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Gene: Cfap45 MGI:1919120

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Gene Summary

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

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.

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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
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... 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
Left Isomerism, Situs inversus totalis, Reduced respiratory ciliary beating frequency, Patent duc... OMIM:618300
Ciliary Dyskinesia, Primary, 18
Male infertility, Situs inversus totalis, Immotile cilia, Respiratory insufficiency due to defect... OMIM:614874
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, ... OMIM:613807
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Respira... OMIM:615500
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Abnormal sperm motility, Male infertility, Abnormal atrial arra... ORPHA:244
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile ... OMIM:615444
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Immotile cilia, Infertility, Recurrent sinusitis, Ciliary... OMIM:613193
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recur... OMIM:300991
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Female infertility, Situs inversus totalis, Bronchiectasis, Right aortic arch OMIM:617577
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Immotile cilia, Infertility, Recurrent sinusitis, Ciliary... OMIM:615481
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Asplenia, Dextrocardia, Male infertility OMIM:618948
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile sperm, Ciliary... OMIM:612650
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... OMIM:614779
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Coile... OMIM:620197
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immot... OMIM:614935
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... OMIM:608647
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ciliary... OMIM:612444
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, In... OMIM:613808
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respiratory insufficiency due to def... OMIM:615451
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Inferti... OMIM:616481
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile ... OMIM:606763
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile cilia, Infertility OMIM:618063
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ci... OMIM:608644
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Abnormal ciliary motil... OMIM:611884
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Respiratory insufficien... OMIM:615504
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Respiratory insufficien... OMIM:615505
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary d... OMIM:614679
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Stroke, Gastro... OMIM:249270
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Abnormal ciliary motility, Ciliary dyskinesia, Bronchiectasis OMIM:614017
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism OMIM:615985
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, As... OMIM:244400
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Spermatogenic Failure, X-Linked, 6
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... OMIM:301101
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Reduced sperm motility OMIM:615434
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Abnormality of the spleen, Pat... ORPHA:3097
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Pulmonary ... OMIM:314390
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis OMIM:612518
Mirror Movements 3
Situs inversus totalis OMIM:616059
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis OMIM:619881
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Choroid ... OMIM:267010
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Dandy-Walker malformation, Hepatomegaly, Portal... OMIM:208540
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
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
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
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 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar... OMIM:306955
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis OMIM:617092
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Cryptorchidism, Patent ductus arteriosus, High palate, Anal atresia ORPHA:2863
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia OMIM:612776
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Intestinal malrotation, Meningocele, Duodenal stenosis, Abnormal tric... ORPHA:1759
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... OMIM:619657
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Skraban-Deardorff Syndrome
Right aortic arch, Cleft palate, Ventricular septal defect, Ventriculomegaly OMIM:617616
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Holoprosencephaly,... OMIM:202650
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventri... OMIM:300845
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Gastroesophageal reflux ORPHA:250994
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Ciliary Dyskinesia, Primary, 50
Male infertility, Coiled sperm flagella, Reduced sperm motility, Chronic bronchitis, Short sperm ... OMIM:620356
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Meningocele, Abno... ORPHA:991
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Situs inversus totalis, Hydrocephalus, Abnormality of neuro... ORPHA:475
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts OMIM:613095
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the pulmonary artery... ORPHA:2326
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Microphthalmia, Syndromic 9
Ventricular septal defect, Agenesis of pulmonary vessels, Cryptorchidism, Patent ductus arteriosu... OMIM:601186
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Bardet-Biedl Syndrome 17
Situs inversus totalis, Hypogonadism, Dextrocardia OMIM:615994
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:604213
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... OMIM:264480
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Vascular ring, Atrial septal defect, Pachygyria, Polymi... OMIM:603387
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm ORPHA:261102
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Velocardiofacial Syndrome
Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard pal... OMIM:192430
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Coronary si... OMIM:618280
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ciliary Dyskinesia, Primary, 41
Infertility, Bronchiectasis, Recurrent sinusitis, Immotile sperm OMIM:618449
Mosaic Trisomy 9
Ventriculomegaly, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina... ORPHA:99776
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Microglossia, Holoprosencephaly ORPHA:990
Renpenning Syndrome
High, narrow palate, Cleft palate, Heterotaxy, Decreased testicular size, Anal atresia ORPHA:3242
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia, Reduced sperm motility OMIM:619436
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Dextrocardia OMIM:618067
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Acalvaria
Spina bifida, Hydrocephalus, Abnormal lung lobation, Abnormality of neuronal migration, Cleft pal... ORPHA:945
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Periventricular heterotopia, Cryptorchidism, Coarctation of aorta, High palate, Atr... OMIM:618929
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... ORPHA:2257
Meckel Syndrome
Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inv... ORPHA:564
Ciliary Dyskinesia, Primary, 34
Male infertility, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent sinusi... OMIM:617091
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic br... OMIM:612649
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Marden-Walker Syndrome
Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Elli... OMIM:248700
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High pala... ORPHA:2437
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... OMIM:601927
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Abnormal heart morphology, Colpocephaly, Lissencephaly... ORPHA:2185
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Tetralogy ... ORPHA:1926
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Elevated circulating aspartate aminotransferase concentration, Dandy-Walker malfor... OMIM:607091
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Thanatophoric Dysplasia Type 2
Encephalocele, Patent ductus arteriosus, Hydrocephalus, Abnormality of neuronal migration, Aplasi... ORPHA:93274
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Azoosp... ORPHA:2183
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Polymicrogyria ORPHA:220493
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Abnormal aortic valve mo... ORPHA:261197
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Hydrocephalus,... ORPHA:2461
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Cryptorchidism, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia ... ORPHA:96092
Alg3-Cdg
Abnormality of the gastrointestinal tract, Coarctation of the descending aortic arch, Cardiomyopa... ORPHA:79321
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Ventricular septal defect, Esophageal atresia, Patent ductus arte... OMIM:300514
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Pyloric steno... OMIM:218350
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Hydroceph... ORPHA:2306
Fryns Syndrome
Ventriculomegaly, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Abnormal aortic ... ORPHA:2059
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Polymicrogyria ORPHA:83473
3C Syndrome
Recurrent respiratory infections, Ventriculomegaly, Anal atresia, Ventricular septal defect, Abno... ORPHA:7
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va... OMIM:220220
Poland Syndrome
Dextrocardia OMIM:173800
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Dextrocardia, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Atr... OMIM:277380
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coronary artery fistula, A... OMIM:614294
Tetrasomy 9P
Biliary atresia, High palate, Pachygyria, Patent foramen ovale, Bifid uvula, Dandy-Walker malform... ORPHA:3310
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Neurooculorenal Syndrome
Dextrocardia, Intestinal malrotation, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Mitral ... OMIM:620305
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Abnormal cortical gyratio... OMIM:614576
Diets-Jongmans Syndrome
Ventricular septal defect, Cryptorchidism, Heterotaxy, Interrupted inferior vena cava with azygou... OMIM:618846
Johanson-Blizzard Syndrome
Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Abnormal cardia... ORPHA:2315
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Hydrocephalus, Ventriculomegaly ORPHA:858
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Hypoplasti... OMIM:220210
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Recurrent pneumonia, Reduced sperm motility OMIM:602271
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pachygyria, Pulmonary hypoplasia OMIM:618174
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Abnormality of the m... ORPHA:90308
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern OMIM:619302
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... ORPHA:449400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Type II lissencephaly OMIM:614830
Isolated Cleft Lip
Situs inversus totalis, Umbilical hernia, Velopharyngeal insufficiency ORPHA:199302
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydroceph... OMIM:612938
Thanatophoric Dysplasia
Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Pulmonary hypoplasia, Atrial se... ORPHA:2655
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Transpo... OMIM:313850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern, Lissencepha... OMIM:613153
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Cardiomegaly OMIM:300886
Triploidy
Hepatomegaly, Intestinal malrotation, Cryptorchidism, Abnormality of the pancreas, Abnormality of... ORPHA:3376
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia OMIM:618801
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, High palate, Atrial septal defe... OMIM:614846
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Type II lissencephaly ORPHA:324416
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Patent ductus arteriosus, Hydrocephalus ORPHA:1516
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF... OMIM:610333
Emanuel Syndrome
Recurrent respiratory infections, Ventriculomegaly, Ventricular septal defect, Truncus arteriosus... OMIM:609029
Fried Syndrome
Hydrocephalus, High palate ORPHA:85335
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cryptorchidism, Patent d... ORPHA:1600
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Abnormal heart morphology, Hydr... ORPHA:314588
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia ORPHA:96097
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventricular septal defect, Ventriculomegaly OMIM:602501
Emanuel Syndrome
Recurrent respiratory infections, Ventriculomegaly, Anal atresia, Ventricular septal defect, Trun... ORPHA:96170
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:141333
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Cleft palate, High palate, Atrial septal defec... OMIM:309500
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, High palate OMIM:269920
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Ring Chromosome 7 Syndrome
Situs inversus totalis, Cleft palate, Hydrocele testis, Hypogonadism, Holoprosencephaly, Median c... ORPHA:1449
Carpenter Syndrome 2
Dextrocardia, Bilateral cryptorchidism, Situs inversus totalis, Cryptorchidism, Patent ductus art... OMIM:614976
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... ORPHA:1335
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical hernia, Ventriculomegaly OMIM:175700
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Abnormality of the abdominal organs, Hydrocephalus, High, narrow palate... ORPHA:2409
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Esophageal at... ORPHA:77298
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate amin... OMIM:243800
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly, Type II lissencephaly ORPHA:272
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation, Hydrocephalus, Gray matter heterotopia, Ventricul... OMIM:219730
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Lissencephaly ORPHA:1528
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Bronchiectasis, Abd... OMIM:618699
Meckel Syndrome, Type 3
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, C... OMIM:607361
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestasis, Hepatic fibros... OMIM:615630
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Patent ductus arteriosus, Umbilical hernia, Hydrocephalus ORPHA:171839
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Desmosterolosis
Abnormal cortical gyration, Intestinal malrotation, Pachygyria, Splenomegaly, Patent ductus arter... ORPHA:35107
Kleeblattschaedel
Hydrocephalus OMIM:148800
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... OMIM:619472
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Charge Syndrome
Secundum atrial septal defect, Holoprosencephaly, Atrial septal defect, Pulmonary artery atresia,... OMIM:214800
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
You-Hoover-Fong Syndrome
Coarctation of aorta, Cleft palate, Double aortic arch, Vascular ring OMIM:616954
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Portal fibrosis, Hepat... OMIM:619111
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coarctat... OMIM:616145
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, High palate, Ventriculomegaly OMIM:609757
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Ciliary dyskinesia, Immotile sperm OMIM:242670
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Digeorge Syndrome
Ventricular septal defect, Atelectasis, Splenomegaly, Recurrent pneumonia, Patent ductus arterios... OMIM:188400
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... ORPHA:97339
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size ORPHA:649929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Lissencephaly,... OMIM:253800
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Hydrocephalus, Pyloric... ORPHA:93932
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Clef... OMIM:612284
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... OMIM:611134
Congenital Sialidosis Type 2
Hepatomegaly, Protruding tongue, Respiratory tract infection, Hydrocephalus, Hepatosplenomegaly, ... ORPHA:93400
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Cleft palate, Right aortic arch, Gastroesophageal reflux, Pachygyria, ... ORPHA:513456
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Venous insufficiency, Abnormality of the spleen, Abnor... ORPHA:33276
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Aortic root aneurysm, Dilatati... ORPHA:730
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Gray matter h... ORPHA:370959
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Gray matter heterotopia... ORPHA:1860
Proteus Syndrome
Splenomegaly, Venous malformation OMIM:176920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Cardiomyopathy, Hydrocephalus OMIM:613155
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Aplasia/H... ORPHA:1834
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:618577
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly OMIM:304100
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplastic t... OMIM:600001
Myopathy, Centronuclear, X-Linked
Elevated hepatic transaminase, Cryptorchidism, Hydrocephalus, Pyloric stenosis, High palate, Dand... OMIM:310400
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia, High palate... OMIM:612582
Holoprosencephaly 14
Ventriculomegaly, Ventricular septal defect, Periventricular heterotopia, Alobar holoprosencephal... OMIM:619895
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Rubinstein-Taybi Syndrome 1
Bilateral cryptorchidism, High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, Hig... OMIM:180849
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Patent ductus arteriosus, Dysplastic tricuspid valve, Hydrocephalus, Submuco... OMIM:612863
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Cho... OMIM:614886
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect OMIM:243440
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Gastroesophageal reflux, Dysphagia, Bronchiolitis, Recurrent aspirati... OMIM:230900
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... ORPHA:1727
22Q11.2 Deletion Syndrome
Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroesophageal refl... ORPHA:567
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Dilated cardiomyopathy,... ORPHA:398124
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Cleft palate, Pulmonary hypoplasia, Microglossia OMIM:241800
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... ORPHA:141127
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Hydrocephalus, Dysphagia, Meckel diverticulum, Ventriculomegaly ORPHA:163961
Trisomy 1Q
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Cleft palate,... ORPHA:261344
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Cryptorchidism, Patent ductus arteriosus, Hypoplastic ao... OMIM:300166
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Cleft palate ORPHA:2635
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Cleft palate ORPHA:398189
Mirage Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Esophage... OMIM:617053
Classic Galactosemia
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, D... ORPHA:79239
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Hydrocephalus, Cle... ORPHA:2075
Temple Syndrome
Cryptorchidism, Hydrocephalus, Bifid uvula ORPHA:254516
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Malabsorption, Myocarditis, Splenomegaly... ORPHA:3452
Temple Syndrome
Cryptorchidism, Hydrocephalus, Cleft palate, Bifid uvula, High palate, Decreased testicular size OMIM:616222
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, High palate, Umbil... ORPHA:536545
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... OMIM:613001
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Arteriovenous malformation, Ventriculomegaly ORPHA:60040
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Cleft palate, Abnormal cerebral vein morphology, Venou... ORPHA:60015
Griscelli Syndrome
Encephalocele, Hepatomegaly, Splenomegaly, Jaundice, Hydrocephalus, Pyloric stenosis, Hepatitis ORPHA:381
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... OMIM:615219
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
De Barsy Syndrome
Recurrent sinopulmonary infections, Ventricular septal defect, Cryptorchidism, Patent ductus arte... ORPHA:2962
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Dysp... OMIM:207950
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Fanconi Anemia
Abnormality of the liver, High palate, Atrial septal defect, Spina bifida, Aplasia/Hypoplasia of ... ORPHA:84
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Hydro... OMIM:130720
H Syndrome
Malabsorption, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Hepatosplenomegaly, Azoosper... ORPHA:168569
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... ORPHA:2255
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Anal atresia, Abnormal heart morphology OMIM:276950
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical hernia OMIM:601499
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Aortic valve calcification, Abnormality of the spleen, Splenomegaly, ... ORPHA:2072
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, High, narrow palate, Hydrocephalus, Abnormality of neuronal migration... ORPHA:228308
Restrictive Dermopathy
Dextrocardia, Large placenta, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tu... ORPHA:1662
Hydrolethalus Syndrome 2
Cleft palate, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Atelectasis... OMIM:269860
Walker-Warburg Syndrome
Ventriculomegaly, Abnormal cortical gyration, Pachygyria, Cryptorchidism, Hydrocephalus, Submucou... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly OMIM:615181
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Ischemic stroke, L... ORPHA:90065
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Pericarditis, Hydrocephalus ORPHA:163596
Bresek Syndrome
Aganglionic megacolon, Cryptorchidism, Hydrocephalus, Cleft palate, Decreased testicular size ORPHA:85284
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Meckel Syndrome, Type 1
Occipital encephalocele, Asplenia, Lobulated tongue, Dandy-Walker malformation, Accessory spleen,... OMIM:249000
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus ORPHA:380
Heart And Brain Malformation Syndrome
Ventricular septal defect, High, narrow palate, Gastroesophageal reflux, Interrupted aortic arch,... OMIM:616920
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Hi... OMIM:617822
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Nephronophthisis 18
Hydrocephalus, Portal fibrosis, Cholestasis OMIM:615862
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hydrocephalus, Cleft palate, Anteriorly placed anus,... OMIM:309801
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... ORPHA:353281
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coa... OMIM:617506
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Occipital encephalocele, Portal hypertension, Congen... ORPHA:1454
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Intracranial ... OMIM:614424
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Proteus-Like Syndrome
Communicating hydrocephalus, Venous insufficiency, Splenomegaly, Hydrocephalus, Bronchogenic cyst ORPHA:2969
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Trisomy 8P
Dandy-Walker malformation, Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus, R... ORPHA:264450
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... OMIM:609192
Alexander Disease Type I
Hydrocephalus, Dysphagia ORPHA:363717
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Polymicrogyria, Ventriculom... OMIM:620156
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... ORPHA:261311
Trisomy 17P
Patent ductus arteriosus, Hydrocephalus, Cleft palate, Macroglossia, High palate, Hypoplastic lef... ORPHA:261290
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, Pulmonary ... ORPHA:1865
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Hydrocephalus, Colpocephaly, High palate, Gastroesophageal reflux, V... OMIM:619833
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, High palate OMIM:300558
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, High... ORPHA:250989
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
High, narrow palate, Hydrocephalus, Umbilical hernia ORPHA:2181
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Hydrocephalus, Abnormal he... ORPHA:137667
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Bicuspid aortic valve, V... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Bicuspid aortic valve, V... ORPHA:353277
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydrocephalus, Cleft palate, Hydranencephaly, Polymicrogyria, Ventricu... OMIM:225790
Holoprosencephaly
Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m... ORPHA:2162
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hamartoma of tongue, Pancreatic cysts, Vascular dilatation, Myelomeni... OMIM:311200
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Splenomegaly, Hydro... OMIM:309900
Foix-Alajouanine Syndrome
Myelopathy, Cervical myelopathy, Male sexual dysfunction, Arteriovenous fistula, Female sexual dy... ORPHA:79093
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Dilation of Virchow-Robin spaces OMIM:619951
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly ORPHA:2770
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
47,Xyy Syndrome
Male infertility, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Cle... ORPHA:2166
Poland Syndrome
Encephalocele, Dextrocardia, Cryptorchidism, Abnormality of the liver, Atrial septal defect, Spin... ORPHA:2911
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Aase-Smith Syndrome I
Cleft palate, Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Adams-Oliver Syndrome 2
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation OMIM:614219
Houge-Janssens Syndrome 1
Pyloric stenosis, Hydrocephalus, Ventriculomegaly OMIM:616355
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... ORPHA:91348
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis ORPHA:2119
Vitamin K Antagonist Embryofetopathy
Macroglossia, Myelomeningocele, Hydrocephalus ORPHA:1914
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
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
1Q44 Microdeletion Syndrome
Intestinal malrotation, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Ventricul... ORPHA:238769
Hydrolethalus
Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Bifid uvula ORPHA:2189
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Coccidioidomycosis
Pericarditis, Pneumonia, Abnormality of the spleen, Peritonitis, Vasculitis, Hydrocephalus, CSF p... ORPHA:228123
Cutis Laxa, Autosomal Recessive, Type Iib
Gastroesophageal reflux, Prominent superficial veins, High palate, Hydrocephalus OMIM:612940
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial diss... ORPHA:1900
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocep... ORPHA:163979
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Anal atresia ORPHA:3301
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Hepatic calcification... ORPHA:157
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Gastrointestin... ORPHA:391641
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophageal reflux, Holoprosencephaly,... OMIM:270400
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Opitz-Kaveggia Syndrome
Anal stenosis, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Cleft pal... OMIM:305450
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Clef... OMIM:164210
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal pro... OMIM:219700
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Recurrent respiratory infections, Hepatic steatosis, Hepatomegaly,... ORPHA:17
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Apert Syndrome
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Esophageal atresia, P... OMIM:101200
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Atrial septa... OMIM:616546
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Aortic ... OMIM:616914
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Ventriculomegaly, Hydr... OMIM:614643
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesop... ORPHA:3412
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f... ORPHA:1780
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Narrow palate, Mitral valve prolapse, High palate, Gastroesophagea... OMIM:182212
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:1647
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Abnormality of the pancreas, Narrow palate, Cleft palate, Anterior... ORPHA:1555
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon ORPHA:275543
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus, Pulmonary hypoplasia OMIM:187600
Marshall-Smith Syndrome
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Re... OMIM:602535
Pallister-Hall Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobation, Clef... OMIM:146510
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Recurrent upper respi... OMIM:253220
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly placed ... OMIM:239300
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, High palate, Umbilical hernia OMIM:104350
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Lissencephaly, Agyria, Type II lissencephaly OMIM:615249
Crouzon Syndrome
Hydrocephalus, Narrow palate ORPHA:207
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cleft pa... OMIM:300712
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, ... OMIM:607014
Desmosterolosis
Hydrocephalus, Patent ductus arteriosus, Cleft palate, Total anomalous pulmonary venous return, V... OMIM:602398
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cleft palate, Atrial septal defect, Aortic valve stenosis, Dandy-Walker malformation ORPHA:459061
Rhombencephalosynapsis
Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fis... ORPHA:59315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Type II lissence... OMIM:613154
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Polymicrogyria ORPHA:220497
Radial Aplasia, X-Linked
Hydrocephalus, Anal atresia OMIM:312190
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage ORPHA:624
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Abnormality of the gastrointestinal tract, Primary testicular fai... ORPHA:85450
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Aganglionic megacolon, Abnormality of neuronal migration ORPHA:2318
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Abnormal lung lobation, Cleft palate OMIM:217100
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hydrocephalus, ... OMIM:619575
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Hydrocephalus, Ventriculomegaly ORPHA:2169
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:616362
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Esophage... OMIM:227646
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Ventriculome... OMIM:613603
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pylor... OMIM:147791
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... ORPHA:355
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus, Hydrocephalus, High palate, Atrial septal defect, Annular pancreas OMIM:618162
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Medulloblastoma
Elevated hepatic transaminase, Cerebellar hemorrhage, Adenomatous colonic polyposis, Hydrocephalu... ORPHA:616
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Mitral valve prola... ORPHA:536467
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, High palate ORPHA:2180
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Cleft palate, Mitral valve prolapse, Aortic r... OMIM:245600
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Cleft palate, Pulmonic stenosis, Atrial septal d... OMIM:257300
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Periventricular heterot... OMIM:612289
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphol... ORPHA:505248
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Hypogonadism, Gastroesophageal reflux, Dilated third ventricle, Ve... ORPHA:500055
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Abnormal heart valve morphology, Malabsorption, Splenomegaly, H... ORPHA:579
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Cryptorchidism, Men... OMIM:236670
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, High palate, Ventriculomegaly OMIM:614969
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Simplified gy... ORPHA:96121
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Coarctation of aorta ORPHA:268249
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Sple... ORPHA:581
Icf Syndrome
Communicating hydrocephalus, Recurrent respiratory infections, Malabsorption, Protruding tongue, ... ORPHA:2268
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Cryptorchidism, Hydro... ORPHA:1340
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Cryptorchidism, Pulmonary artery stenosi... ORPHA:96334
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal heart valve morphology, Splenomegaly, Hy... ORPHA:93473
Carney Complex
Neoplasm of the pancreas, Sertoli cell neoplasm, Neoplasm of the stomach, Testicular neoplasm, He... ORPHA:1359
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Hydro... OMIM:300373
Tenorio Syndrome
Hydrocephalus, Recurrent pneumonia, Macroglossia, Gastroesophageal reflux, Ventriculomegaly OMIM:616260
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Tetrasomy 5P
Recurrent respiratory infections, Hydrocephalus, High palate, Pulmonary hypoplasia ORPHA:3309
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Plasminogen Deficiency, Type I
Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Dandy-Walker malform... OMIM:217090
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Type II lissencephaly, Hydrocephalus, Cleft palate, Macroglossia, Pachygyria, Vent... OMIM:613150
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Cleft palate, Gl... ORPHA:90652
Perlman Syndrome
Distal ileal atresia, Cryptorchidism, Pancreatic islet-cell hyperplasia, Interrupted aortic arch,... OMIM:267000
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Branchial cyst, Ventricular septal defect, Complete atrioventricular... ORPHA:508488
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Periventricular heterotopia OMIM:618476
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Cryptorchidism, Hydrocephalus, Cleft palate, Ventriculomegaly ORPHA:1812
Pfeiffer Syndrome Type 2
Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Anal atresia ORPHA:93259
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Hydrocephalus, Pneumo... ORPHA:538
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like e... ORPHA:137675
Charge Syndrome
Aortic arch aneurysm, Hypogonadotropic hypogonadism, Aqueductal stenosis, Cryptorchidism, Patent ... ORPHA:138
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Hydrocephalus, Hydrocele testis, High palate, Umbilical hernia OMIM:613776
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Cleft palate, Coarctation of aorta, Abnormal cardiac septum morpho... ORPHA:2322
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly OMIM:616538
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Clef... ORPHA:1272
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Intestinal malrotation, Ventriculomegaly OMIM:617866
Muenke Syndrome
High, narrow palate, Hydrocephalus ORPHA:53271
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Floating-Harbor Syndrome
Celiac disease, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mes... OMIM:136140
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydroceph... ORPHA:261337
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Splenomegaly, Hydrocephalus, Recurrent upper respiratory tract infection... OMIM:253200
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va... ORPHA:580
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Mitral stenosis, Intes... ORPHA:955
Kabuki Syndrome 1
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Malabsorption, Cryptorchidism, ... OMIM:147920
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aganglionic megacolon, Aqueductal stenosis, Patent ductus arteriosus, ... OMIM:154400
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Patent ductus arteriosus, Stroke, Gastroesophageal reflux, Splenic c... OMIM:618188
Hajdu-Cheney Syndrome
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Hydr... OMIM:102500
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Gastroesophageal reflux, Hydrocephalus, Irregular menstruation OMIM:616482
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, High palate... OMIM:619512
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia ORPHA:2839
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Testicular ne... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Testicular ne... ORPHA:363958
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Hydrocephalus, Submucous cleft hard palate, High palate, Gastroesophageal reflux, P... OMIM:115150
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Hydrocephalus, Abnormal heart morphology, ... ORPHA:79282
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Abnormal lung lobation, High palate, Gastroesophageal reflux, Atrial septa... OMIM:607872
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Simplified gyral pattern, Lateral ventricle dilatation, Normal pressure hydrocephalus, Lissenceph... ORPHA:300570
Cryptococcosis
Pneumonia, Nodular pattern on pulmonary HRCT, Peritonitis, Hydrocephalus, Cirrhosis, Pleural effu... ORPHA:1546
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ascending aorta hypoplasia, High palate, Hepatic steatosis, Cleft soft palate, Portal hypertensio... OMIM:619503
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Hepatomegaly, Hydrocephalus OMIM:259700
Apert Syndrome
Esophageal atresia, Hydrocephalus, Narrow palate, Cleft palate, Ectopic anus, Bifid uvula, Ventri... ORPHA:87
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Abnormal cortical gyration, Pachygyria, Cryptorchidism, Muscular ventr... OMIM:210710
Hemangioblastoma
Hydrocephalus ORPHA:252054
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Hepatoblastoma, Atrial septal defect, Hepatomegaly, Exaggerated median to... OMIM:312870
Endocrine-Cerebroosteodysplasia
Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Median cleft palate, Vent... OMIM:612651
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, High, narrow palate, Mitral valve prolapse, Abnormal... ORPHA:2462
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Ankyloglossia, Hydrocephalus OMIM:602361
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... ORPHA:1677
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism ORPHA:1237
Peho Syndrome
Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly ORPHA:2836
Floating-Harbor Syndrome
Celiac disease, Cryptorchidism, Tetralogy of Fallot, Coarctation of aorta, Gastroesophageal reflu... ORPHA:2044
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia ORPHA:3016
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Osteogenesis Imperfecta
Abnormal endocardium morphology, Intestinal obstruction, Cerebral hemorrhage, Hydrocephalus, Nonc... ORPHA:666
Sturge-Weber Syndrome
Hydrocephalus, Stroke, Abnormal cerebral vascular morphology, Dysphagia ORPHA:3205
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Subependymal nodules, Dysphagia, Ventriculomegaly ORPHA:25
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Hepatosplenomegaly OMIM:259710
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Stroke, Ventriculomegaly ORPHA:395
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Cole-Carpenter Syndrome 2
Hydrocephalus, High palate OMIM:616294
Peters Plus Syndrome
Intestinal fistula, Cryptorchidism, Patent ductus arteriosus, Bicuspid pulmonary valve, Spina bif... ORPHA:709
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Ventriculomegaly ORPHA:457284
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Hydrocephalus ORPHA:585
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Costello Syndrome
Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Pneumothorax, Mitral valve prolapse, ... OMIM:218040
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Hydrocephalus, Cleft palate, Duodenal ... OMIM:243605
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Cleft palate OMIM:224400
Dubowitz Syndrome
Anal stenosis, Malabsorption, Cryptorchidism, Hydrocephalus, Rectal prolapse, Submucous cleft har... ORPHA:235
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly... ORPHA:667
Mend Syndrome
Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Aortic valve... ORPHA:401973
Fanconi Anemia, Complementation Group R
Hydrocephalus, Anal atresia OMIM:617244
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Pneumonia, Bronchitis, Respiratory tract infec... ORPHA:125
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus ORPHA:220295
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Venous malformation, Spinal dysraphism OMIM:612918
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Narrow palate, Anteriorly placed anus, High palate, Bifid uvula, Ventriculomegaly OMIM:123790
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ... OMIM:109400
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Hepatic failure, Ventriculomegaly OMIM:259720
Menkes Disease
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial... ORPHA:565
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus, Polymicrogyria ORPHA:65285
Arachnoiditis
Hydrocephalus ORPHA:137817
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Abnormal venous morphology, Abnormal cerebral vascular morphology ORPHA:276280
Acrodysostosis 1 With Or Without Hormone Resistance
Hypogonadism, Cryptorchidism, Hydrocephalus, Irregular menstruation OMIM:101800
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Hydrocephalus, T... OMIM:107480
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, High palate OMIM:608091
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Abnormal cortical gyration, Cryptorchidism, M... OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Pachygyria, Cryptorchidism, Hydrocephalus, High, narrow ... ORPHA:3472
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Microphthalmia With Limb Anomalies
Venous insufficiency, Cryptorchidism, Hydrocephalus, Cleft palate, High palate ORPHA:1106
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, High palate OMIM:620351
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Pfeiffer Syndrome
Hydrocephalus, High palate OMIM:101600
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Mohr Syndrome
Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Bifid tongue OMIM:252100
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Crouzon Syndrome
Hydrocephalus, High palate OMIM:123500
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus OMIM:207410
Livedoid Vasculopathy
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke ORPHA:542643
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, High palate OMIM:618590
Oxoglutaric Aciduria
Hydrocephalus, Abnormal salivary gland morphology ORPHA:31
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic valve, High, narrow pal... OMIM:619475
Achondroplasia
Hydrocephalus ORPHA:15
Cockayne Syndrome A
Hepatomegaly, Cryptorchidism, Splenomegaly, Irregular menstruation, Normal pressure hydrocephalus... OMIM:216400
Noonan Syndrome 1
Male infertility, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, High, narr... OMIM:163950
Raine Syndrome
Protruding tongue, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplasia OMIM:259775
15Q Overgrowth Syndrome
High, narrow palate, Hydrocephalus, High palate, Bifid uvula, Dandy-Walker malformation ORPHA:314585
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Achondroplasia
Hydrocephalus, Pulmonary hypoplasia OMIM:100800
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... OMIM:610828
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Narrow palate, Cleft palate, High palate, Dandy-Walker malformation... OMIM:605627
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Hydrocephalus, High, narrow palate, Decreased fertility, Primary amenorrhea, Olig... ORPHA:95699
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, High palate ORPHA:2720
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Tuberous Sclerosis Complex
Respiratory tract infection, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Pulmonary lymph... ORPHA:805
Monosomy 9Q22.3
Umbilical hernia, Hydrocephalus, Cardiac fibroma, Ventriculomegaly ORPHA:77301
Mend Syndrome
Cryptorchidism, Hydrocephalus, High palate, Aortic valve stenosis, Dandy-Walker malformation OMIM:300960
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Cryptorchidism, Hydroceph... ORPHA:322
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Bicuspid aortic valve, Unilateral cryptorchidism, Bilateral crypt... ORPHA:1772
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Achalasia OMIM:616007
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Abnormal cortical gyration, Complete atrioventricula... OMIM:236680
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology,... ORPHA:2556
Alobar Holoprosencephaly
Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes... ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes... ORPHA:220386
Oeis Complex
Intestinal malrotation, Cryptorchidism, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, ... OMIM:258040
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Occipital Horn Syndrome
Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Abnor... ORPHA:198
Alexander Disease
Aqueductal stenosis, Hydrocephalus, High palate, Dysphagia ORPHA:58
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Microglossia, Cleft palate OMIM:260660
Meningioma
Hypogonadotropic hypogonadism, Cerebral hemorrhage, Hydrocephalus, Impotence, Neoplasm of the ton... ORPHA:2495
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, High, narrow palate, Cleft palate, High palate, Pulmonary hypoplas... OMIM:208150
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Abnormal heart morphology OMIM:227650
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Hydrocephalus, Hypoplasia of the ovary, Hepatic steato... OMIM:619321
Baller-Gerold Syndrome
Anomalous splenoportal venous system, Hydrocephalus, Spina bifida occulta, Cleft palate, Abnormal... OMIM:218600
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism, Hydrocephalus, High palate, Patent foramen ovale ORPHA:221120
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Cryptorchidism, Pulmona... OMIM:235730
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Hydrocephalus, Cleft soft palate, Cleft palate ORPHA:2736
Fanconi Anemia, Complementation Group L
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Anal atresia OMIM:614083
Clapo Syndrome
Varicose veins, Venous malformation ORPHA:168984
Wolf-Hirschhorn Syndrome
Accessory spleen, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Malrotation of small ... OMIM:194190
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Cardiomyopathy, Communicating hydrocephalus OMIM:616084
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Recurrent upper respiratory tract infections, Submucous cleft hard p... OMIM:114290
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess OMIM:600145
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,... OMIM:273395
Holoprosencephaly 9
Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Cleft palate, Bilateral cleft lip and ... OMIM:610829
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the menstrual cycle, Venous insufficiency, Malabsorption, Gastrointestinal dysmoti... ORPHA:285
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Biliary tract abnormality, Reduced sperm motility, Pancreatic hypo... OMIM:137920
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, High, narrow palate, Submucous cleft hard palate, Cleft palate, Hy... ORPHA:2658
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida OMIM:162200
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Subm... OMIM:619325
Peters-Plus Syndrome
Ventricular septal defect, Bilobate gallbladder, Cryptorchidism, Patent ductus arteriosus, Hydroc... OMIM:261540
Craniopharyngioma
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:54595
Fraser Syndrome 3
Hydrocephalus, Abnormal lung lobation OMIM:617667
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Prominent scalp veins, Pneumonia, Secundum atrial septal defect... OMIM:264090
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Neurofibromatosis Type 1
Neoplasm of the gastrointestinal tract, Cryptorchidism, Hydrocephalus, Arterial stenosis ORPHA:636
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent gastroenterit... ORPHA:309282
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Jaundice, Hypoglycorrhachia, Hepatosplenomegaly ORPHA:168577
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Otopalatodigital Syndrome, Type Ii
Spina bifida, Cryptorchidism, Hydrocephalus, Cleft palate, Atrial septal defect, Umbilical hernia... OMIM:304120
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Cryptorchidism, Patent ductus arteriosus, Mild fetal ventriculomegal... OMIM:619841
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Hypogonadotropic hypogonadism, Cryptorchidism, Congenital malformation of ... ORPHA:3455
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, High ... ORPHA:363700
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocepha... OMIM:268300
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Focal Dermal Hypoplasia
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Hydrocephalus, Myelomeningocele, Cleft pal... OMIM:305600
Mowat-Wilson Syndrome
Bicuspid aortic valve, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Bifid uvula, Pu... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Asplenia, Cleft hard palate, Abnormality of the pulmonary artery, Bifid uv... ORPHA:261537
Cockayne Syndrome B
Splenomegaly, Cryptorchidism, Normal pressure hydrocephalus, Hepatomegaly OMIM:133540
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus, Dysphagia ORPHA:637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Hydrocephalus, Pachygyria, Polymicrogyria, Type II lissencephaly OMIM:253280
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Asplenia, Cleft hard palate, Abnormality of the pulmonary artery, Bifid uv... ORPHA:261552
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, High palate, Ventriculomegaly OMIM:617011
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, High palate, Ventriculomegaly ORPHA:457359
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Norrie Disease
Venous insufficiency, Cryptorchidism, Erectile dysfunction ORPHA:649

Histopathology

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

There is no histopathology data for Cfap45

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 Cfap45.

No publications found that use IMPC mice or data for Cfap45.

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
Cfap45tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cfap45em1(IMPC)Mhzh Indel Mice
Cfap45tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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