Gene Summary

Name:
cilia and flagella associated protein 45
Synonyms:
Ccdc19,  Nesg1,  1700028D05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cfap45 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 Cfap45 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608

The table below shows human diseases predicted to be associated to Cfap45 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Reduced respiratory ciliary beating frequency, Atrioven... OMIM:618300
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Situs inversus totalis, Recurrent sinusitis, Reduced progressive s... OMIM:620438
Ciliary Dyskinesia, Primary, 18
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis, Recurrent s... OMIM:614874
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Heterotaxy, Chronic bronchitis, Immotil... OMIM:613807
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Infertility, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Red... OMIM:615500
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Pulmonary situs ambiguus, Male infertility, Abnormal sperm motility, Abno... ORPHA:244
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Immotile cilia, Situs inversus totalis... OMIM:615482
Ciliary Dyskinesia, Primary, 29
Atelectasis, Situs inversus totalis, Infertility, Recurrent respiratory infections, Bronchiectasi... OMIM:615872
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Infertility, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dex... OMIM:615444
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ma... OMIM:300991
Ciliary Dyskinesia, Primary, 24
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Infertility, Bronchiectasis, Ciliary... OMIM:615481
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis, Infertility, B... OMIM:613193
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Ciliary Dyskinesia, Primary, 37
Female infertility, Right aortic arch, Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:617577
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia, Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Immotile sperm, Reduced sperm motility, Recurrent respiratory infections,... OMIM:612650
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia, Short sperm flagella, Recurrent ... OMIM:620197
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Respiratory insu... OMIM:614935
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Male infertility, Ciliary... OMIM:612444
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Immotile sperm, Infertility, Rec... OMIM:613808
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Reduced spe... OMIM:608647
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Respiratory... OMIM:615451
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Situs inversus totalis, Infertility, Recurrent respiratory infections, Bronchiect... OMIM:616481
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Ciliary Dyskinesia, Primary, 38
Immotile cilia, Situs inversus totalis, Dextrocardia, Infertility, Bronchiectasis OMIM:618063
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobatio... ORPHA:1666
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci... OMIM:608644
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Situs inversus totalis, Dextrocardia, Infertility, Recurrent respiratory infectio... OMIM:606763
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Abnormal ciliary motility, Dextrocardia, Bronchiecta... OMIM:611884
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver... OMIM:615382
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Dilated fourth ventricle, Situs inver... OMIM:620642
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to... OMIM:615504
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to... OMIM:615505
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Decreased fertil... OMIM:615067
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis, Ciliary d... OMIM:614679
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Respiratory ... OMIM:616037
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Recurrent pneumonia, Microcephalic sperm head, Recurre... OMIM:301101
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota... OMIM:605376
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Bardet-Biedl Syndrome 8
Hypogonadism, Situs inversus totalis OMIM:615985
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Asplenia, C... OMIM:244400
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Ciliary dyskinesia OMIM:614017
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Reduced sperm motility OMIM:615434
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Myelomenin... OMIM:613686
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... ORPHA:1908
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Strok... OMIM:249270
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Persistent left superior vena cava, Tracheoesophageal fistula, Eso... OMIM:314390
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Mirror Movements 3
Situs inversus totalis OMIM:616059
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect OMIM:619881
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Bile duct prol... OMIM:208540
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
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... OMIM:267010
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia OMIM:612518
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Ciliary Dyskinesia, Primary, 44
Recurrent sinusitis, Bronchiectasis, Heterotaxy OMIM:618781
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Left superior vena cava draining directly to the left a... OMIM:619657
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Situs inversus totalis, Asplenia, High palate OMIM:612776
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Hep... ORPHA:1759
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Skraban-Deardorff Syndrome
Ventriculomegaly, Right aortic arch, Cleft palate, Ventricular septal defect OMIM:617616
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Holoprosencephaly,... OMIM:202650
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc... OMIM:608978
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:615938
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Azoosperm... OMIM:300845
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:615937
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 50
Chronic bronchitis, Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motil... OMIM:620356
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anal atresia, Patent ductus arteriosus, Dextrocardia, High palate ORPHA:2863
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis, Lissencephaly, Polymicrogyria OMIM:614833
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Joubert Syndrome
Polymicrogyria, Situs inversus totalis, Encephalocele, Abnormality of neuronal migration, Agangli... ORPHA:475
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice OMIM:613095
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus OMIM:618709
Bardet-Biedl Syndrome 17
Hypogonadism, Situs inversus totalis, Dextrocardia OMIM:615994
Chudley-Mccullough Syndrome
Gray matter heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:604213
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Double Outlet Right Ventricle
Hypoplastic left heart, Intestinal malrotation, Tetralogy of Fallot, Heterotaxy, Submucous cleft ... ORPHA:3426
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Gastroesophageal reflux, Hydrocephalus ORPHA:250994
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia OMIM:619436
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Polymicrogyria, Ventricular septal defect, Atrial septal defect, Hydrocephalus,... OMIM:603387
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Pseudotrisomy 13 Syndrome
Polymicrogyria, Median cleft palate, Complete atrioventricular canal defect, Encephalocele, Ventr... OMIM:264480
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Abnormal heart morpholo... ORPHA:980
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Microglossia, Situs inversus totalis ORPHA:990
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Acalvaria
Abnormal lung lobation, Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprose... ORPHA:945
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Bronchiectasis, Recurrent sinusitis OMIM:618449
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Recurrent sinusitis, Reduced sperm motility, Recurrent respir... OMIM:612649
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Mosaic Trisomy 9
Ventriculomegaly, Abnormal lung lobation, Intestinal malrotation, Abnormal heart valve morphology... ORPHA:99776
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Accessory spleen, In... OMIM:618280
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Czeizel-Losonci Syndrome
Myelomeningocele, Tracheoesophageal fistula, Spina bifida, Dextrocardia, Hydrocephalus, Spina bif... ORPHA:2437
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Periventricular heterotopia, Coarctation of aorta, Dextrocardia, H... OMIM:618929
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Renpenning Syndrome
High, narrow palate, Anal atresia, Cleft palate, Heterotaxy ORPHA:3242
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Congenital Hydrocephalus
Ventriculomegaly, Abnormal cortical gyration, Abnormal heart morphology, Colpocephaly, Hydrocepha... ORPHA:2185
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Recurrent sinusitis, Immotil... OMIM:617091
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, Dandy-Walker malfor... OMIM:607091
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Aortic aneurysm, Patent ductus arteriosus, Frontal encephalocele ORPHA:261102
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Ence... ORPHA:564
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Mitral valve prolapse, Hydrocephalus, Hypergonadotropic hypogon... ORPHA:2183
Marden-Walker Syndrome
High, narrow palate, Pulmonary hypoplasia, Zollinger-Ellison syndrome, Dextrocardia, Dandy-Walker... OMIM:248700
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Cholestasis, Congenital h... OMIM:619534
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Abnormality of neuronal migration, Atrial septal defect, Aplasia... ORPHA:93274
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Hydrocephalus, Gray matter hetero... OMIM:600348
Proximal 16P11.2 Microdeletion Syndrome
Ventriculomegaly, Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic valve morph... ORPHA:261197
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Abnormal lung lobation, Hypogonadism, Ventricular septal defect, Patent ductus ... OMIM:300514
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Alg3-Cdg
Cardiomyopathy, Decreased liver function, Abnormality of the gastrointestinal tract, Dandy-Walker... ORPHA:79321
Joubert Syndrome With Ocular Defect
Polymicrogyria, Encephalocele, Aganglionic megacolon, Hydrocephalus, Dextrocardia, Cleft palate ORPHA:220493
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... ORPHA:99125
Marden-Walker Syndrome
Bifid uvula, Situs inversus totalis, Submucous cleft hard palate, Ventricular septal defect, Abno... ORPHA:2461
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia ORPHA:352682
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormal heart valve morphology, Emphysema, Situs inversus totalis... ORPHA:289
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... ORPHA:1926
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:265380
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
3C Syndrome
High, narrow palate, Aortic valve stenosis, Hypoplastic left heart, Gastroesophageal reflux, Vent... ORPHA:7
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly, Reduced sperm motility OMIM:602271
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Poland Syndrome
Dextrocardia OMIM:173800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Intellectual Developmental Disorder, X-Linked 112
Gastroesophageal reflux, Volvulus, Abnormal heart morphology, Right aortic arch, Bicuspid aortic ... OMIM:301111
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Vascular dilatation, Patent ductu... OMIM:220220
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Tracheoesophageal fistula, Atrial septal defect, Dextrocardia, High palate, Hepatomegaly, Glossit... OMIM:277380
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Tetrasomy 9P
Absent gallbladder, Abnormal mitral valve morphology, Dextrocardia, Oligozoospermia, Jaundice, Hi... ORPHA:3310
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Inflammation of the large intestine, Elevated circulating hepatic tra... OMIM:614576
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormality of the menstrual cycle, Abnormal tricuspid valve morphol... ORPHA:90308
Congenital Toxoplasmosis
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hydrocep... ORPHA:858
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Simplified gyral pattern OMIM:619301
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pu... OMIM:220210
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, In... ORPHA:449400
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pachygyria, Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern OMIM:619302
Thanatophoric Dysplasia
Ventriculomegaly, Atrial septal defect, Hydrocephalus, Gray matter heterotopia, Patent ductus art... ORPHA:2655
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Male infertility OMIM:618801
Neurooculorenal Syndrome
Ventriculomegaly, Anteriorly placed anus, Polymicrogyria, Intestinal malrotation, Tetralogy of Fa... OMIM:620305
Fryns Syndrome
Abnormal aortic arch morphology, Ventriculomegaly, Gastroesophageal reflux, Intestinal malrotatio... ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Dextrocardia, Patent ductus arteriosus, Pyloric stenosis ORPHA:1571
Thoracoabdominal Syndrome
Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly, Patent ductus ar... OMIM:313850
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Abnormal heart morphology, Tetralogy of Fallot, Aplasia/Hypoplasia of the ga... ORPHA:96092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Type II lissencephaly, Left ventricular hypertrophy, Hydrocephalus, Dandy-Walke... OMIM:613153
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency, Umbilical hernia ORPHA:199302
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydrocephalus, Atrial septal defect, High palate, Patent ductus arterios... OMIM:614846
Johanson-Blizzard Syndrome
Anteriorly placed anus, Exocrine pancreatic insufficiency, Abnormal cardiac septum morphology, De... ORPHA:2315
Lissencephaly 5
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic... OMIM:615191
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Sp... OMIM:610333
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Patent ductus arteriosus, Umbilical hernia ORPHA:1516
Fried Syndrome
High palate, Hydrocephalus ORPHA:85335
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Pyloric ste... OMIM:218350
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:141333
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:602501
Emanuel Syndrome
Aortic valve stenosis, Bifid uvula, Ventriculomegaly, Gastroesophageal reflux, Recurrent respirat... ORPHA:96170
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Protruding tongue, Ven... OMIM:612938
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, High palate OMIM:269920
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Coronary artery fistula, Ventricular septal defect, Dextrocardia, Abnormal cardiac s... OMIM:614294
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encephaloc... ORPHA:1335
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Abnormal pulmonary ... ORPHA:974
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Gastroesophageal reflux, Recurrent respiratory infection... OMIM:609029
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Mitra... OMIM:619472
Fliedner-Zweier Syndrome
Hypoplastic aortic arch, Ventricular septal defect, Bicuspid aortic valve, Anal atresia, Tracheoe... OMIM:620511
Diets-Jongmans Syndrome
Umbilical hernia, Heterotaxy, Ventricular septal defect, Interrupted inferior vena cava with azyg... OMIM:618846
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Abnormal sperm head morphology, Reduced sperm motility ORPHA:320391
Ring Chromosome 7 Syndrome
Bifid uvula, Ventriculomegaly, Hypogonadism, Situs inversus totalis, Median cleft palate, Holopro... ORPHA:1449
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Recurrent lower respirato... OMIM:618699
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus ORPHA:272
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Intestinal malrotation, Dilatation of the cerebral artery, Aortic ar... OMIM:613834
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Vascular dilatation, Gray matter hete... OMIM:219730
Craniotelencephalic Dysplasia
Lissencephaly, Hydrocephalus, Frontal encephalocele ORPHA:1528
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Dysplastic ... ORPHA:1600
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresia, Hypo... ORPHA:2876
Triploidy
Intestinal malrotation, Abnormality of the gallbladder, Abnormality of the pancreas, Hydrocephalu... ORPHA:3376
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Occipital encephalocele, Hydrocephalu... OMIM:607361
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Ventriculomegaly, Cholestasis, Splenomegaly, Ventricular septa... OMIM:615630
Kleeblattschaedel
Hydrocephalus OMIM:148800
Distal Triplication 15Q
Abnormal heart morphology, Hypoplastic aortic arch, Atrial septal defect, Hydrocephalus, High pal... ORPHA:314588
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Renpenning Syndrome 1
Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Anal atresia, Atrial sept... OMIM:309500
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Conge... OMIM:619111
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Charge Syndrome
Ventricular septal defect, Overriding aorta, Atrial septal defect, Anal atresia, Holoprosencephal... OMIM:214800
6P22 Microdeletion Syndrome
Hydrocephalus, Patent ductus arteriosus ORPHA:251046
You-Hoover-Fong Syndrome
Double aortic arch, Vascular ring, Coarctation of aorta, Cleft palate OMIM:616954
Desmosterolosis
Lissencephaly, Bifid uvula, Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Intesti... ORPHA:35107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Encephalocele, Tran... OMIM:253800
Meckel Syndrome, Type 6
Hepatic fibrosis, Occipital encephalocele, Absent gallbladder, Hepatic cysts, Cystic liver diseas... OMIM:612284
Dural Sinus Malformation
Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Carpenter Syndrome 2
High, narrow palate, Umbilical hernia, Situs inversus totalis, Transposition of the great arterie... OMIM:614976
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ventricular septal defect ORPHA:96097
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Abnormality of the gas... ORPHA:33276
Congenital Sialidosis Type 2
Cherry red spot of the macula, Abnormal heart morphology, Umbilical hernia, Hepatosplenomegaly, R... ORPHA:93400
Lowry-Maclean Syndrome
High, narrow palate, Abnormality of the abdominal organs, Atrioventricular canal defect, Coarctat... ORPHA:2409
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Dandy-Walker malfo... OMIM:611134
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Umbilical hernia, Abnormal heart morphology, Atrial septal defect, Hydrocephalu... OMIM:175700
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Polymicrogyria, Type II lissencephaly,... ORPHA:370959
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Hydrocephalus, Cardiomyopathy OMIM:613155
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Atrial septal defect, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Gray matt... ORPHA:1860
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventriculomegaly, Gastroesophageal reflux, Right aortic arch, Ventricular septal defect, Pachygyr... ORPHA:513456
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Anorectal anomaly, Abnormality of the spleen, Abnormality of the liver, ... ORPHA:1834
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Colonic diverticula, Dilated cardiomyopathy, Hepatic fibrosis, Hepatic ... OMIM:243800
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Dilatation of the cerebral artery, Hepatic cysts, Mitral valve prolapse, Ab... ORPHA:730
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Celiac disease, Hydrocephalus OMIM:248000
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, High palate, Hydrocephalus, Ventriculomegaly OMIM:304100
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Anal atre... OMIM:612582
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Gaucher Disease, Type Ii
Gastroesophageal reflux, Bronchiolitis, Splenomegaly, Hepatomegaly, Recurrent aspiration pneumoni... OMIM:230900
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de... OMIM:600001
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Double ... OMIM:614886
Digeorge Syndrome
High, narrow palate, Bifid uvula, Interrupted aortic arch, Gastroesophageal reflux, Right aortic ... OMIM:188400
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Periventricular heterotopia, Ventricular septal defec... OMIM:619895
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Lateral ventricle dilatation, Anteriorly placed anus, Submucous cleft hard p... OMIM:612863
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Hydrocephalus, Cleft palate, Pulmonary hypoplasia OMIM:241800
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Immotile sperm, Ciliary dyskinesia OMIM:242670
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnorma... ORPHA:141127
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... OMIM:616034
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Hydrocephalus, Cleft palate OMIM:243440
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Patent ductus arteriosus, Umbilical hernia ORPHA:171839
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... OMIM:610168
Fg Syndrome Type 1
Ventriculomegaly, Abnormal large intestine morphology, Gastroesophageal reflux, Umbilical hernia,... ORPHA:93932
Catel-Manzke Syndrome
Bifid uvula, Umbilical hernia, Ventricular septal defect, Overriding aorta, Coarctation of aorta,... OMIM:616145
Metatropic Dysplasia
Hydrocephalus, Aplasia/Hypoplasia of the lungs, Cleft palate ORPHA:2635
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Holopros... ORPHA:77298
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Cleft palate ORPHA:398189
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Atrial septal defect, Hydrocephalus, Gray matter heterotopia, Rig... OMIM:615219
Gaucher Disease, Type Iiic
Aortic valve calcification, Calcification of the aorta, Mitral stenosis, Splenomegaly, Cardiomega... OMIM:231005
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
Rubinstein-Taybi Syndrome 1
Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, High palate, Patent ductu... OMIM:180849
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Jaundice, Decreased fer... ORPHA:79239
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Umbilical hernia, Antenatal intracerebral hemorrhage, Bicuspid aortic valve,... ORPHA:536545
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Arteriovenous malformation, Hydrocephalus, Polymicrogyria ORPHA:60040
Neonatal Lupus Erythematosus
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:398124
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, High palate, Patent ductus arteriosus OMIM:609757
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Gray matter heterotopia, Dysp... OMIM:207950
Griscelli Syndrome
Hepatitis, Encephalocele, Splenomegaly, Hydrocephalus, Hepatomegaly, Jaundice, Pyloric stenosis ORPHA:381
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein morphology... ORPHA:60015
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Ventriculom... ORPHA:2072
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Esophageal stricture, Achalasia, Hydrocephalus, In... OMIM:617053
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Meckel diverticulum, Hydrocephalus, Dysphagia, Dandy-Walker malformation ORPHA:163961
Whipple Disease
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Erectile dysfunction, Hydrocephalus, Myo... ORPHA:3452
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Aqueductal stenosis, Anal atresia, Hydrocephalus OMIM:276950
22Q11.2 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Anal atresia, Patent ductus arteriosus, Gastroin... ORPHA:567
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hepatic failure, Ventriculomegaly, Cardiomyopathy, Polymicrogyria, Hepatic s... ORPHA:228308
Restrictive Dermopathy
Microcolon, Pulmonary hypoplasia, Small placenta, Large placenta, Short umbilical cord, Submucous... ORPHA:1662
Microphthalmia, Syndromic 2
Aortic valve stenosis, Bifid uvula, Umbilical hernia, Mitral valve prolapse, Submucous cleft hard... OMIM:300166
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Periportal fibrosis, Atelectasis, Hamartoma of tongue, Intestinal malrotati... OMIM:269860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Hydrocephalus, Polymicrogyria OMIM:615181
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Cleft palate OMIM:614120
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defect of... ORPHA:2255
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Linear Skin Defects With Multiple Congenital Anomalies 1
Anteriorly placed anus, Colonic atresia, Histiocytoid cardiomyopathy, Ventricular septal defect, ... OMIM:309801
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Hydrocephalus, Splenomegaly, Pericarditis ORPHA:163596
Fanconi Anemia
Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Atrial septal defect, High palate, A... ORPHA:84
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pleural effusion, Hydrocephalus, Dandy-Walker malformation, Pericardial effusio... OMIM:617822
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Umbilical hernia ORPHA:380
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Proteus-Like Syndrome
Bronchogenic cyst, Splenomegaly, Venous insufficiency, Hydrocephalus, Communicating hydrocephalus ORPHA:2969
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilata... OMIM:620371
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Cerebral hemorrhage, Ischemic stroke, Abnormal cerebral artery morphology,... ORPHA:90065
Nephronophthisis 18
Cholestasis, Portal fibrosis, Hydrocephalus OMIM:615862
Heart And Brain Malformation Syndrome
High, narrow palate, Interrupted aortic arch, Gastroesophageal reflux, Ventricular septal defect,... OMIM:616920
Joubert Syndrome With Hepatic Defect
Elevated circulating hepatic transaminase concentration, Occipital encephalocele, Portal hyperten... ORPHA:1454
Von Willebrand Disease
Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Abnormal mitral valve morphology, V... ORPHA:903
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Dandy-Walker malformation, Meningocele, ... OMIM:614424
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Ventriculomegaly, Polymicrogyria, Ileus, Colpocephaly, Hydrocephalus, High p... OMIM:620156
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Intestinal pseudo-obstruction, Umbilical hernia, Abnormal heart valve morpho... OMIM:309900
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Chylothorax, Abnormal heart morphology, Cerebral arteriovenous malfor... ORPHA:137667
Alexander Disease Type I
Dysphagia, Hydrocephalus ORPHA:363717
Cystic Fibrosis
Cor pulmonale, Recurrent pneumonia, Bronchiectasis, Biliary cirrhosis, Exocrine pancreatic insuff... OMIM:219700
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
High, narrow palate, Hydrocephalus, Umbilical hernia ORPHA:2181
Cutis Laxa, Autosomal Recessive, Type Iib
Gastroesophageal reflux, Vascular tortuosity, Hydrocephalus, Prominent superficial veins, High pa... OMIM:612940
Trisomy 1Q
Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Anal atresia, Patent ductus arteriosu... ORPHA:261344
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelopathy, Male sexual dysfunction, Female sexual dysfunction, Venous malfo... ORPHA:79093
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus OMIM:618577
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Atrial sep... ORPHA:261311
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus, Macroglossia, High palate, Patent d... ORPHA:261290
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Gastroesophageal reflux, Periventricular heterotopia, Colpocephaly, Hydrocephal... OMIM:619833
Intellectual Developmental Disorder, X-Linked 30
High palate, Hydrocephalus OMIM:300558
Myopathy, Centronuclear, X-Linked
Elevated circulating hepatic transaminase concentration, Hydrocephalus, High palate, Dandy-Walker... OMIM:310400
Orofaciodigital Syndrome I
Hepatic fibrosis, Abnormal cortical gyration, Hamartoma of tongue, Ankyloglossia, Abnormal heart ... OMIM:311200
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Polymicrogyria, Hydrocephalus, Dandy-Walker malformation, Clef... OMIM:225790
H Syndrome
Hypogonadism, Varicose veins, Azoospermia, Hepatosplenomegaly, Amenorrhea, Hydrocephalus, Recurre... ORPHA:168569
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Ventriculomegaly, Hydrocephalus ORPHA:2770
B4Galt1-Cdg
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hydrocephalus, Hepatomegal... ORPHA:79332
Coccidioidomycosis
Pneumonia, Vasculitis, Increased CSF protein concentration, Hypoglycorrhachia, Exudative pleural ... ORPHA:228123
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Hydrocephalu... OMIM:130720
De Barsy Syndrome
Prominent veins on trunk, Umbilical hernia, Hypoplastic aortic arch, Ventricular septal defect, P... ORPHA:2962
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopa... OMIM:617506
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased intestinal transit time, Villous atroph... OMIM:619377
Walker-Warburg Syndrome
Lissencephaly, Bifid uvula, Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Submuco... ORPHA:899
Aase-Smith Syndrome I
Dandy-Walker malformation, Hydrocephalus, Cleft palate, Ventricular septal defect OMIM:147800
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation, Polymicrogyria OMIM:614219
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Familial Peripheral Male-Limited Precocious Puberty
Oligozoospermia, Male infertility ORPHA:3000
Loeys-Dietz Syndrome 6
Bifid uvula, Ventricular hypertrophy, Spontaneous pneumothorax, Broad uvula, Vertebral artery ane... OMIM:619656
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Pneumonia, Gastroesophageal reflux, Vascular ring, Recurrent respiratory i... ORPHA:353281
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus, Pyloric stenosis OMIM:616355
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anal atresia, Bile duct proliferation, Patent ductus art... OMIM:249000
Limb Body Wall Complex
Abnormal heart morphology, Myelomeningocele, Abnormality of the liver, Encephalocele, Short umbil... ORPHA:2369
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Macroglossia, Hydrocephalus ORPHA:1914
Holoprosencephaly
Gastroesophageal reflux, Spinal dysraphism, Tetralogy of Fallot, Abnormality of the spleen, Media... ORPHA:2162
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Amenorrhea, Hydrocephalus, Oligozoos... ORPHA:91348
1Q44 Microdeletion Syndrome
Ventriculomegaly, Intestinal malrotation, Hydrocephalus, Abnormal cardiac septum morphology, High... ORPHA:238769
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Arterial dissection, Recurrent pneumonia, Abnormal venous morphology, Aortic... ORPHA:1900
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Subvalvular aortic stenosis, Hyd... OMIM:613001
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Hydrocephalus, Abnormal cardiac se... ORPHA:2075
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Peripheral pulmonary artery stenosis, Recurrent upper re... ORPHA:264450
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Cardiomyopathy, Pachygyria, Polymicrogyria, Abnormality of neuronal migration, H... ORPHA:157
Temple Syndrome
Bifid uvula, Hydrocephalus ORPHA:254516
Temple Syndrome
Bifid uvula, High palate, Hydrocephalus, Cleft palate OMIM:616222
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Pneumonia, Gastroesophageal reflux, Vascular ring, Recurrent respiratory i... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Pneumonia, Gastroesophageal reflux, Vascular ring, Recurrent respiratory i... ORPHA:353277
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Feingold Syndrome Type 1
Interrupted aortic arch, Tricuspid stenosis, Abnormal heart morphology, Multiple muscular ventric... ORPHA:391641
47,Xyy Syndrome
Azoospermia, Hydrocephalus, Oligozoospermia, Male infertility ORPHA:8
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Right aortic arch, Ventricular s... OMIM:164210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Gastroesophageal reflux, Elevated circulating hepatic transaminase conce... ORPHA:17
Gjc2-Related Late-Onset Primary Lymphedema
Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins... ORPHA:568051
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Polymicrogyria, Hamartoma of tongue, Anencephaly, Atrial septal defect, Hydroce... OMIM:616546
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045