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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
Partial atrioventricular canal defect, Reduced progressive sperm motility, Duodenal atresia, Prim... 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
Infertility, Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal def... OMIM:618300
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Chronic bronchitis, Heterotaxy, Reduced sperm motility, Situs inversus totalis, M... OMIM:613807
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Immotile sperm, Chronic bronchitis,... OMIM:614874
Ciliary Dyskinesia, Primary, 25
Infertility, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Ciliary dyskinesia, Bronc... OMIM:615482
Ciliary Dyskinesia, Primary, 26
Infertility, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Re... OMIM:615500
Primary Ciliary Dyskinesia
Hydrocephalus, Female infertility, Anomalous pulmonary venous return, Polysplenia, Abnormal heart... ORPHA:244
Ciliary Dyskinesia, Primary, 37
Infertility, Situs inversus totalis, Dextrocardia, Bronchiectasis, Right aortic arch OMIM:617577
Ciliary Dyskinesia, Primary, 22
Infertility, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Re... OMIM:615444
Ciliary Dyskinesia, Primary, 13
Infertility, Situs inversus totalis, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesi... OMIM:613193
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 36, X-Linked
Infertility, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory i... OMIM:300991
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Reduced sperm motility, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasi... OMIM:612650
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:614935
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Recurrent sinusitis, Male infertility, Ciliary dyskinesia, Pneumonia, Bro... OMIM:612444
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Reduced sperm m... OMIM:608647
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Dextrocardi... OMIM:615067
Dextrocardia
Hydrocephalus, Congenital malformation of the great arteries, Intestinal malrotation, Abnormality... ORPHA:1666
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Chronic bronchitis, Situs inversus totalis, Ciliary dyskinesia, Recu... OMIM:613808
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615451
Ciliary Dyskinesia, Primary, 2
Infertility, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Immotile c... OMIM:606763
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis, Ab... OMIM:611884
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respir... OMIM:608644
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Situs inversus totali... OMIM:615382
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility, Abdominal situs inversus OMIM:619607
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Infertility, Dextrocardia, Bronchiectasis OMIM:618063
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615504
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:615505
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Unilateral vertebral artery hypoplasia, Spina bifida occulta, Situs inversus to... OMIM:613686
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... OMIM:615415
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:616037
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Reduced progressive sperm motility, Duodenal atresia, Prim... OMIM:619608
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism OMIM:615985
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Abnormal ciliary motility, Ciliary dyskinesia, Bronchiectasis OMIM:614017
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Situs inversus totalis, Male infertility, Recurrent bronchitis, Cili... OMIM:244400
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory i... OMIM:614679
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, Pulmonary arter... ORPHA:1908
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:620032
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Situs inversus ... OMIM:249270
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Choroid plexus cyst, ... OMIM:267010
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... OMIM:231060
Mirror Movements 3
Situs inversus totalis OMIM:616059
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Persisten... OMIM:609008
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... OMIM:208540
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis OMIM:612518
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Hepatomegaly, Atrial septal defect, Gastroesophageal reflux OMIM:619881
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615938
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Hypoglossia With Situs Inversus
High palate, Situs inversus totalis, Microglossia, Polysplenia, Asplenia OMIM:612776
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... OMIM:306955
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tric... ORPHA:1759
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:617092
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:615937
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Dextrocardia, Anal atresia, Patent ductus arteriosus ORPHA:2863
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Cleft palate, Holoprosencephaly, Situs inversus totalis, Aglossia,... OMIM:202650
Joubert Syndrome
Hydrocephalus, Polymicrogyria, Situs inversus totalis, Abnormality of neuronal migration, Encepha... ORPHA:475
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Hypogonadism OMIM:615994
Pagod Syndrome
Hypoplastic left heart, Abnormality of the spleen, Situs inversus totalis, Pulmonary artery hypop... ORPHA:991
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Ventriculomegaly, Subcortical band hetero... OMIM:600348
Johnson Neuroectodermal Syndrome
Cleft palate, Hypogonadotropic hypogonadism, Ventricular septal defect, Patent ductus arteriosus,... OMIM:147770
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly OMIM:618709
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria OMIM:604213
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... ORPHA:3426
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Hepatic cysts, Situs inversus totalis, Dextrocardia, Jaundice OMIM:613095
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Catel-Manzke Syndrome
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:616145
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Hypogonadotropic hypogonadism, Pulmonary artery hypo... ORPHA:2326
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Coarctat... OMIM:264480
Congenital Tracheomalacia
Atrial septal defect, Gastroesophageal reflux, Single ventricle, Double aortic arch, Tracheoesoph... ORPHA:95430
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Duodenal atresia, Atrial septal defect, Double inlet left ventricl... OMIM:270100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism,... OMIM:314390
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections OMIM:106700
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate OMIM:221950
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility, Recurrent sinusitis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis OMIM:619436
1Q21.1 Microduplication Syndrome
Hydrocephalus, Gastroesophageal reflux, Tetralogy of Fallot ORPHA:250994
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Atrial septal defect, Polymicrogyria, Ventricular septal defect, Pachygyria, Vascu... OMIM:603387
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Infertility, Immotile sperm, Bronchiectasis OMIM:618449
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Microglossia, Holoprosencephaly ORPHA:990
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... OMIM:601186
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... ORPHA:980
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Abnormal lung lobation, Abnormality of neuronal m... ORPHA:945
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Reduced sperm motility, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectas... OMIM:612649
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Recurrent sinusitis, Recurrent bronchitis, Male infertility, Reduced respiratory ... OMIM:617091
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cleft palate, Dextrocardia, Pulmonary hypoplasia, Pneumothorax, Ab... ORPHA:2257
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Mosaic Trisomy 9
High palate, Atrial septal defect, Cleft palate, Intestinal malrotation, Abnormal liver lobulatio... ORPHA:99776
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Periventricular heterotopia, Atrioventricular canal defect, Coarctation of aorta, De... OMIM:618929
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Czeizel-Losonci Syndrome
Myelomeningocele, High palate, Hydrocephalus, Tracheoesophageal fistula, Spina bifida occulta, De... ORPHA:2437
Renpenning Syndrome
Anal atresia, High, narrow palate, Cleft palate, Heterotaxy ORPHA:3242
Congenital Hydrocephalus
Hydrocephalus, Abnormal cortical gyration, Lissencephaly, Ventriculomegaly, Colpocephaly, Abnorma... ORPHA:2185
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Double aorti... OMIM:192430
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Intestinal malrotation, Accessory... OMIM:618280
Short Rib-Polydactyly Syndrome
Cleft palate, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Hepatic fibrosis, Ga... ORPHA:1505
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Accessory spl... ORPHA:564
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminot... OMIM:619534
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Marden-Walker Syndrome
High palate, High, narrow palate, Cleft palate, Pyloric stenosis, Dextrocardia, Pulmonary hypopla... OMIM:248700
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, High, narrow palate, Hypergonadotropic hypogonadism, Mitral valve prolapse, Azoosp... ORPHA:2183
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Patent ductus arteriosus, Ventriculomegal... ORPHA:93274
Isotretinoin-Like Syndrome
Hydrocephalus, Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Aortic valve stenosi... ORPHA:2306
Joubert Syndrome With Ocular Defect
Hydrocephalus, Cleft palate, Polymicrogyria, Dextrocardia, Encephalocele, Aganglionic megacolon ORPHA:220493
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Alg3-Cdg
High palate, Abnormal uvula morphology, Decreased liver function, Macroglossia, Coarctation of th... ORPHA:79321
Fanconi Anemia, Complementation Group B
Hydrocephalus, Duodenal atresia, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Coarc... OMIM:300514
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Marden-Walker Syndrome
Hydrocephalus, Cleft palate, Abnormal anatomic location of the heart, Bifid uvula, Ventricular se... ORPHA:2461
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Hepatomegaly OMIM:300884
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Gastroesophageal reflux, Cleft palate, Abnormal aortic valve morphology, Py... ORPHA:261197
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Ellis Van Creveld Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Situs inversus to... ORPHA:289
Diabetic Embryopathy
Hydrocephalus, Cleft palate, Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal... ORPHA:1926
3C Syndrome
Ectopic anus, Abnormal mitral valve morphology, Hydrocephalus, Anal atresia, Atrial septal defect... ORPHA:7
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Recurrent pneumonia, Reduced sperm motility OMIM:602271
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Meckel diverticulum OMIM:300864
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Patent ductus arteriosus, Vascula... OMIM:220220
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Poland Syndrome
Dextrocardia OMIM:173800
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice OMIM:129850
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Atrial septal defect, Aortic valve st... OMIM:220210
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Hepatomegaly, Abnormality of the menstrua... ORPHA:90308
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, Inflammation of the l... OMIM:614576
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Polymicrogyria ORPHA:83473
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Fanconi Anemia, Complementation Group R
Anal atresia, Hydrocephalus OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Malabsorption, Anal atresia, Exocrine pancreatic insufficienc... ORPHA:2315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:614830
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Male infertility, Immotile cilia, Recurrent respiratory infections OMIM:618801
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia, Atrial septal defect, Patent ductus arteriosus, Pulmonary... ORPHA:2655
Congenital Toxoplasmosis
Hydrocephalus, Hepatomegaly, Elevated hepatic transaminase, Ventriculomegaly, Jaundice, Cardiomegaly ORPHA:858
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Pulmonary hypoplasia, Microglossia, Occipital encephalocele, Abnorma... OMIM:241800
Tetrasomy 9P
High palate, Abnormal mitral valve morphology, Hydrocephalus, Abnormal cardiac septum morphology,... ORPHA:3310
Knobloch Syndrome
Hydrocephalus, Pyloric stenosis, Dextrocardia, Patent ductus arteriosus, Occipital encephalocele ORPHA:1571
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Simplified gyral pattern, Hydrocephalus OMIM:619470
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Da... ORPHA:96092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Left ventricular hypertrophy, Type II lissencephaly, Agyria, Lissencephaly, Ventri... OMIM:613153
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... ORPHA:449400
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Ectopic anus, Anal atresia, Aganglionic megacolo... ORPHA:2059
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency, Umbilical hernia ORPHA:199302
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Holoprosencephaly 5
High palate, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilob... OMIM:609637
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Patent ductus arteriosus, Umbilical hernia ORPHA:1516
Thoracoabdominal Syndrome
Hydrocephalus, Cleft palate, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition... OMIM:313850
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Ven... OMIM:610333
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Fried Syndrome
High palate, Hydrocephalus ORPHA:85335
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism ORPHA:141333
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Ventriculom... OMIM:218350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Ventriculomegaly, Polymicrogyria OMIM:602501
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Cleft palate, Bifid uvula, Ventricular septal defect, Lissencephaly, Patent ductus... OMIM:612938
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Pontocerebellar Hypoplasia, Type 15
Simplified gyral pattern, Hydrocephalus OMIM:619302
Emanuel Syndrome
High palate, Infertility, Hydrocephalus, Anal atresia, Atrial septal defect, Aortic valve stenosi... ORPHA:96170
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Cleft palate, Ventricular septal defect, Dextrocardia, Corona... OMIM:614294
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Hydrocephalus, Arteriovenous malformation, Cirrhosis, Tetral... ORPHA:974
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Abnormal sperm head morphology, Abnormal sperm morphology, Reduced sperm motility ORPHA:320391
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia, Ventricular septal defect, Vascular dilatation, Ventricul... OMIM:219730
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Cleft palate, Anencephaly, ... ORPHA:1335
Diets-Jongmans Syndrome
Duodenal atresia, Heterotaxy, Ventricular septal defect, Umbilical hernia, Interrupted inferior v... OMIM:618846
Infantile Sialic Acid Storage Disease
High palate, Hydrocephalus, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:269920
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Kleeblattschaedel
Hydrocephalus OMIM:148800
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Abdominal situs inv... OMIM:618699
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Monosomy 18Q
Absence of the pulmonary valve, High palate, Hydrocephalus, Aortic valve stenosis, Secundum atria... ORPHA:1600
Ciliary Dyskinesia With Defective Radial Spokes
Ciliary dyskinesia, Immotile sperm, Immotile cilia OMIM:242670
Desmosterolosis
Hydrocephalus, Anomalous pulmonary venous return, Cleft palate, Splenomegaly, Intestinal malrotat... ORPHA:35107
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating h... ORPHA:2184
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Hepatomegaly, Hepatic failure, Splenomegaly, Cholestasis, Ventricular septal defec... OMIM:615630
Meckel Syndrome, Type 3
Hydrocephalus, Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibr... OMIM:607361
Viss Syndrome
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... OMIM:619472
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Charge Syndrome
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Umbilical hernia, Double outl... OMIM:214800
Triploidy
Abnormal cardiac septum morphology, Hydrocephalus, Hepatomegaly, Cleft palate, Holoprosencephaly,... ORPHA:3376
Mental Retardation, Buenos Aires Type
High palate, Hydrocephalus, Atrial septal defect, Intrahepatic biliary atresia OMIM:249630
Hydrocephalus With Associated Malformations
Intestinal malrotation, Hydrocephalus, Pulmonary hypoplasia OMIM:236640
Johanson-Blizzard Syndrome
Anal atresia, Malabsorption, Exocrine pancreatic insufficiency, Atrial septal defect, Hepatic fai... OMIM:243800
Coach Syndrome 2
Hydrocephalus, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic fibrosis, Port... OMIM:619111
6P22 Microdeletion Syndrome
Hydrocephalus, Patent ductus arteriosus ORPHA:251046
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Polycystic liver disease, Abnormal systemic arterial morphology, Hepatic ... ORPHA:730
Renpenning Syndrome 1
High palate, Anal atresia, Atrial septal defect, Cleft palate, Tetralogy of Fallot, Ventricular s... OMIM:309500
Phaver Syndrome
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... ORPHA:2876
Distal Tetrasomy 15Q
High palate, Hydrocephalus, Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia,... ORPHA:314588
Craniotelencephalic Dysplasia
Hydrocephalus, Lissencephaly, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Distal Trisomy 5Q
Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the gastrointestinal tract, Abnormal lung morphology, V... ORPHA:33276
Lowry-Maclean Syndrome
Hydrocephalus, High, narrow palate, Cleft palate, Atrioventricular canal defect, Abnormality of t... ORPHA:2409
Meckel Syndrome, Type 6
Hydrocephalus, Cleft palate, Anencephaly, Hepatic cysts, Absent gallbladder, Pulmonary hypoplasia... OMIM:612284
Dural Sinus Malformation
Hydrocephalus, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal ... ORPHA:97339
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Congenital Sialidosis Type 2
Hydrocephalus, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Protruding tongue... ORPHA:93400
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gastroesophageal reflux, Cleft palate, Ventricular septal defect, Ventriculomegaly, Pachygyria, R... ORPHA:513456
Temple Syndrome
High palate, Hydrocephalus, Bifid uvula, Cleft palate OMIM:616222
Achondroplasia
Hydrocephalus OMIM:100800
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Cleft palate, Anencephaly, Ventricular septal defect, Mening... OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Type II lissencephaly, Ventriculomegaly, Occ... OMIM:615287
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia, Atrial septal defect, Patent ductus arteriosus, Ventricul... ORPHA:1860
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Hydrocephalus, Abnormality of the liver, Gastroesophageal reflux, Morphological abn... ORPHA:1834
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Ring Chromosome 7 Syndrome
Median cleft palate, Cleft palate, Holoprosencephaly, Bifid uvula, Situs inversus totalis, Ventri... ORPHA:1449
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly OMIM:300886
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Gray matter heterotopia, Macroglossia, Dilated fourth ventricle, Polymicrogyria, T... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Pulmonic stenosis, P... OMIM:253800
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Hydrocephalus, Atrial septal defect, High, narrow palate, Dysplastic pulmonary valve... OMIM:612863
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Umbilical hernia, Abnormal heart morphology OMIM:175700
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Anal atresia, Hydrocephalus, Atrial septal defect, Tetralogy of Fallot, Ventricular ... OMIM:612582
Holoprosencephaly 14
Double outlet right ventricle, Hydrocephalus, Periventricular heterotopia, Alobar holoprosencepha... OMIM:619895
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Hydrocephalus, Atrial septal defect, Hepatic failu... OMIM:614886
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Cleft palate ORPHA:2635
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Dysphagia, Meckel diverticulum ORPHA:163961
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Intestinal malro... OMIM:613834
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Cleft palate OMIM:614120
Whipple Disease
Hydrocephalus, Malabsorption, Hepatomegaly, Splenomegaly, Myocarditis, Pleuritis, Erectile dysfun... ORPHA:3452
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Meckel diverticulum, Hypoplastic left heart, Abnormal stomach mor... ORPHA:141127
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Biliary atresia, Ventricular septal defect, Pancreatic hypoplasia, U... OMIM:600001
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hydrocephalus, Hepatomegaly, Splenomegaly, Calcifica... OMIM:231005
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Patent ductus arteriosus, Umbilical hernia ORPHA:171839
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect, Cleft palate OMIM:243440
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Tracheoesophageal fistula, Ventricular septal defect, Patent du... ORPHA:77298
Kyphoscoliotic Ehlers-Danlos Syndrome
High palate, Bicuspid aortic valve, Subdural hemorrhage, Cerebral hemorrhage, Dextrocardia, Umbil... ORPHA:536545
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate, Intracranial hemorrhage ORPHA:398189
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... ORPHA:1727
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Arteriovenous malformation, Ventriculomegaly, Polymicrogyria ORPHA:60040
Classic Galactosemia
Hepatomegaly, Hepatic failure, Oligomenorrhea, Primary amenorrhea, Decreased fertility in females... ORPHA:79239
Digeorge Syndrome
High palate, Cholelithiasis, Gastroesophageal reflux, High, narrow palate, Cleft palate, Splenome... OMIM:188400
Fg Syndrome Type 1
High palate, Anal atresia, Hydrocephalus, Malrotation of colon, Atrial septal defect, Gastroesoph... ORPHA:93932
Carpenter Syndrome 2
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Situs inversus totalis, De... OMIM:614976
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Rubinstein-Taybi Syndrome 1
High palate, Cleft palate, Ventricular septal defect, High, narrow palate, Mitral valve prolapse,... OMIM:180849
Neonatal Lupus Erythematosus
Hydrocephalus, Hepatomegaly, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, Dilate... ORPHA:398124
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Aortic valve calcification, Hydrocephalus, Gastric ulcer,... ORPHA:2072
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Loeys-Dietz Syndrome 2
Hydrocephalus, Cleft palate, Pulmonary artery aneurysm, Aortic root aneurysm, Umbilical hernia, S... OMIM:610168
Griscelli Syndrome
Hydrocephalus, Hepatomegaly, Splenomegaly, Pyloric stenosis, Hepatitis, Encephalocele, Jaundice ORPHA:381
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Aganglionic megacolon OMIM:304100
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Williams-Beuren Region Duplication Syndrome
High palate, Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly OMIM:609757
Mend Syndrome
High palate, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation OMIM:300960
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Hepatomegaly, High, narrow palate, Hepatic failure, Hepatic calcification, Polymic... ORPHA:228308
Enlarged Parietal Foramina
Myelomeningocele, Cleft palate, Abnormal cerebral vein morphology, Venous malformation, Occipital... ORPHA:60015
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cholelithiasis, Hydrocephalus, Cleft palate, Ventricular septal defect, Umbili... ORPHA:567
H Syndrome
Amenorrhea, Hydrocephalus, Malabsorption, Hepatosplenomegaly, Recurrent pharyngitis, Hypogonadism... ORPHA:168569
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Nephronophthisis 18
Portal fibrosis, Hydrocephalus, Cholestasis OMIM:615862
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Dysphagia, Spina bifida, Cervical myelo... OMIM:207950
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Vacterl Association With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Abnormal heart morphology OMIM:276950
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Hepatomegaly, Splenomegaly, Pericarditis ORPHA:163596
Microphthalmia, Syndromic 2
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Bi... OMIM:300166
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, Hyperglycorrhachia, Left ventricular h... ORPHA:90065
Mirage Syndrome
Hydrocephalus, Gastroesophageal reflux, Hypergonadotropic hypogonadism, Aspiration pneumonia, Int... OMIM:617053
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy ORPHA:2701
Fanconi Anemia
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Arteriovenous malformation, Decre... ORPHA:84
Restrictive Dermopathy
Atrial septal defect, Short umbilical cord, Large placenta, Small placenta, Dextrocardia, Patent ... ORPHA:1662
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Vascular dilatation, Ventriculomegaly OMIM:602200
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Pulmonic st... ORPHA:2255
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hydrocephalus, Anal atresia, Atrial septal defect, Cleft palate, Ventricular septal defe... OMIM:309801
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Heart And Brain Malformation Syndrome
Gastroesophageal reflux, High, narrow palate, Ventricular septal defect, Interrupted aortic arch,... OMIM:616920
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Umbilical hernia ORPHA:380
Trisomy 1Q
Anal atresia, Hydrocephalus, Cleft palate, Ventricular septal defect, Patent ductus arteriosus, V... ORPHA:261344
Loeys-Dietz Syndrome 6
Carotid artery dilatation, High palate, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vert... OMIM:619656
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Hydrocephalus, Polymicrogyria OMIM:615181
Intellectual Developmental Disorder, X-Linked 30
High palate, Hydrocephalus OMIM:300558
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Hydrocephalus OMIM:600991
Proteus-Like Syndrome
Hydrocephalus, Splenomegaly, Communicating hydrocephalus, Bronchogenic cyst, Venous insufficiency ORPHA:2969
Myopathy, Centronuclear, X-Linked
High palate, Hydrocephalus, Pyloric stenosis, Elevated hepatic transaminase, Dandy-Walker malform... OMIM:310400
Loeys-Dietz Syndrome 1
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Eosinophilic infiltrati... OMIM:609192
Foix-Alajouanine Syndrome
Female sexual dysfunction, Myelopathy, Arteriovenous fistula, Venous malformation, Male sexual dy... ORPHA:79093
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Neoplasm of the liver, Hepatomegaly, Intrahepatic biliary atresia, Splenomegaly, C... ORPHA:1454
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Walker-Warburg Syndrome
Hydrocephalus, Cleft palate, Bifid uvula, Polymicrogyria, Abnormal cortical gyration, Lissencepha... ORPHA:899
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Hepatomegaly, Periportal fibrosis, Holoprosencephaly, Intestinal malrotation, Sple... OMIM:269860
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Arteriovenous malformation, Peripheral arteriovenous fistula, Chylothorax, Arterio... ORPHA:137667
Orofaciodigital Syndrome I
Myelomeningocele, High palate, Hydrocephalus, Gray matter heterotopia, Cleft palate, Bifid tongue... OMIM:311200
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Hematochezia, Hypoplastic aortic arc... ORPHA:261311
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Hypogonadism OMIM:601794
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, High, narrow palate, Umbilical hernia ORPHA:2181
Chromosome 17P13.1 Deletion Syndrome
High palate, Hydrocephalus OMIM:613776
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Hepatomegaly, Macroglossia, Splenomegaly, Hepatosplenomegaly, Recurrent pneumonia,... OMIM:309900
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
High palate, Hydrocephalus, Periventricular heterotopia, Gastroesophageal reflux, Ventriculomegal... OMIM:619833
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Alkuraya-Kucinskas Syndrome
High palate, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Ventriculomegaly, Pericardial... OMIM:617822
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Nasu-Hakola Disease
Hydrocephalus, Functional abnormality of the gastrointestinal tract, Ventriculomegaly ORPHA:2770
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Cleft palate, Dandy-Walker malformation OMIM:147800
Intellectual Developmental Disorder, Autosomal Dominant 35
Pyloric stenosis, Hydrocephalus, Ventriculomegaly OMIM:616355
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Anencephaly, Malformation of the... OMIM:249000
Coccidioidomycosis
Hydrocephalus, Pancreatitis, CSF pleocytosis, Pleural empyema, Hypoglycorrhachia, Peritonitis, Ab... ORPHA:228123
Osteootohepatoenteric Syndrome
Hydrocephalus, Microvesicular hepatic steatosis, Ileoileal intussusception, Cholestasis, Villous ... OMIM:619377
Holoprosencephaly
Abnormal pulmonary valve morphology, Hydrocephalus, Gastroesophageal reflux, Intestinal atresia, ... ORPHA:2162
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Abnormality of the gallbladder, ... ORPHA:2075
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Peripheral pulmonary artery stenosis, Atrial septal defect, Ventricular septal def... OMIM:613001
1Q44 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Intestinal malrotation, Ventricul... ORPHA:238769
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Hepatomegaly, Chronic bronchitis, Macroglossia, Splenomegaly, Recurrent upper resp... OMIM:253220
Trisomy 17P
High palate, Hydrocephalus, Aortic valve stenosis, Hypoplastic left heart, Cleft palate, Macroglo... ORPHA:261290
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Aganglionic megacolon OMIM:613603
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Hydrocephalus, Impotence, Oligospermia, Abnormality of the menstrual cyc... ORPHA:91348
Central Precocious Puberty
Hydrocephalus ORPHA:759
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Atrial septal defect, Cleft palate, Short umbilical cord, Anence... ORPHA:2369
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Hydrocephalus, Prominent superficial veins, Gastroesophageal reflux OMIM:612940
Trisomy 8P
Annular pancreas, Hydrocephalus, Peripheral pulmonary artery stenosis, Cleft palate, Malrotation ... ORPHA:264450
Feingold Syndrome Type 1
Tricuspid atresia, Anal atresia, Duodenal atresia, Tricuspid stenosis, Patent ductus arteriosus, ... ORPHA:391641
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Hepatomegaly, Hepatic failure, Hepatic calcification, Polymicrogyria, Abnormality ... ORPHA:157
De Barsy Syndrome
Prominent veins on trunk, High palate, Recurrent sinopulmonary infections, Ventricular septal def... ORPHA:2962
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Arterial dissection, Abnormal venous morphology, Mitral valve prolapse, Aort... ORPHA:1900
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, High palate, Hydrocephalus, Atrial septal defect, Patent ductus arteriosus OMIM:618162
B4Galt1-Cdg
Hydrocephalus, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Dandy-Walker malformation ORPHA:79332
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Thakker-Donnai Syndrome
Anal atresia, Tracheoesophageal fistula, Tetralogy of Fallot, Communicating hydrocephalus, Ventri... ORPHA:1780
Gjc2-Related Late-Onset Primary Lymphedema
Hypoplasia of lymphatic vessels, Varicose veins, Venous insufficiency, Abnormal lymphatic vessel ... ORPHA:568051
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Temple Syndrome
Hydrocephalus, Bifid uvula ORPHA:254516
Cystic Fibrosis
Ileus, Exocrine pancreatic insufficiency, Recurrent bronchopulmonary infections, Pancreatitis, He... OMIM:219700
47,Xyy Syndrome
Azoospermia, Hydrocephalus, Oligospermia, Male infertility ORPHA:8
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Polymicrogyria, Ventriculomegaly, Pneumonia... ORPHA:1136
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:377
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Narrow palate, Atrial septal defect, Aortic valve stenosis, Gastroesophage... ORPHA:353281
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Pachygyria, Polymicrogyria, Type II lissencephaly, Agyria... OMIM:614643
Craniofacial Microsomia
Hydrocephalus, Cleft palate, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect... OMIM:164210
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Coarc... OMIM:617506
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Macroglossia ORPHA:1914
Marfanoid-Progeroid-Lipodystrophy Syndrome
High palate, Hydrocephalus, High, narrow palate, Mitral valve prolapse, Lateral ventricular asymm... OMIM:616914
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Anal stenosis, Umbilical hernia, Abnormal heart morphology OMIM:601499
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Ventriculomegaly, Simplified... OMIM:615219
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Periventricular heterotopia, Hepatomegaly, Cleft palate, Ventricular septal defect... OMIM:270400
Ring Chromosome Y Syndrome
Female infertility, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism, ... ORPHA:261529
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... ORPHA:1596
Opitz-Kaveggia Syndrome
Anal atresia, Hydrocephalus, Narrow palate, Gray matter heterotopia, Cleft palate, Intestinal mal... OMIM:305450
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele OMIM:614424
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve stenosis,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve stenosis,... ORPHA:353277
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Radial Aplasia, X-Linked
Anal atresia, Hydrocephalus OMIM:312190
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Atrial septal defect, Cleft palate, Anencephaly, Polymicrogyria, Pulmonary hypoplasia OMIM:616546
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased CSF lactate, Gastroesophageal reflux, Hepatomegaly, Hypertrophic cardiomyopathy, Coarct... ORPHA:17
Poland Syndrome
Atrial septal defect, Spina bifida occulta, Dextrocardia, Encephalocele, Abnormality of the liver ORPHA:2911
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia, Pulmonary hypoplasia OMIM:187600
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Cleft palate, Pulmonary hypoplasia, Encephalocele, Abnormal heart morphology ORPHA:1865
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Bresek Syndrome
Hydrocephalus, Aganglionic megacolon, Cleft palate ORPHA:85284
Crouzon Syndrome
Hydrocephalus, Narrow palate ORPHA:207
Hurler Syndrome
Hydrocephalus, Hepatomegaly, Macroglossia, Splenomegaly, Hepatosplenomegaly, Endocardial fibroela... OMIM:607014
Desmosterolosis
Hydrocephalus, Cleft palate, Total anomalous pulmonary venous return, Patent ductus arteriosus, V... OMIM:602398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Agyria, Hydrocephalus, Lissencephaly OMIM:615249
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Hydrocephalus, Mitral valve prolapse, Patent ductus arteriosus, Umbilical hernia OMIM:104350
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Patent ductus arteriosus, Ankylog... ORPHA:250989
Joubert Syndrome With Renal Defect
Hydrocephalus, Cleft palate, Polymicrogyria, Encephalocele, Aganglionic megacolon ORPHA:220497
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
L1 Syndrome
Hydrocephalus, Aganglionic megacolon, Aqueductal stenosis ORPHA:275543
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage ORPHA:624
Rhombencephalosynapsis
Anal atresia, Hydrocephalus, Tracheoesophageal fistula, Ventriculomegaly, Esophageal atresia, Aga... ORPHA:59315
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Cleft palate, Abnormal rectum morphology, Anteriorly placed anus, Aganglionic mega... OMIM:239300
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Velopharyngeal insufficiency, Aqueductal stenosis, Cleft palate, Tetralogy of Fall... OMIM:154400
Parkes Weber Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Spinal arteriovenous malformation, ... ORPHA:90307
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Periventricular heterotopia OMIM:618476
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus, Aganglionic megacolon, Encephalocele ORPHA:2318
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Cleft palate, Dandy-Walker malformation ORPHA:459061
Gaucher Disease
Aortic valve calcification, Hydrocephalus, Hepatomegaly, Abnormal pericardium morphology, Cherry ... ORPHA:355
Hydrolethalus
Hydrocephalus, Cleft palate, Anencephaly, Arrhinencephaly, Bifid uvula, Submucous cleft hard palate ORPHA:2189
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Atrial septal defect, Cleft palate, Intracranial hemorrhage, Ventricular septal de... ORPHA:163979
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Hydrocephalus ORPHA:2180
Oculocerebrocutaneous Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647