythmia ORPHA:3222
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Cardiomegaly, Patent foramen o... OMIM:300855
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Congestive heart failu... ORPHA:330001
Atrial Standstill 2
Vascular dilatation, Bradycardia, Stroke, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ve... OMIM:615745
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus, Ventriculomegaly, Atri... ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy OMIM:615352
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hydrocephalus OMIM:269920
Fetal Trimethadione Syndrome
Transposition of the great arteries, High palate, Tetralogy of Fallot, Atrial septal defect, Vent... ORPHA:1913
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Cleft palate, Ventricular septal defect ORPHA:94066
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Alg1-Cdg
Abnormal heart morphology, Protein-losing enteropathy, Cardiomyopathy, Abnormality of the gastroi... ORPHA:79327
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Wolff-Parkinson-White s... OMIM:618234
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Arteriovenous malformation, Hydrocephalus, Arteriovenous fistula, Perip... ORPHA:137667
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Hydrocephalus, Patent ductus ar... OMIM:313850
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hydrocephalus, Dandy-Walker m... ORPHA:7
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy ORPHA:1369
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect OMIM:147800
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency,... ORPHA:1667
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa... ORPHA:732
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
Diets-Jongmans Syndrome
Ventricular septal defect, Heterotaxy, Interrupted inferior vena cava with azygous continuation OMIM:618846
Intellectual Developmental Disorder, X-Linked 112
Bicuspid aortic valve, Right aortic arch, Abnormal heart morphology OMIM:301111
Hemochromatosis, Type 3
Cirrhosis, Anemia, Cardiomyopathy, Lymphopenia, Neutropenia OMIM:604250
Neurooculorenal Syndrome
Aqueductal stenosis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Hydrocephalus, Pa... OMIM:620305
Atelis Syndrome 1
Anemia, High palate, Leukopenia, Thrombocytopenia, Bronchiectasis, Atrial septal defect, Ventricu... OMIM:620184
Renpenning Syndrome 1
Situs inversus totalis, High palate, Anal atresia, Cleft palate, Tetralogy of Fallot, Atrial sept... OMIM:309500
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy, High palate, Dysphagia ORPHA:329336
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Delpire-Mcneill Syndrome
Ventricular septal defect, Dysphagia, Tracheoesophageal fistula OMIM:619083
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Cleft palate, Ventricular septal defect OMIM:601355
Lambert Syndrome
Jaundice, Ventricular septal defect, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch, Meningocele OMIM:620511
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Stroke-like episo... ORPHA:70472
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Gracile Bone Dysplasia
Hypoplastic spleen, Ankyloglossia, Asplenia OMIM:602361
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly, Dilated cardiomyopathy ORPHA:272
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine lev... OMIM:212140
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Recurrent pneumonia, Splenomegaly, E... OMIM:616651
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Atrial septal ... OMIM:611134
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Dysplastic tri... OMIM:157800
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology ORPHA:1110
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation, Hypertrophic cardiomyopathy, Patent ductus arteriosus, ... OMIM:612938
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cherr... OMIM:256550
Glycogen Storage Disease Iv
Cirrhosis, Bradycardia, Esophageal varix, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly OMIM:232500
Sarcosinemia
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy OMIM:618237
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Hepatic fibrosis, Coarctatio... OMIM:606003
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Patent foramen ovale, Tetralogy of Fallot, Patent ductu... OMIM:612582
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Hydrocephalus, Patent foramen ovale, Hypertension, Coarctatio... OMIM:210710
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, Hepatocellular carc... ORPHA:369
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Tricuspid atresia, Biliary atresia, Meckel diverticulum, Ventricul... OMIM:115470
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Gastroesophageal reflux ORPHA:228399
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Venou... ORPHA:90308
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly, Atrial septal defect, Patent ductus arteriosus ORPHA:2655
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Noonan Syndrome 8
Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertrophy, P... OMIM:615355
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hepatomegaly, Dysphagia, Hypertrophic cardiomyopathy OMIM:613561
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Microvesicular hepatic steatosis, Noncompaction ... OMIM:610198
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Atrial flutter, Left bundle branch block, Coronary art... ORPHA:439232
X-Linked Intellectual Disability, Nascimento Type
Abnormal vena cava morphology, Patent foramen ovale, Pulmonary arterial hypertension, Mitral sten... ORPHA:163956
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Hypertension, Patent ductus arteriosus, Tachycardia, Atrial septal defect,... OMIM:613870
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Spina bifida occulta, Patent foramen ovale, Aortic isth... OMIM:180849
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Patent ductus arteriosus ORPHA:1516
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal heart morphology, Dysphagia, Abnormal cardiac atrium morpho... ORPHA:85443
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia ORPHA:48
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Patent ductus arteriosus, Dysplastic pulmonary valve, Hydrocephalus... OMIM:612863
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Patent foramen ovale, Colpocephaly, Patent... OMIM:301043
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Hydrocephalus, Abnormal pericardium morphology, Tetralogy of Fallot, ... ORPHA:1335
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy ORPHA:2701
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Alg3-Cdg
Dandy-Walker malformation, Neural tube defect, Cardiomyopathy, Coarctation of the descending aort... ORPHA:79321
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal... ORPHA:284169
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem... ORPHA:848
Joubert Syndrome 18
Intrahepatic biliary atresia, Renal cyst, Cleft palate, Lobulated tongue, Ventricular septal defect OMIM:614815
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Abnormal aortic morphology, Ventri... ORPHA:392
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t... OMIM:614823
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, High palate, Secundum atrial sept... OMIM:616866
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Emanuel Syndrome
Hydrocephalus, Dandy-Walker malformation, Truncus arteriosus, Pulmonic stenosis, Aortic valve ste... OMIM:609029
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Cystic renal dysplasia, Hepatomegaly OMIM:613730
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Arrhythmia, Abnormal cerebral vascular morpho... ORPHA:363705
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Carpenter Syndrome 2
Narrow palate, Situs inversus totalis, High, narrow palate, Transposition of the great arteries, ... OMIM:614976
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia, Pulmonic ste... OMIM:618223
Kawasaki Disease
Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Jaundice, Abnormal pulmonary int... ORPHA:2331
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis ORPHA:3449
Cyclic Vomiting Syndrome
Cardiomyopathy, Gastrointestinal dysmotility OMIM:500007
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Methimazole Embryofetopathy
Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctation of aorta, ... ORPHA:1923
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Ple... OMIM:261740
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep... OMIM:618652
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus ORPHA:77298
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Hypertension, Asplenia, Epistaxis, Coombs-positive hemolytic anemi... OMIM:614034
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Cardiomyopathy OMIM:619566
Fried Syndrome
Hydrocephalus ORPHA:85335
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Hydrocephalus, Abnormal heart morphology, Arrhythmia, Atriove... ORPHA:398124
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Abnormal heart morphology OMIM:276950
Kleeblattschaedel
Hydrocephalus OMIM:148800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Left ventricular hypertrophy OMIM:613153
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Leukopenia, Thrombocytopenia ORPHA:27
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus OMIM:619301
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Hypopla... OMIM:619503
Fanconi Anemia, Complementation Group B
Hydrocephalus, Coarctation of aorta, Patent ductus arteriosus, Ventriculomegaly, Ventricular sept... OMIM:300514
Myopathy, Myofibrillar, 4
Cardiomyopathy OMIM:609452
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Hypertension, Intracranial ... OMIM:614424
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Macrocytic anemia OMIM:619046
Ring Chromosome 7 Syndrome
Situs inversus totalis, Ventriculomegaly, Holoprosencephaly, Heart murmur ORPHA:1449
6P22 Microdeletion Syndrome
Hydrocephalus, Patent ductus arteriosus ORPHA:251046
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Atrial septal defect, Abnormal heart morphology OMIM:175700
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pericarditis, Congestive heart failure ORPHA:163596
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary stenosis, Aortic valve ... OMIM:618164
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly, Ventricular septal defect OMIM:615630
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Distal Triplication 15Q
Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology, Pat... ORPHA:314588
Serkal Syndrome
Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Duchenne Muscular Dystrophy
Cardiomyopathy ORPHA:98896
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, High palate OMIM:314320
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Bradycardia, Ventricular hypertrophy, Cardiomyopathy, Cardiac arrest, Premature ven... OMIM:212138
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Syn... ORPHA:276556
Collagenoma, Familial Cutaneous
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card... OMIM:115250
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocytic anemia, Reticuloc... OMIM:615550
Mullegama-Klein-Martinez Syndrome
Apical muscular ventricular septal defect, Coarctation of aorta, Hypoplastic left heart OMIM:301022
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Foc... ORPHA:276575
Hec Syndrome
Arrhythmia, Cardiomyopathy, Communicating hydrocephalus, Endocardial fibroelastosis ORPHA:2119
Familial Bicuspid Aortic Valve
Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Hypertension, Aortic ar... ORPHA:402075
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Patent ductus arteriosus, Increased mean corpuscular volume, Extramedullary hematopoiesis... OMIM:617021
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Coarctation of aorta, Cleft p... OMIM:618494
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:263630
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... OMIM:619472
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Encephalocele, Hydrocephalus, Pulmonary ... ORPHA:974
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, High palate ORPHA:3369
Microphthalmia, Syndromic 2
Dextrocardia, Hypoplastic aortic arch, Dandy-Walker malformation, Pulmonic stenosis, Aortic valve... OMIM:300166
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly, Atrial septal defect, Ventricular sept... OMIM:614576
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation, Atrial septal defect, Ventricular septal defect, Periph... OMIM:613001
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Catel-Manzke Syndrome
Dextrocardia, High palate, Glossoptosis, Coarctation of aorta, Bifid uvula, Cleft palate, Overrid... OMIM:616145
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:252011
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Myocardial necrosis, Atrial ar... OMIM:300257
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, High palate, Patent ductus arteriosus, Atrial septal defect, Hypoplast... OMIM:618142
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventriculomegaly, Right aortic arch, Ventricular septal defect ORPHA:513456
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Gaucher Disease, Type Iiic
Calcification of the aorta, Hydrocephalus, Mitral valve calcification, Mitral stenosis, Aortic va... OMIM:231005
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Vitreous hemorrhage, Mele... ORPHA:464321
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia, Hypertrophic cardiomyopathy OMIM:620326
Fryns Syndrome
Abnormal aortic arch morphology, Dandy-Walker malformation, Abnormal aortic morphology, Tetralogy... ORPHA:2059
Alagille Syndrome 2
Cholestatic liver disease, Hypertension, Cholestasis, Renal cyst, Pulmonic stenosis, Tetralogy of... OMIM:610205
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic stenosis, Myocardial ... OMIM:253800
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Intrahepatic cholestasis, Vascular dilatation, Hepa... OMIM:243800
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Hydrocephalus, Arteriovenous fistula, Abnormal facial... ORPHA:97339
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac ventricle morphology,... ORPHA:261311
Sengers Syndrome
Cardiac arrest, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Thrombocytopenia, S... OMIM:212350
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Oligozoospermia ORPHA:3000
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Wolff-Parkinson-White syndrome, ... OMIM:619343
Feingold Syndrome 1
Gastrointestinal atresia, Tricuspid atresia, Annular pancreas, Esophageal atresia, Accessory sple... OMIM:164280
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis,... ORPHA:79083
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Dandy-Walker malformation, Ventricular septal defect OMIM:616920
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Anemia, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Patent ductu... ORPHA:1842
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Jaundice, Hepatomegaly, Prolonged QT interval, Tachycardia, Patent foramen ... ORPHA:26793
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus, Abdominal situs inversus OMIM:618699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c... OMIM:619051
Emanuel Syndrome
Hydrocephalus, Dandy-Walker malformation, Truncus arteriosus, Pulmonic stenosis, Aortic valve ste... ORPHA:96170
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Syn... ORPHA:276580
Syndromic Diarrhea
Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Aortic regurgitation... ORPHA:84064
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Cleft palate, Thrombocytopenia, Ventricular septal defect, Aortic v... OMIM:619980
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Coronary artery atherosclerosis, Angina pe... OMIM:264800
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Roifman Syndrome
Lymphadenopathy, Noncompaction cardiomyopathy, Recurrent pneumonia, Hepatosplenomegaly, Eosinophilia ORPHA:353298
Childhood-Onset Nemaline Myopathy
Cardiomyopathy, High palate, Neuromuscular dysphagia ORPHA:171439
Autosomal Recessive Progressive External Ophthalmoplegia
Cardiomyopathy, Dysphagia ORPHA:254886
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent sinusitis, Recurrent respir... ORPHA:85202
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Reduced left ventricular ejection fra... OMIM:201475
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Hepatomegaly, Cardiomyopathy ORPHA:2394
Myopathy, Myofibrillar, 6
Restrictive cardiomyopathy, Mitral regurgitation, Hypertrophic cardiomyopathy OMIM:612954
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Arteriovenous malformation, Hydrocephalus, Cerebral ischemia, Telangiectasia of the skin, Arrhyth... ORPHA:60040
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Cholelithiasis, Bradycardia, Hypertrophic card... OMIM:618775
Isolated Klippel-Feil Syndrome
Ectopic anus, Cleft palate, Ventricular septal defect, Anal atresia ORPHA:2345
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, High palate, Gastroesophageal reflux OMIM:300590
8P23.1 Microdeletion Syndrome
Transposition of the great arteries, Atrioventricular canal defect, High palate, Abnormal aortic ... ORPHA:251071
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Cholestasis, Leukocytosis, P... ORPHA:292
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Ventricular septal defect OMIM:214300
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Aortic aneurysm, Cerebral hemorrhage, Bicuspid aortic valve, Antenatal intracerebra... ORPHA:536545
Distal Deletion 15Q
Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Coarctation of aorta, Cleft ... ORPHA:1596
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Trisomy X
Atrial septal defect, Ventricular septal defect, Multicystic kidney dysplasia ORPHA:3375
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Meckel di... ORPHA:141127
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hepatic steatosis, Hypertrophic cardiomyopathy OMIM:619386
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Bradycardia, High palate, Hypoplasia of the thymus, Median cleft p... ORPHA:40366
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Cardiomyopathy, Cholestasis, Leu... OMIM:615895
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Charge Syndrome
Patent ductus arteriosus, Right aortic arch, Pulmonary artery atresia, Pulmonic stenosis, Secundu... OMIM:214800
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Abnormal heart morphology, Recurrent pneumonia, Patent ductus arteriosus, B... ORPHA:500159
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Hypertroph... ORPHA:2348
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti... OMIM:620609
Barth Syndrome
Congestive heart failure, Hypochromic microcytic anemia, Recurrent bronchitis, Endocardial fibroe... OMIM:302060
Gm1 Gangliosidosis
Congestive heart failure, Gastroesophageal reflux, Ventricular septal defect, Cardiomyopathy, Asp... ORPHA:354
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypoplastic aortic arch, Aortic root aneurysm, Dandy-Walker malformation, Patent foramen ovale, R... OMIM:617506
Transketolase Deficiency
Hepatomegaly, Patent foramen ovale, Renal cyst, Abnormal coronary artery course, Abnormal heart m... ORPHA:488618
Congenital Sialidosis Type 2
Hydrocephalus, Abnormal heart morphology, Cherry red spot of the macula, Abnormal EKG, Telangiect... ORPHA:93400
Tetrasomy 9P
Dextrocardia, Juxtaductal coarctation of the aorta, Hydrocephalus, Dandy-Walker malformation, Pat... ORPHA:3310
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, High palate OMIM:616549
Myopathy, Myofibrillar, 2
Dysphagia, Hypertrophic cardiomyopathy OMIM:608810
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Mitral regurgitation ORPHA:88630
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Hydrocepha... ORPHA:137675
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Hypertension, Myocarditis, Pulmonary artery stenosis, Telangi... ORPHA:3342
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy OMIM:300438
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr... OMIM:611878
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Left ventricular hypertrophy ORPHA:86812
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Ventricul... OMIM:616034
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Hypertrophic cardiomyopathy, Telangiectasia ORPHA:79279
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:618228
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Intestinal obstruction, Congestive heart failure, Gastroesophageal reflux, Vasculiti... ORPHA:183
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Telangiectasia of the skin, Mitral regurgitation OMIM:212112
Trisomy 1Q
Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus ORPHA:261344
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Acanthoc... OMIM:300842
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Abnormal jugular vein morphology, Reduced left ventricular ejecti... ORPHA:1677
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hepatomegaly, Hypertrophic cardiomyop... ORPHA:1194
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Hepatomegaly, Pulmonary artery stenosis, Acute lymphoblastic... OMIM:280000
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins, Glossoptosis, Ankyloglossia, Cleft palate, ... OMIM:618021
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy OMIM:618241
Tyshchenko Syndrome
Narrow palate, High, narrow palate, High palate, Pulmonic stenosis, Cleft palate, Atrial septal d... OMIM:615102
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Angina pectoris, Renal artery athero... ORPHA:565612
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia, Ventricular septal defect OMIM:612528
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Pontocerebellar Hypoplasia, Type 17
Gastroesophageal reflux, Secundum atrial septal defect, Dysphagia, Patent ductus arteriosus, Vent... OMIM:619909
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Dilated fourth ventricle, Ventriculomegaly ORPHA:370959
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Hypotension, Patent ductus arteriosus, Atrial se... OMIM:615668
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia OMIM:266500
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Frank-Ter Haar Syndrome
Patent foramen ovale, High palate, Secundum atrial septal defect, Mitral valve prolapse, Double o... OMIM:249420
Infantile Refsum Disease
Hepatomegaly, Cardiomyopathy, Arrhythmia ORPHA:772
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Gastroesophageal reflux ORPHA:544469
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Cleft palate, High palate OMIM:609654
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Secundum atrial septal defect,... OMIM:612562
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Aganglionic megacolon, Ventricular septal defect, Patent ductu... ORPHA:452
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly, Ventriculomeg... OMIM:615219
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Hepatic steatosis ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 9
Patent foramen ovale, Hepatomegaly, Hepatic steatosis, Hypertrophic cardiomyopathy OMIM:614582
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Normochromic anemia, Hypertension, Cardiomyopathy... ORPHA:247691
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Renal artery stenosis, Generalized arterial calcification... OMIM:208000
Infantile Liver Failure Syndrome 2
Jaundice, Cardiomyopathy OMIM:616483
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Recurrent respiratory infections, Elevated bronchoalveolar lavage fluid lymphocyte p... OMIM:610978
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ectopic anus, High palate, Anal atresia, Cleft palate, Tetralogy of Fallot... ORPHA:2473
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Cardiomyopathy, Thromboc... OMIM:606054
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, High palate, Tetralogy of Fallot ORPHA:3306
Kagami-Ogata Syndrome
Hepatomegaly, Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary hypoplasia, Splenomeg... OMIM:608149
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Microvesicular hepatic steatosis, Stroke, Hypertrophic cardiomyopathy, ... OMIM:611126
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly, Atrial septal defect, Patent ductus arteriosus ORPHA:1860
Developmental And Epileptic Encephalopathy 75
Prolonged neonatal jaundice, Cardiomyopathy OMIM:618437
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul... ORPHA:465508
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Dysphagia, Bradycardia OMIM:609286
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Recurrent respi... OMIM:617303
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Gastroesophageal reflux OMIM:617450
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao... OMIM:610168
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Histiocytoid cardiomyopathy, Colpocephaly, Arrhythmia, Overriding aorta, Atrial se... OMIM:309801
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hepatomegaly, Abnormal heart valve morphology, Vacuolated lymphocytes, ... OMIM:230500
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Patent ductus arteriosus ORPHA:171839
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Intracranial hemorrhage ORPHA:398189
Restrictive Dermopathy
Atrial septal defect, Transposition of the great arteries, Dextrocardia, Ascending tubular aorta ... ORPHA:1662
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Tachycardia, Pulmonar... OMIM:614921
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C... ORPHA:75565
Trisomy 17P
Aortic valve stenosis, Patent ductus arteriosus, Hydrocephalus, Hypoplastic left heart ORPHA:261290
Lethal Congenital Contracture Syndrome 10
Narrow palate, High palate, Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypopl... OMIM:617022
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Thrombocytopenia, Splenome... OMIM:225750
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Communicatin... ORPHA:1780
Kapur-Toriello Syndrome
Intestinal malrotation, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2328
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly, Abnormal cardiac septum morphology ORPHA:3376
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Aortic aneurysm, Patent ductus arteriosus, Bicuspid aortic valve, Ven... OMIM:130720
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy, Cleft palate, High palate OMIM:616730
Oculoauriculofrontonasal Syndrome
Cleft palate, Ventricular septal defect ORPHA:398156
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Median cleft palate, Hyposegmentation of neutrophil n... OMIM:169400
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Sweeney-Cox Syndrome
Gastroesophageal reflux, Patent foramen ovale, High palate, Median cleft palate, Anal atresia, As... OMIM:617746
Constricting Bands, Congenital
Abnormal lung lobation, Ectopia cordis, Cleft palate OMIM:217100
Lowry-Maclean Syndrome
Hydrocephalus, Coarctation of aorta, Atrioventricular canal defect ORPHA:2409
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, ... ORPHA:3208
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:608358
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic necrosis, Hepatic steatosis, Hypertrophic cardiomyopathy OMIM:231530
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Patent foramen ovale, High palate, Atrial septal defect, Ventri... OMIM:618950
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Hypertrophic cardiomyopathy, Cleft palate, Pulmonary hypoplasia, Cardiomegaly, ... OMIM:616897
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Jaundice, Hepatomegaly, Secondary amenorrhea, ... ORPHA:79239
Noonan Syndrome 10
High palate, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular h... OMIM:616564
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Esophageal varix, Chole... ORPHA:264580
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Bronchiti... ORPHA:1199
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:156
Wolfram Syndrome 1
Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Stroke-like episode, Thrombocytopenia... OMIM:222300
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Recurrent pneumonia, Ventricular septal defect, Patent ductus arteriosus OMIM:617751
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Abnormal cardiac septum morphology ORPHA:238769
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Vascular dilatation, Angina pectori... ORPHA:758
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Dandy-Walker malformation, Atrial septal defect, Hydrocephalus ORPHA:459061
Woods Syndrome
Ventricular septal defect OMIM:615236
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Infection associated neutropenia, Cardiomyopathy, Renal cyst, Bone marrow hypocellu... ORPHA:445038
Filippi Syndrome
Ventricular septal defect OMIM:272440
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, Patent ductus arteriosus OMIM:609757
Donnai-Barrow Syndrome
Intestinal malrotation, Ventricular septal defect ORPHA:2143
Verheij Syndrome
Truncus arteriosus, Cleft palate, Ventricular septal defect, Renal cyst OMIM:615583
Hermansky-Pudlak Syndrome 1
Cardiomyopathy, Inflammation of the large intestine, Hematochezia, Epistaxis, Pulmonary fibrosis,... OMIM:203300
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Gastroesophageal reflux, Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, A... ORPHA:329224
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal mesentery morphology ORPHA:2256
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Hepatomegaly, Polycystic kidney dysplasia, Cardiomyopathy, Hepatic peri... ORPHA:26791
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Cardiomyopathy, Congestive heart failure ORPHA:52430
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Hypertrophic cardiomyo... OMIM:613673
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Single coronary artery origin, Ab... ORPHA:1708
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Macroglossia OMIM:616789
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventr... ORPHA:444013
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, High palate OMIM:619995
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Vascul... ORPHA:353281
D-2-Hydroxyglutaric Aciduria 1
Cardiomyopathy, Aortic regurgitation OMIM:600721
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Secundum atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619951
Burn-Mckeown Syndrome
Atrial septal defect, Bifid uvula, Ventricular septal defect, Cleft palate OMIM:608572
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy ORPHA:119
Agel Amyloidosis
Cardiomyopathy, Abnormal spleen morphology, Respiratory tract infection, Orthostatic hypotension ... ORPHA:85448
Fg Syndrome Type 1
Hydrocephalus, Pulmonary arterial hypertension, Coarctation of aorta, Mitral valve prolapse, Vent... ORPHA:93932
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Cardiac arrest, High palate, Hypertrophic cardiomyopathy, Myofiber disarray OMIM:604377
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hy... ORPHA:308552
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Abnormal mitral valve morph... ORPHA:903
Warsaw Breakage Syndrome
Ventricular septal defect, High palate, Tetralogy of Fallot OMIM:613398
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Trisomy 13
Abnormal lung lobation, High, narrow palate, Cleft palate, Multiple renal cysts, Patent ductus ar... ORPHA:3378
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, High palate, Hypertrophic cardiomyopathy OMIM:619053
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy ORPHA:1215
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Hypertension, Cholestasis... OMIM:301068
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy OMIM:617183
Digeorge Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Truncus arteriosus, Tetra... OMIM:188400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Cardiomyopathy, Leukopenia, Thrombocytopenia, ... OMIM:251000
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Noonan Syndrome 7
Abnormal esophagus morphology, Hypertrophic cardiomyopathy, Pulmonic stenosis, Impaired oropharyn... OMIM:613706
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Cleft palate, Right ventricular hypertrophy, Atrial septal defect, Ventricu... OMIM:614261
Orofaciodigital Syndrome V
Aganglionic megacolon, High palate, Ventricular septal defect, Ankyloglossia, Cleft palate, Bifid... OMIM:174300
Ritscher-Schinzel Syndrome 2
High palate, Pulmonary artery hypoplasia, Intestinal malrotation, Protruding tongue, Patent ductu... OMIM:300963
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Tricuspid atresia, Abnormal aortic valve morphology, Abnormal aortic... ORPHA:567
Congenital Generalized Lipodystrophy
Congestive heart failure, Cirrhosis, Hepatomegaly, Hypertrophic cardiomyopathy, Polycystic ovarie... ORPHA:528
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Lymphadenopathy, Retroperitoneal fibrosis, Pancreatic hypopla... OMIM:602782
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Recurrent aspiration pneumonia, Gastroesophageal reflux ORPHA:79243
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatomegaly, Pancreatic lymphangiectasis, High palate, Cleft palate,... OMIM:235255
De Barsy Syndrome
Hypoplastic aortic arch, Prominent veins on trunk, Patent ductus arteriosus, Persistent left supe... ORPHA:2962
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, High palate, Ventricular septal defect, Abnormal heart morphology, Macroglo... ORPHA:369891
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry, Aortic root aneurysm, Hypertension, Mitral valve pr... OMIM:616914
3P25.3 Microdeletion Syndrome
High, narrow palate, Coronary artery atherosclerosis, Pyloric stenosis, Pulmonic stenosis, Cleft ... ORPHA:435638
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Refsum Disease
Heart block, Cardiomyopathy, Splenomegaly ORPHA:773
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Interrupted aortic arch, Heart murmur, Intracranial hemorrhage, Patent ductus arte... ORPHA:163979
Hurler Syndrome
Hepatomegaly, Aortic regurgitation, Cardiomyopathy, Enlarged tonsils, Hepatosplenomegaly, Splenom... OMIM:607014
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Gastrointestinal atresia, Rectal abscess, Peritoneal abscess, Abnorm... ORPHA:436252
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Gastroesophageal reflux OMIM:617635
Vici Syndrome
Cardiomyopathy, Recurrent respiratory infections, High palate ORPHA:1493
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect OMIM:601357
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
High palate, Cleft palate, Patent ductus arteriosus, Atrial septal defect, Ventricular septal def... OMIM:220500
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Sifrim-Hitz-Weiss Syndrome
Coarctation of aorta, Bifid uvula, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal d... OMIM:617159
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:254913
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Castleman Disease
Intestinal obstruction, Abnormality of the gastrointestinal tract, Jaundice, Mediastinal lymphade... ORPHA:160
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal gastrointestinal tract morphology, Intestinal malrotation, Bifid uvula, Abnormal heart m... ORPHA:404440
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Cle... OMIM:611812
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Hematochezia, Lateral ventricle dilatation, Ventricular s... OMIM:619575
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227990
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension, Decreased heart rate variability OMIM:105120
Noonan Syndrome 2
Abnormal coronary artery origin, Atrioventricular canal defect, Patent foramen ovale, Cardiomyopa... OMIM:605275
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef... ORPHA:97214
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:250989
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hepatomegaly, Heart block, Polycystic kidney dysplasia, Cardiomyopathy, Abno... ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Mitral regurgitation OMIM:301039
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Abnormality of the tonsils, Hyper... ORPHA:93473
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, High palate OMIM:620089
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia, Cardiomyopathy OMIM:617710
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
King-Denborough Syndrome
Ventricular septal defect, High palate OMIM:619542
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hepatomegaly, High palate, Hypertrophic cardiomyopathy, Recurrent respirato... OMIM:619383
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Coarctation of aorta, Ventricular septal defect ORPHA:268249
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Aortic regurgitation ORPHA:2181
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Renal cyst OMIM:614922
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Abnormal heart morphology OMIM:601499
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Intrahepatic biliary atresia, Patent f... OMIM:208085
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Aortic root aneurysm, High palate, Anal atresia, Intestinal malrotation,... OMIM:617602
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Myopathy With Extrapyramidal Signs
Ventricular septal defect, Leukocytosis, Splenomegaly, Hepatomegaly OMIM:615673
Beaulieu-Boycott-Innes Syndrome
Velopharyngeal insufficiency, Ventricular septal defect, Patent ductus arteriosus OMIM:613680
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Cardiomyopathy, Stroke-like episode, Orthostatic hypotension due to autonomic dy... OMIM:105210
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Right aortic arch, Coarctation of aorta, Tetralogy of Fal... OMIM:164210
Coach Syndrome 2
Hydrocephalus, Hypertension OMIM:619111
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hydrocephalus, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmo... ORPHA:505248
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Abnormal subclavian artery morphology, Patent foramen oval... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Abnormal subclavian artery morphology, Patent foramen oval... ORPHA:353277
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Galloway-Mowat Syndrome 7
Ventricular septal defect, Dilated cardiomyopathy, Cleft palate, High palate OMIM:618348
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Carpenter Syndrome 1
Transposition of the great arteries, High palate, Pulmonic stenosis, Tetralogy of Fallot, Patent ... OMIM:201000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Dysphagia, Mitral valve prolapse, Mitral regurgitation OMIM:258450
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Gastroesophageal reflux, Intestinal malrotation, Cleft palate, Patent ductus arteriosus, Atrial s... ORPHA:457193
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Whim Syndrome
Atelectasis, Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Bronchiectasis, Recurrent ... ORPHA:51636
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Vascular d... ORPHA:500
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Pulmonary arterial... ORPHA:2396
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Cardiomyopathy, Pericarditis, Arrhythmi... ORPHA:93672
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Hsd10 Disease, Infantile Type
Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Gastrointestinal dysmotility ORPHA:391428
Limb Body Wall Complex
Ectopia cordis, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele... ORPHA:2369
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Heart murmur, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:615418
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect, Dysphagia, Gastroesophageal reflux OMIM:614961
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hepatomegaly, Pancreatitis, Coron... ORPHA:280365
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Costello Syndrome
Narrow palate, Gastroesophageal reflux, Ventricular septal defect, Hypertrophic cardiomyopathy, P... ORPHA:3071
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Cleft palate, Ventricular septal defect ORPHA:261190
Ogden Syndrome
High, narrow palate, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia, Ventricular septal... ORPHA:276432
Genitopalatocardiac Syndrome
Hydrocephalus, Abnormal cardiac septum morphology ORPHA:2075
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Acrocardiofacial Syndrome
Truncus arteriosus, Anal atresia, Coarctation of aorta, Cleft palate, Tetralogy of Fallot, Mitral... ORPHA:2008
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus OMIM:617516
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Anemia OMIM:618839
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect ORPHA:83617
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Bifid uvula, Recurrent aspiration pneumonia, Recurrent pneumonia, Patent ductus arte... OMIM:300472
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Ventricular septal defect, Dysphagia, Gastroesophageal reflux ORPHA:494344
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Anomalous pulmonary venous re... OMIM:616368
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Patent foramen ovale, High palate, Pyloric stenosis, Abnormal heart morphol... ORPHA:457279
Noonan Syndrome 5
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia OMIM:611553
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly OMIM:614120
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatomegaly, Abnormal cardiovascular system physiology, Hypertension, Acute pancreati... ORPHA:79086
Kleefstra Syndrome
Gastroesophageal reflux, Ventricular septal defect, Renal cyst, Pyloric stenosis, Pulmonary arter... ORPHA:261494
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hydrocephalus, Hypotension, Pericarditis, Myocardial in... ORPHA:3452
Poland Syndrome
Acute leukemia, Atrial septal defect, Abnormality of the liver, Dextrocardia ORPHA:2911
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Right ventricular hypert... OMIM:613404
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Atrial septal defect, Ve... OMIM:618870
Mucolipidosis Type Ii
Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Patent foramen o... ORPHA:576
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Cholestasis, Cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Left ... ORPHA:746
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:5
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatomegaly, Pancreatic lymphangiectasis, High palate, Hepatosplenom... ORPHA:1655
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Protruding tongue, Aortic valve stenosis, Coarctation o... ORPHA:96147
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiomyopathy, Thrombocytopenia, D... ORPHA:99901
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Tricuspid regurgitation OMIM:615879
Cooper-Jabs Syndrome
Ventricular septal defect, Anteriorly placed anus ORPHA:1488
Kearns-Sayre Syndrome
Sideroblastic anemia, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Toriello-Carey Syndrome
Aganglionic megacolon, Cardiomyopathy, High palate, Pulmonic stenosis, Coarctation of aorta, Clef... ORPHA:3338
Down Syndrome
Narrow palate, Aganglionic megacolon, Atrioventricular canal defect, Gastroesophageal reflux, Abn... ORPHA:870
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227982
Noonan Syndrome 6
Pulmonic stenosis, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy OMIM:613224
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Dysphagia, Hypertrophic cardiomyopathy ORPHA:368
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Cleft palate, Ventricular septal defect ORPHA:1770
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy OMIM:616896
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Hydrocephalus, Aortic root aneurysm, Patent foramen ovale, Mitral valve pr... OMIM:245600
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Splenomegaly, Recurrent upper resp... OMIM:253220
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Abnormal heart valve morphology, Congestive heart failure OMIM:309900
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Cleft palate, Impaired myocardial contractility, Cardiomegaly ORPHA:158687
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Cleft palate, Patent ductus arteriosus, Anteriorly placed anus, Abnormal cardiac ... OMIM:217980
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy OMIM:611719
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Lymphedema-Distichiasis Syndrome
Chylothorax, Cleft palate, Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus, Varicose ve... OMIM:153400
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Vascular tortuosity, Prominent superficial veins OMIM:612940
Meckel Syndrome, Type 1
Vascular dilatation, Accessory spleen, Polycystic kidney dysplasia, Anal atresia, Asplenia, Intes... OMIM:249000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Pericard... OMIM:235510
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Pericardial effusion, Ventriculomegaly, Dandy-Walker malformation OMIM:617822
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Cardiomyopathy, Renal cyst, Pericardial effusion, Pericarditis, Stroke... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 57
Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Hypertrophic cardiomyopathy OMIM:620167
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Cleft palate, Ventricular septal defect, Gastroesophageal reflux ORPHA:447980
Vici Syndrome
Atrial septal defect, Congestive heart failure, Recurrent respiratory infections, Cardiomyopathy,... OMIM:242840
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Splenomeg... OMIM:616084
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Recurrent respiratory infections, Dysplastic pulmonary valve, Ascending... OMIM:601808
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Cleft palate, Mitral regurgitation, Arrhythmia, Atrial septal defect, Ventr... ORPHA:254346
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, High palate, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aort... OMIM:121050
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, High palate OMIM:618798
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatomegaly, Cholestasis, Biliary cirrhosis, Patent ductus art... OMIM:620454
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Cleft palate, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular se... OMIM:600460
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Mitral valve prolapse, Patent ductus arteriosus OMIM:104350
Basel-Vanagaite-Smirin-Yosef Syndrome
Gastroesophageal reflux, High palate, Furrowed tongue, Pulmonary arterial hypertension, Cleft pal... OMIM:616449
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Aortic regurgitation, Coarctation of aorta, Atrial septal defect, Ventric... OMIM:614114
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Cleft palate, High palate, Patent ductus arteriosus ORPHA:52055
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Rectoperineal fistula, Coarctation of aorta, Tetralogy of Fallot, Ventricul... OMIM:618748
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Thrombocytosis, Aortic regurgitation, Cholestasis, Pulmonic st... OMIM:222470
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Retinal arterial tortuosity, Hydranencephaly, Hydrocephalus, Patent foramen ... OMIM:620371
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Mucopolysaccharidosis Type 1
Congestive heart failure, Abnormal aortic valve morphology, Hydrocephalus, Abnormal heart valve m... ORPHA:579
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, Recurrent lower respiratory tract infections, Noncompaction car... ORPHA:508542
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia, Atrial septal defect, Ventricul... OMIM:610733
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect, High palate OMIM:617452
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Combined Oxidative Phosphorylation Deficiency 59
Congestive heart failure, Cholelithiasis, Hypertrophic cardiomyopathy, Severely reduced left vent... OMIM:620646
Nephronophthisis 18
Hydrocephalus, Hypertension OMIM:615862
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Abnormal heart morphology, Encephalocele ORPHA:1865
Recombinant 8 Syndrome
Abnormality of the anus, Pulmonary artery stenosis, Cleft palate, Tetralogy of Fallot, Patent duc... ORPHA:96167
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cardiomyopathy, Hypotension, Arrhythmia, Ventricular tachycardia ORPHA:159
Mitochondrial Complex I Deficiency, Nuclear Type 29
Palpitations, Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Holoprosencephaly
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Abnormal aortic morphology, Holoprosence... ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Atrioventricular canal defect, Gastroesophageal reflux... ORPHA:453499
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Abnormal left ventricular function, Stroke, Pancreatic isl... ORPHA:892
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Increased CSF lactate, Abnormal mitochondrial shape, Patent foramen oval... ORPHA:17
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Aspiration pneumonia, Hepatosplenomegaly, Cherry red spot of the macula, Macroglo... ORPHA:79255
Zellweger Syndrome
Jaundice, Hepatomegaly, High palate, Pyloric stenosis, Ventricular septal defect, Multicystic kid... ORPHA:912
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Dysphagia, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:617061
Ververi-Brady Syndrome
Transposition of the great arteries, High palate OMIM:617982
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Recurrent upper respiratory tract infections ORPHA:3078
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Atrial septal defect, Patent ductus arteriosus OMIM:618162
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Dysphagia OMIM:618325
Desmosterolosis
Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return, Patent ductus arteriosus ORPHA:35107
Aicardi-Goutieres Syndrome 7
Hematemesis, Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, Pancytopenia, Va... OMIM:615846
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Bone marrow hypocellularity, Atrial septal defect, Ventricular septal defec... OMIM:609053
Mucopolysaccharidosis, Type Vi
Pulmonary insufficiency, Hepatomegaly, Sinus tachycardia, Cardiomyopathy, Pulmonary arterial hype... OMIM:253200
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Kury-Isidor Syndrome
Ventricular septal defect, High palate OMIM:619762
Desmosterolosis
Hydrocephalus, Ventriculomegaly, Total anomalous pulmonary venous return, Patent ductus arteriosus OMIM:602398
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Recurrent respiratory infections, Pulmonary arte... OMIM:616777
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Temple Syndrome
Hydrocephalus ORPHA:254516
Melas
Wolff-Parkinson-White syndrome, Anemia, Concentric hypertrophic cardiomyopathy, Intestinal pseudo... ORPHA:550
Kapur-Toriello Syndrome
Intestinal malrotation, Cleft palate, Patent ductus arteriosus, Atrial septal defect, Ventricular... OMIM:244300
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Vascular dilatation, Aortic aneurysm, Arterial dissection, Aortic disse... ORPHA:1900
Noonan Syndrome 3
Tricuspid valve prolapse, Juvenile myelomonocytic leukemia, Patent foramen ovale, High palate, Hy... OMIM:609942
Mucopolysaccharidosis Type 2, Severe Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:217085
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele OMIM:241800
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Bifid uvula, Hypertrophic cardiomyopathy OMIM:619121
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Periportal fibrosis, Patent foramen ovale, Ventricular septal defect, ... OMIM:269860
Alagille Syndrome
Hepatomegaly, Hypertension, Cholestasis, Telangiectasia of the skin, Reduced number of intrahepat... ORPHA:52
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Abnormal heart morphology OMIM:239300
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Codas Syndrome
Ventricular septal defect, Extrahepatic biliary duct atresia ORPHA:1458
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the liver, Hepatocellular carcinoma, Cardiomyopathy ORPHA:88618
Colonic Atresia
Abdominal situs inversus ORPHA:1198
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:46627
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Gastroesophageal reflux, Reduced left ... ORPHA:258
Trisomy 8P
Abnormal left ventricle morphology, Hydrocephalus, Dandy-Walker malformation, Dysplastic aortic v... ORPHA:264450
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:98853
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, High palate, Thrombocytopenia, Dysphagia, Dilated cardiomyopat... ORPHA:261250
Craniofacioskeletal Syndrome
Interrupted aortic arch, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:300712
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:217093
Martsolf Syndrome 1
Congestive heart failure, Cardiomyopathy, Cardiac arrest, High palate, Recurrent respiratory infe... OMIM:212720
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy ORPHA:496790
Proteus-Like Syndrome
Hydrocephalus, Venous insufficiency, Communicating hydrocephalus ORPHA:2969
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Heart murmur ORPHA:166035
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Retinal telangiectasia OMIM:620157
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Anem... ORPHA:324
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Polycystic kidney dysplasia, Cardiomyopathy, Arrhythmia, Hepatic calcification, Cys... ORPHA:157
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Pancytopenia, Aortic root aneurysm, Ventricular hypertrophy, High palate, Lymphopenia, Pu... OMIM:620654
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:619833
7Q11.23 Microduplication Syndrome
Aortic aneurysm, Hydrocephalus, Aortic valve stenosis, Patent ductus arteriosus, Ventriculomegaly... ORPHA:96121
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Hypertrophic cardiomyopathy OMIM:618835
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension, Patent ductus a... ORPHA:2519
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Pulmonary artery atresia, High palate, Patent ductus arteriosus, Ventricula... OMIM:620113
Opitz Gbbb Syndrome
Aortic root aneurysm, Ectopic anus, Patent foramen ovale, High palate, Anal atresia, Tracheoesoph... ORPHA:2745
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension,... ORPHA:580
Glycogen Storage Disease Due To Acid Maltase Deficiency
Dilatation of the cerebral artery, Hepatomegaly, Atelectasis, Left ventricular outflow tract obst... ORPHA:365
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, Bronchiectasis, ... OMIM:123700
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Cleft palate, Ventricular septal defect, Esophageal atresia OMIM:610536
Loeys-Dietz Syndrome 5
Cleft soft palate, Aortic root aneurysm, Patent foramen ovale, High palate, Eosinophilic infiltra... OMIM:615582
Meier-Gorlin Syndrome 7
Meconium peritonitis, Anal stenosis, Heart block, High palate, Anal atresia, Cleft palate, Duoden... OMIM:617063
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Patent foramen oval... ORPHA:209905
ERI1-related disease
High palate, Pulmonary arterial hypertension, Tricuspid regurgitation, Velopharyngeal insufficien... OMIM:608739
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Gastroesophageal reflux, Reflex asyst... ORPHA:79329
Renal Agenesis
Hypertension, Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Coccidioidomycosis
Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Increased CSF protein concentration, CSF... ORPHA:228123
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Cleft palate, High palate, Gastroesophageal reflux OMIM:617164
Peroxisome Biogenesis Disorder 5A (Zellweger)
Jaundice, Hepatomegaly, Aortic regurgitation, Intrahepatic biliary dysgenesis, Polycystic kidney ... OMIM:614866
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, High palate, Renal cyst, Patent ductus arteriosus OMIM:615398
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Pulmonic stenosis, Ventriculomegaly, Atrial septal defect OMIM:257300
Fanconi Anemia
Abnormal carotid artery morphology, Abnormal aortic valve morphology, Arteriovenous malformation,... ORPHA:84
Temple Syndrome
Hydrocephalus OMIM:616222
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Crouzon Syndrome
Hydrocephalus ORPHA:207
Apert Syndrome
Hydrocephalus, Overriding aorta, Ventriculomegaly, Ventricular septal defect OMIM:101200
Diamond-Blackfan Anemia 10
Anemia, Macrocytic anemia, Reticulocytopenia, Cleft palate, Steroid-responsive anemia, Patent duc... OMIM:613309
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... OMIM:609192
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Cleft palate, High palate OMIM:612530
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Aortic regurgitation, Recurrent respiratory infections, Aortic aneurysm, Tru... ORPHA:261330
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly, Hypertension ORPHA:2169
Mosaic Trisomy 1
Renal cortical cysts, Pulmonary artery atresia, Renal cyst, Coarctation of aorta, Cleft palate, P... ORPHA:1692
Cerebral Visual Impairment
Hydrocephalus, Ischemic stroke, Intracranial hemorrhage ORPHA:447788
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Atrial septal defect OMIM:207410
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Pancreatic fibrosis, Hepatic fibrosis, Tricuspid regurgitation, Inte... OMIM:263520
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, High palate OMIM:270450
H Syndrome
Abnormal cardiovascular system physiology, Azoospermia, Hydrocephalus, Facial telangiectasia, Var... ORPHA:168569
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618810
C Syndrome
Hepatomegaly, Renal cortical cysts, High palate, Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Koolen-De Vries Syndrome
Narrow palate, Aortic root aneurysm, High palate, Pyloric stenosis, Pulmonic stenosis, Cleft pala... OMIM:610443
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Dysphagia, Hypertrophic cardiomyopathy, Pancytopenia OMIM:607426
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Chronic pancreatitis, Cardiomyopathy, Splenomegaly, Hepatic steatosis OMIM:610717
Postinfectious Vasculitis
Gastrointestinal inflammation, Ischemic stroke, Vascular dilatation, Bacterial endocarditis, Hype... ORPHA:48435
Mucolipidosis Iii Alpha/Beta
Hepatomegaly, Cardiomyopathy, Aortic regurgitation, Severely reduced left ventricular ejection fr... OMIM:252600
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Cardiofaciocutaneous Syndrome
Hydrocephalus, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Pulmonic stenosis, A... ORPHA:1340
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Esophageal varix, Hypertrophic cardiomyopathy, Portal hypertension, Coppe... ORPHA:309854
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:98863
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Dilatation of the ventricular cavity ORPHA:363623
Marshall-Smith Syndrome
Hydrocephalus, Hypertension, Dysplastic aortic valve, Pulmonary arterial hypertension, Premature ... OMIM:602535
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Cardiomyopathy, Abnormal granulocyte morphology, Micronodular cirrhosis, Hepatic st... ORPHA:98907
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy OMIM:614462
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Stroke, Pulmonary arterial hypertension, Abnormal heart morphology, Dilated cardio... ORPHA:79282
Alg9-Cdg
Abnormal lung lobation, Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Abnormal lef... ORPHA:79328
Noonan Syndrome 14
High, narrow palate, Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral... OMIM:619745
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Mitral valve prolapse, Aortic aneurysm OMIM:182212
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Hepatomegaly, Intrahepatic biliary dysgenesis, High palate, Ventricular sept... OMIM:214100
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Submucous cleft hard palate, Ventricular septal defect, Unilateral cl... OMIM:619103
Bohring-Opitz Syndrome
Narrow palate, Hyperechogenic pancreas, Gastroesophageal reflux, Bilateral cleft palate, Unilater... OMIM:605039
Adams-Oliver Syndrome 1
Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary artery stenosis, Aort... OMIM:100300
Hypocalcemic Vitamin D-Dependent Rickets
Hepatomegaly, Cardiomyopathy, Leukocytosis, Splenomegaly, Hypochromic anemia ORPHA:289157
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Gastroesophageal reflux, Pulmonary artery stenosis, Atrial sept... OMIM:300998
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly, Syncope, Raynaud phenomenon OMIM:616260
Autoimmune Polyendocrine Syndrome, Type Ii
Steatorrhea, Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic ... OMIM:269200
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Azoospermia, Hydrocephalus, Bacterial endocarditis, Spontaneous, recu... ORPHA:2072
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular se... OMIM:154400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Ventricular septal defect, Pancreatic fibrosis OMIM:615503
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Pulmonary artery atresia, Tricuspid regurgitation, Cleft palate, Patent duc... OMIM:616894
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Cholelithiasis, Atrophic gastritis, Asplenia OMIM:240300
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Hydrocephalus, Tricuspid regurgitation, Patent ductus arteriosus, Ventr... ORPHA:261337
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Thrombocytopenia, High palate, Dysphagia ORPHA:572798
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect ORPHA:217346
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect, High palate OMIM:309520
3Q29 Microduplication Syndrome
Ventricular septal defect, Ectopic anus, Cleft palate, High palate ORPHA:251038
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Aortic root aneurysm, Ascending tubular aorta aneurysm, Stroke, Mitral valve prola... ORPHA:536467
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D... OMIM:300952
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Filippi Syndrome
Ventricular septal defect ORPHA:3255
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Atrioventricular canal defect, Spina bifida occulta, Hypoplastic aor... ORPHA:508488
Fanconi Anemia, Complementation Group N
Aplastic anemia, Acute myeloid leukemia, Anal atresia, Atrial septal defect, Ventricular septal d... OMIM:610832
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Occipital meningocele, Ventriculomegaly, Atrial septal defect OMIM:616546
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, High, narrow palate, Cholelithiasis, Furrowed tongue, Pulmonary arterial hy... ORPHA:464738
Tetrasomy 5P
Hydrocephalus, Congestive heart failure, Pulmonary arterial hypertension, Heart murmur ORPHA:3309
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Abnormal heart valve morphology, Myelomeningocele, Abnormal cardiac... ORPHA:90652
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Oligozoo... ORPHA:85450
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Duodenal atresia, Ventricular septal defect, Gastrointestinal dysmotility OMIM:617798
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hydranencephaly OMIM:225790
Orofaciodigital Syndrome I
Vascular dilatation, Hydrocephalus, Hypertension, Myelomeningocele, Abnormal heart morphology OMIM:311200
Koolen-De Vries Syndrome Due To A Point Mutation
Aortic aneurysm, Hydrocephalus, Intraventricular hemorrhage, Cardiomyopathy, Spina bifida, Pulmon... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Aortic aneurysm, Hydrocephalus, Intraventricular hemorrhage, Cardiomyopathy, Spina bifida, Pulmon... ORPHA:363958
Diamond-Blackfan Anemia
Normochromic anemia, Macrocytic dyserythropoietic anemia, Abnormal heart morphology, Leukopenia, ... ORPHA:124
Cardiofaciocutaneous Syndrome 1
Pulmonic stenosis, Atrial septal defect, Hydrocephalus, Hypertrophic cardiomyopathy OMIM:115150
Friedreich Ataxia
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Bresek Syndrome
Hydrocephalus ORPHA:85284
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Gastroesophageal reflux, Duodenal atresia, Telangiectas... ORPHA:2092
Brachytelephalangic Chondrodysplasia Punctata
Gastroesophageal reflux, Recurrent respiratory infections, Pulmonary artery stenosis, Patent duct... ORPHA:79345
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Ventricular ... OMIM:300373
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Oral-pharyngeal dysphagia, Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, V... OMIM:616878
Jacobsen Syndrome
Hydrocephalus, Atrial septal defect, Ventricular septal defect, Holoprosencephaly OMIM:147791
Friedreich Ataxia
Cardiomyopathy, Dysphagia ORPHA:95
Fryns Syndrome
Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Chylothorax, Anal atresia, Renal ... OMIM:229850
Noonan Syndrome
Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality of the lymphatic system, High palate,... ORPHA:648
Doors Syndrome
Narrow palate, Gastroesophageal reflux, High palate, Aspiration pneumonia, Cleft palate, Double o... ORPHA:79500
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Abnormal lung lobation, High, narrow palate, Gastroesophageal reflux, Abnormal gastrointestinal t... ORPHA:369837
Jacobsen Syndrome
Annular pancreas, Ectopic anus, Intestinal malrotation, Pyloric stenosis, Aortic valve stenosis, ... ORPHA:2308
Sturge-Weber Syndrome
Hydrocephalus, Stroke, Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmon... ORPHA:3205
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1517
Opitz Gbbb Syndrome
Rectourethral fistula, Gastroesophageal reflux, High palate, Anal atresia, Cleft palate, Dysphagi... OMIM:300000
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Dysphagia, Arrhythmia, Neutropenia OMIM:615471
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Hepatic necrosis, Dilated cardiomyopathy, Hep... ORPHA:71212
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Reduced left ventricular ejection fraction, Hydrocephalus, Abno... ORPHA:581
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Wolfram Syndrome
Gastrointestinal hemorrhage, Anemia, Cardiomyopathy, Abnormal mesentery morphology, Gastric ulcer ORPHA:3463
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Anemia, High palate, Hypertrophic cardiomyopathy, Increased hepatocellular lipid dr... OMIM:220110
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis, Pulmonary fibrosis, Neutropenia ORPHA:79430
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Cardiomyopathy ORPHA:206549
Aymé-Gripp Syndrome
Hydrocephalus, Pericardial effusion, Pericarditis, Patent ductus arteriosus, Ventriculomegaly ORPHA:1272
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Cleft palate, Ventricular septal defect ORPHA:96129
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Hepatomegaly, Prolonged QT interval, Cardiomyopathy, Ventricular septal defe... ORPHA:373
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly, Coarctation of aorta, Abnormal cardiac septum morphology ORPHA:2322
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Atrial septal defect, Abdominal situs inversus, Abnormal cardiac... ORPHA:280
Hemangioblastoma
Hydrocephalus ORPHA:252054
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Gastroesophageal reflux, High palate, Pulmonic stenosis, Cleft palate, Patent ductus arteriosus, ... OMIM:610759
Zimmermann-Laband Syndrome 1
Hepatomegaly, Gastroesophageal reflux, Aortic root aneurysm, Cardiomyopathy, High palate, Aortic ... OMIM:135500
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Gastroesophageal reflux, Bradycardia, Hypertension, High palate, Retinal hemorrhage, Tachycardia,... OMIM:614653
Costello Syndrome
Lymphangiectasis, Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve pro... OMIM:218040
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele, Abnormal cardiac septum morphology ORPHA:2166
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Aqueductal stenosis, Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619512
Ulnar-Mammary Syndrome
Ectopic anus, Anal atresia, Pyloric stenosis, Arrhythmia, Ventricular septal defect ORPHA:3138
Trichothiodystrophy
High, narrow palate, Anemia, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy,... ORPHA:33364
Rabson-Mendenhall Syndrome
Cardiomyopathy, High palate, Furrowed tongue, Atrial septal defect, Ventricular septal defect, Ma... ORPHA:769
Donnai-Barrow Syndrome
Intestinal malrotation, Ventricular septal defect OMIM:222448
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Diffuse hepatic steatosis ORPHA:436271
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Trichohepatoneurodevelopmental Syndrome
Steatorrhea, Hepatomegaly, Gastroesophageal reflux, Cholelithiasis, High palate, Ventricular sept... OMIM:618268
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy OMIM:201470
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Oral-pharyngeal dysphagia, Cardiomyopathy, Cardiac con... ORPHA:2131
Familial Visceral Myopathy
Abdominal situs inversus ORPHA:2604
Hajdu-Cheney Syndrome
Hydrocephalus, Aortic valve stenosis, Mitral stenosis, Patent ductus arteriosus, Ventricular sept... ORPHA:955
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Hepatomegaly, Anemia, Heart block, Abnormal cardiac septum morphology, Car... ORPHA:175
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Ventricular septal defect, Holoprosencephaly, Patent ductus a... OMIM:146510
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Subarachnoid h... ORPHA:2356
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Weill-Marchesani Syndrome 1
Narrow palate, Aortic valve stenosis, Pulmonic stenosis, Patent ductus arteriosus, Ventricular se... OMIM:277600
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation OMIM:607361
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Aortic root aneurysm, Aortopulmonary window, Pulmonary arterial hypertension, Pulmo... OMIM:620025
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Retinal hemorrhage, Communicating hydrocephalus, Ventriculomegaly, Subdural... ORPHA:25
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Atrial septal defect, Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Pulmonary art... ORPHA:96334
Coffin-Siris Syndrome
Aspiration pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, H... ORPHA:1465
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Anemia, Meckel diverticulum, Leukocytosis, Coarctation of aorta, C... OMIM:274000
Cockayne Syndrome Type 3
Hepatomegaly, Increased blood pressure, Premature coronary artery atherosclerosis, Gastroesophage... ORPHA:90324
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
High palate, Pulmonary arterial hypertension, Tricuspid regurgitation, Velopharyngeal insufficien... OMIM:620663
16P13.11 Microdeletion Syndrome
Atrial septal defect, Cleft palate, Ventricular septal defect, Gastroesophageal reflux ORPHA:261236
Degcags Syndrome
Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenital hypoplastic an... OMIM:619488
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomega... OMIM:619991
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hypertension, Intestinal malrotation, Bifid uvula, Splenomegaly, Hepat... OMIM:270400
Congenital Syphilis
Myocarditis, CSF pleocytosis, Hydrocephalus ORPHA:499009
Hajdu-Cheney Syndrome
Hydrocephalus, Ventricular septal defect, Patent ductus arteriosus OMIM:102500
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Cleft palate, Patent ductus arterios... OMIM:614609
Shprintzen-Goldberg Syndrome
Abnormal aortic valve morphology, Communicating hydrocephalus, Mitral valve prolapse, Ventriculom... ORPHA:2462
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Esophageal atresia, Tracheoesophageal fistula, Pulmonary artery stenosis... OMIM:301030
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Cirrhosis, Hepatomegaly, Melena, Anemia, Hepatocellular carcinoma, H... OMIM:276700
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Aqueductal stenosis OMIM:304340
Alagille Syndrome 1
Cirrhosis, Stroke, Hepatocellular carcinoma, Renal artery stenosis, Cholestasis, Prolonged neonat... OMIM:118450
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Abnormal heart morphology, Patent ductus arteriosus OMIM:227646
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Hypoplastic aortic arch ORPHA:457284
Simpson-Golabi-Behmel Syndrome, Type 1
Meckel diverticulum, Cardiomyopathy, Intestinal malrotation, Pulmonic stenosis, Splenomegaly, Nar... OMIM:312870
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Tricuspid regurgitation, Bradycardia OMIM:620351
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Recurrent respiratory infections, Ectopic anus, Abnormal aor... ORPHA:1507
Hydrolethalus
Hydrocephalus, Anencephaly ORPHA:2189
Mend Syndrome
Aortic valve stenosis, Dandy-Walker malformation, Abnormal heart morphology, Hydrocephalus ORPHA:401973
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Le... OMIM:300967
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Aqueductal stenosis, Cleft anterior mitral valve leaflet, Pulmonary ar... OMIM:616462
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ... OMIM:614947
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Stroke ORPHA:395
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Congestive heart failure, Pulmonary arterial hypertension OMIM:616482
Muenke Syndrome
Hydrocephalus ORPHA:53271
Cornelia De Lange Syndrome 1
High, narrow palate, Gastroesophageal reflux, High palate, Renal cyst, Pyloric stenosis, Cleft pa... OMIM:122470
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration OMIM:272200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly, Intraventricular hemorrhage OMIM:613603
Lateral Meningocele Syndrome
High, narrow palate, Ventricular septal defect, High palate ORPHA:2789
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Thrombocytosis, Macrocy... OMIM:105650
Codas Syndrome
Atrioventricular canal defect, Gastroesophageal reflux, Rectovaginal fistula, Anal atresia, Atria... OMIM:600373
47,Xyy Syndrome
Hydrocephalus, Oligozoospermia, Azoospermia ORPHA:8
Charge Syndrome
Aqueductal stenosis, Abnormal aortic valve morphology, Interrupted aortic arch, Dandy-Walker malf... ORPHA:138
Yunis-Varon Syndrome
Hydrocephalus, Hypertension, Cardiomyopathy, Renal artery stenosis, Pulmonary arterial hypertensi... ORPHA:3472
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Aortic aneurysm, Hydrocephalus, Aortic roo... ORPHA:666
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect, Accessory spleen OMIM:619306
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:899
Chromosome 14Q11-Q22 Deletion Syndrome
Gastroesophageal reflux, Patent foramen ovale, High palate, Ventricular septal defect, Patent duc... OMIM:613457
Duane-Radial Ray Syndrome
Aganglionic megacolon, Vascular dilatation, Anal stenosis, Anal atresia, Atrial septal defect, Ve... OMIM:607323
Fontaine Progeroid Syndrome
Patent ductus arteriosus, Aortic aneurysm, Hydrocephalus, Pulmonary arterial hypertension, Tricus... OMIM:612289
Mucolipidosis Ii Alpha/Beta
Congestive heart failure, Hepatomegaly, Aortic regurgitation, Recurrent bronchitis, Hypertrophic ... OMIM:252500
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Gastroesophageal reflux, Short hard palate, High palate, Glosso... OMIM:117650
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele OMIM:614195
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Cardiomyopathy, Acute pancreatitis, Splenomegaly, Polycystic ovaries, He... OMIM:608594
Opitz-Kaveggia Syndrome
Hydrocephalus, Abnormal heart morphology OMIM:305450
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent foramen ovale, Renal cyst, Pulmonary arterial hypertension, Coarctation of aorta, Cleft pa... OMIM:618454
Cutis Laxa, Autosomal Recessive, Type Iid
Pneumothorax, Congestive heart failure, Ascending tubular aorta aneurysm, Right bundle branch blo... OMIM:617403
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Ventricular septal hypertrophy, Hepatomegaly, Acute pancreatitis, Hypertrophic cardiom... OMIM:269700
Lymphangioleiomyomatosis
Hydrocephalus, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Chylopericardium ORPHA:538
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Arteriosclerosis ORPHA:220295
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Pulmonary artery stenosis, Pulmonary arterial hypertension, Abnormal pulmonary val... ORPHA:667
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Renal cyst OMIM:250410
Arachnoiditis
Hydrocephalus ORPHA:137817
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Hydrocephalus, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mi... ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Congestive heart failure, Aortic regurgitation, Aortic aneurysm, Hydrocephalus, Heart murmur, Dil... OMIM:619475
Combined Oxidative Phosphorylation Deficiency 37
Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Bile duct proliferation OMIM:618329
Kaufman Oculocerebrofacial Syndrome
High palate, Intestinal malrotation, Coarctation of aorta, Atrial septal defect, Ventricular sept... OMIM:244450
Gaucher Disease
Hydrocephalus, Abnormal heart valve morphology, Mitral valve calcification, Pulmonary arterial hy... ORPHA:355
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Gastroesophageal reflux, Renal cyst, Pyloric stenosis, Aortic valve stenosi... ORPHA:464306
Chime Syndrome
Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Cleft palate, Tetra... ORPHA:3474
Penile Agenesis
Rectal fistula, Bilateral lung agenesis, Anorectal anomaly, Anal atresia, Tracheoesophageal fistu... ORPHA:49
Rabin-Pappas Syndrome
Hydrocephalus, Retinal telangiectasia OMIM:620155
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Ventriculomegaly, Dilated third ventricle ORPHA:500055
X Small Rings
Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm, Mitral stenosis ORPHA:96201
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Cardiac rhabdomyoma, Hydrocephalus, Spina bifida OMIM:109400
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Ventricul... OMIM:227645
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Hydrocephalus, Noncompaction cardiomyopathy, Patent foramen ovale, Aortic r... OMIM:607872
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Intestinal malrotation, Volvulus, Cerebral hemorrhage, Patent ductus art... OMIM:616682
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal hea... ORPHA:363700
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Hallermann-Streiff Syndrome
Congestive heart failure, Abdominal situs inversus ORPHA:2108
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Weill-Marchesani Syndrome 2
Narrow palate, Congestive heart failure, High palate, Aortic valve stenosis, Pulmonic stenosis, A... OMIM:608328
Monosomy 9Q22.3
Cardiac fibroma, Ventriculomegaly, Hydrocephalus ORPHA:77301
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Right bundle branch block OMIM:618590
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Neutral Lipid Storage Myopathy
Congestive heart failure, Hepatomegaly, Chronic pancreatitis, Cardiomyopathy, Hepatic steatosis, ... ORPHA:98908
Cerebrocostomandibular Syndrome
Short hard palate, Glossoptosis, Cleft palate, Ventricular septal defect, Multicystic kidney dysp... ORPHA:1393
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Gastroesophageal reflux, Renal cyst, Aortic valve stenosis, Patent ductus a... ORPHA:464311
Okamoto Syndrome
Anal stenosis, Abnormal left ventricle morphology, Gastroesophageal reflux, Primum atrial septal ... ORPHA:2729
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Hypertension ORPHA:1555
Medulloblastoma
Hydrocephalus, Cerebellar hemorrhage ORPHA:616
Williams Syndrome
Abnormal carotid artery morphology, Hypertension, Cerebral ischemia, Tracheoesophageal fistula, P... ORPHA:904
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Gastroesophageal reflux, Patent foramen ovale, High palate, Furrowed tongue, Re... OMIM:616975
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Renal cortical cysts, Cardiomyopathy, Pancreatic hyperplasia, Hepatob... OMIM:130650
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Renal cyst, Transient neutropenia, Mitral valve prolapse, Varicose vei... OMIM:617107
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Pseudoaminopterin Syndrome
Patent foramen ovale, High palate, Asplenia ORPHA:221120
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, High palate, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal ... OMIM:607721
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, High palate, Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect, Mac... ORPHA:96191
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:620024
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele ORPHA:220497
Usher Syndrome
Abnormal cardiovascular system physiology, Hypertrophic cardiomyopathy ORPHA:886
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Aganglionic megacolon, Atrioventricular canal defect, Patent ductus arter... ORPHA:818
Fanconi Anemia, Complementation Group A
Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thromb... OMIM:227650
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Hypertension ORPHA:87
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Pulmonary arterial hypertension, Tricuspid regurgitatio... ORPHA:314585
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Hypertension, Hypotension, Sudden cardiac death ORPHA:58
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:1812
Functioning Gonadotropic Adenoma
Hydrocephalus, Oligozoospermia ORPHA:91348
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Atrioventricular canal defect, Recurrent respiratory infections, Neoplasm o... ORPHA:3047
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Anemia, Gastroesophageal reflux, Ankyloglossia, Bile duct proliferation, Prolonged ... OMIM:619525
Achondroplasia
Hydrocephalus ORPHA:15
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Stroke, Patent ductus arteriosus, Communicating hydrocephalus OMIM:618188
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cleft palate, Ventricular septal defect OMIM:178110
Peters Plus Syndrome
Spina bifida occulta, Abnormal cardiac septum morphology, Hydrocephalus, Abnormal pulmonary vein ... ORPHA:709
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Intestinal pseudo-obstruction, Aortic aneurysm, Exaggerated median tongue fu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Intestinal pseudo-obstruction, Aortic aneurysm, Exaggerated median tongue fu... ORPHA:352665
Primary Hyperoxaluria
Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Arterial occlusion ORPHA:416
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal defect, Transient ne... ORPHA:500095
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Aortic aneurysm, Subependymal nodules, Hypertension, Internal hemorrhage, No... ORPHA:805
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Telangiectasia of the skin OMIM:616007
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614052
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Pulmonic stenosis, Cleft palate, Mitral valve prolapse, Bundle branc... OMIM:151100
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect, Aortic regurgitation OMIM:609460
Robinow Syndrome
Pulmonary valve atresia, Tricuspid atresia, Ankyloglossia, Pulmonic stenosis, Coarctation of aort... ORPHA:97360
Trisomy 18
Narrow palate, Esophageal atresia, Anal atresia, Cleft palate, Atrial septal defect, Ventricular ... ORPHA:3380
Kabuki Syndrome 1
Hydrocephalus, Coarctation of aorta, Lateral ventricle dilatation, Atrial septal defect, Ventricu... OMIM:147920
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Hydrocephalus, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachyca... OMIM:277400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Gastroesophageal reflux, Aortic root aneurysm, Patent foramen ovale, Hi... ORPHA:444077
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly, Hypertension OMIM:123790
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Cirrhosis, Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Hypertrophic cardiomyopathy OMIM:616539
Mend Syndrome
Aortic valve stenosis, Dandy-Walker malformation, Hydrocephalus OMIM:300960
Oculoectodermal Syndrome
Transient ischemic attack, Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ductus arter... OMIM:600268
Gorlin Syndrome
Cardiac fibroma, Hydrocephalus ORPHA:377
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Teebi-Shaltout Syndrome
Aortic valve stenosis, High, narrow palate, Cleft palate, Ventricular septal defect OMIM:272950
Noonan Syndrome 1
High, narrow palate, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Chylotho... OMIM:163950
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, High palate, Hypertrophic cardiomyopathy, Dysphagia, Dilated card... OMIM:164310
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Dysphagia, Dilated car... ORPHA:255210
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele, Portal hypertension ORPHA:1454
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida OMIM:613776
Familial Glucocorticoid Deficiency
Hypotension, Hypertrophic cardiomyopathy ORPHA:361
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Zttk Syndrome
Atrial septal defect, Intestinal atresia, Aortic regurgitation, High palate, Bifid uvula, Unilate... OMIM:617140
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft palate, Ventricular septal defect, Patent ductus arteriosus OMIM:106260
Cystic Fibrosis
Male infertility, Cirrhosis, Pancreatitis, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, E... OMIM:219700
Cornelia De Lange Syndrome 6
Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery atresia, Gastroesophag... OMIM:620568
Crouzon Syndrome
Hydrocephalus OMIM:123500
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave ORPHA:444072
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Pulmonary edema, Aortic valve atresia, Microvesicular hepatic steatosis, Hypertension, Hypertroph... OMIM:220111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
3Mc Syndrome 1
Conjunctival telangiectasia, Cleft palate, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:257920
Vater/Vacterl Association
Transposition of the great arteries, Esophageal atresia, Anal atresia, Tracheoesophageal fistula,... OMIM:192350
Aicardi-Goutières Syndrome
Calcification of the aorta, Moyamoya phenomenon, Aortic aneurysm, Chronic lymphatic leukemia, Neo... ORPHA:51
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
High, narrow palate, Patent ductus arteriosus, Gastroesophageal reflux, Abnormal left ventricle m... ORPHA:466791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:614643
Isolated Complex I Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:2609
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Lateral ventricle dilatation ORPHA:300570
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis, Spina bifida OMIM:162200
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Keutel Syndrome
Emphysema, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Ve... OMIM:245150
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ventriculomegaly, Holoprosencephaly OMIM:612651
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava, Atrial sept... OMIM:619268
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Tetraamelia Syndrome 1
Anal atresia, Asplenia, Cleft palate, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia OMIM:273395
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Concentric hypertrophic cardiomyopathy OMIM:252010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Aromatase Deficiency
Male infertility, Hypergonadotropic hypogonadism, Female infertility, Primary amenorrhea, Hepatic... ORPHA:91
Bardet-Biedl Syndrome
Aganglionic megacolon, Abnormality of the gastrointestinal tract, Hypertension, High palate, Card... ORPHA:110
Semilobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Abnormal heart rate variability ORPHA:220386
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Alobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Abnormal heart rate variability ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Abnormal heart rate variability ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Abnormal heart rate variability ORPHA:93924
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hyphema, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Abnormal heart morphology, Dyspha... ORPHA:261552
Arboleda-Tham Syndrome
Gastroesophageal reflux, Recurrent respiratory infections, Intestinal malrotation, Pulmonic steno... OMIM:616268
Mosaic Trisomy 20
Abnormal mitral valve morphology, Cleft palate, Ventricular septal defect, Dysplastic tricuspid v... ORPHA:1724
Mowat-Wilson Syndrome
Aortic valve stenosis, Aganglionic megacolon, Cleft hard palate, Patent ductus arteriosus, Asplen... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Aganglionic megacolon, Cleft hard palate, Abnormality of the pulmonary art... ORPHA:261537
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal hypertrophy, Exaggerated median tongue furrow, High palate, Cleft palate, Subm... OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Ventricu... OMIM:236670
Microphthalmia, Syndromic 3
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus OMIM:206900
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Townes-Brocks Syndrome 1
Hydrocephalus, Tetralogy of Fallot, Holoprosencephaly, Atrial septal defect, Ventricular septal d... OMIM:107480
Myhre Syndrome
Hypertension, Aortic valve stenosis, Pericardial effusion, Coarctation of aorta, Cleft palate, Pa... OMIM:139210
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly OMIM:259720
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Intracranial hemorrhage ORPHA:91350
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Anencephaly OMIM:612284
Specc1L-Related Hypertelorism Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Arrhythmia, Atrial septal defect, Ventricular sept... ORPHA:1519
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Gastroesophageal reflux, Patent foramen ovale, Anomalous origin of left subclavian artery... ORPHA:438213
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Gastroesophageal reflux, Cleft soft palate, Pyloric stenosis, Aortic valve ... ORPHA:268261
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Abnormal heart morphology, Spina bifida OMIM:114290
17Q11 Microdeletion Syndrome
Stroke, Hypertension, Renal artery stenosis, Hypertrophic cardiomyopathy, Gastrointestinal stroma... ORPHA:97685
Larsen Syndrome
Atrial septal defect, Cleft palate, Ventricular septal defect, Aortic aneurysm OMIM:150250
Cockayne Syndrome A
Normal pressure hydrocephalus, Hypertension, Arrhythmia, Persistent left superior vena cava, Vent... OMIM:216400
Mowat-Wilson Syndrome
Atrial septal defect, Aganglionic megacolon, Pyloric stenosis, Pulmonic stenosis, Pulmonary arter... OMIM:235730
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect, Submucous cleft hard palate, Cleft palate, Submucous cleft soft palate ORPHA:1071
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, High palate, Tricuspid stenosis, Pulmonary arteria... OMIM:143095
Achondroplasia
Hydrocephalus OMIM:100800
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormal venous morphology, Abnormal cerebral vascular morphology ORPHA:276280
Craniopharyngioma
Hydrocephalus, Cerebral ischemia, Myocardial infarction ORPHA:54595
Femoral-Facial Syndrome
Gastroesophageal reflux, Polycystic kidney dysplasia, Truncus arteriosus, Pulmonic stenosis, Coar... OMIM:134780
Cerebrooculonasal Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele OMIM:605627
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Spina bifida ORPHA:3412
Cousin Syndrome
Hydrocephalus, Hydranencephaly OMIM:260660
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:620558
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Microphthalmia With Limb Anomalies
Hydrocephalus, Venous insufficiency ORPHA:1106
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Hypertension, Oligozoospermia ORPHA:95699
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Large inte... ORPHA:116
Fraser Syndrome 1
Hydrocephalus, Abnormal heart morphology, Encephalocele, Myelomeningocele OMIM:219000
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Bifid uvula, Ventricular septal defect, Tetralogy of Fallot OMIM:613458
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Coffin-Siris Syndrome 12
Patent foramen ovale, Tetralogy of Fallot, Noncommunicating hydrocephalus, Heart murmur OMIM:619325
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Gastroesophageal reflux, Cleft palate, Partial anomalous pulmonary venous return, Atrial septal d... OMIM:301044
Coffin-Siris Syndrome 1
Duodenal ulcer, Recurrent respiratory infections, High palate, Intestinal malrotation, Cleft pala... OMIM:135900
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly, Atrial septal defect, Ventricular septal defect OMIM:194190
Hydrolethalus Syndrome 1
Abnormal lung lobation, Accessory spleen, Cleft palate, Ventricular septal defect, Complete atrio... OMIM:236680
Raine Syndrome
Hydrocephalus OMIM:259775
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Meningioma
Hydrocephalus, Syncope, Cerebral hemorrhage ORPHA:2495
Peters-Plus Syndrome
Hydrocephalus, Pulmonic stenosis, Patent ductus arteriosus, Ventriculomegaly, Atrial septal defec... OMIM:261540
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Chilton-Okur-Chung Neurodevelopmental Syndrome
Patent foramen ovale, Communicating hydrocephalus, Epistaxis, Mild fetal ventriculomegaly, Patent... OMIM:619841
Neu-Laxova Syndrome 1
Transposition of the great arteries, Patent foramen ovale, Cleft palate, Pulmonary hypoplasia, Pa... OMIM:256520
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Rectal prolapse, Retinal arteriolar ... OMIM:194050
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Gastroesophageal reflux, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Atrial ... ORPHA:459070
Genitopatellar Syndrome
Anal stenosis, Multicystic kidney dysplasia, Anal atresia, Pulmonary hypoplasia, Dysphagia, Malro... OMIM:606170
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Cardiomyopathy, High palate, Anal atresia, Cleft palate, Recurren... ORPHA:480880
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dandy-Walker malformation, Secundum atrial septal defect, Prominent scalp veins OMIM:264090
Orofaciodigital Syndrome Xiv
Aplasia of the epiglottis, Ventricular septal defect, Cleft palate, Lobulated tongue, Patent duct... OMIM:615948
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Camurati-Engelmann Disease
Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly ORPHA:1328
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Stromme Syndrome
Hydrocephalus OMIM:243605
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Dilation of Virchow-Robin spaces, Hydrocephalus, Ret... OMIM:175780
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Atrial septal defect, Dilatation of the sinus of Valsalva, Spina bifida OMIM:304120
Omodysplasia 1
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:258315
Orofaciodigital Syndrome Type 14
Aplasia of the epiglottis, Ventricular septal defect, Cleft palate, Lobulated tongue, Patent duct... ORPHA:434179
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Dysplastic pulmonary valve, Prominent scalp veins, Pulmonic stenosis, Congenital m... ORPHA:3455
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, High palate OMIM:613884
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Hypertrophic car... OMIM:124000
Alpha-Mannosidosis, Infantile Form
Mitral regurgitation, Aortic regurgitation, Communicating hydrocephalus ORPHA:309282
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Cornelia De Lange Syndrome
Gastroesophageal reflux, High palate, Intestinal malrotation, Pyloric stenosis, Volvulus, Cleft p... ORPHA:199
Neurofibromatosis Type 1
Hydrocephalus, Hypertension, Arterial stenosis ORPHA:636
Baller-Gerold Syndrome
Hydrocephalus, Abnormal heart morphology, Spina bifida occulta OMIM:218600
Leprechaunism
Megarectum, Hepatomegaly, Hypertrophic cardiomyopathy, Rectal prolapse ORPHA:508
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Ulnar-Mammary Syndrome
Anal stenosis, Anal atresia, Pyloric stenosis, Arrhythmia, Ventricular septal defect OMIM:181450
Exstrophy-Epispadias Complex
Hydrocephalus, Abnormal heart morphology, Spina bifida ORPHA:322
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Atrial septal defect, Ventricular... OMIM:268300
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Communicating hydrocephalus ORPHA:168577
Pallister-Hall Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Anal atresia, Coarctation of aorta, Bifid ... ORPHA:672
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Occipital meningocele, Ho... OMIM:610829
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Cockayne Syndrome B
Normal pressure hydrocephalus, Hypertension, Arrhythmia OMIM:133540
Cryptococcosis
Hydrocephalus ORPHA:1546
Yunis-Varon Syndrome
Patent foramen ovale, Cardiomyopathy, High palate, Aspiration pneumonia, Pulmonary arterial hyper... OMIM:216340
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Full Nf2-Related Schwannomatosis
Hydrocephalus, Myelopathy ORPHA:637
Proboscis Lateralis
Ventricular septal defect, High palate, Patent ductus arteriosus ORPHA:141099
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Sotos Syndrome
Aganglionic megacolon, Small cell lung carcinoma, Gastroesophageal reflux, Aortic aneurysm, Prolo... ORPHA:821
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Focal Dermal Hypoplasia
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Telangiectasia OMIM:305600
Pallister-Killian Syndrome
Anal stenosis, Ventricular septal defect, Anal atresia, Hypertrophic cardiomyopathy, Intestinal m... OMIM:601803
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Communicating hydrocephalus ORPHA:457359
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Fetal Akinesia Deformation Sequence 1
Hydrocephalus OMIM:208150
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus OMIM:619321
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Pmm2-Cdg
Abnormal liver parenchyma morphology, Angina pectoris, High palate, Hypertrophic cardiomyopathy, ... ORPHA:79318

Histopathology

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

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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