Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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
Primum atrial septal defect, Duodenal atresia, Partial atrioventricular canal defect, Situs inver... 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, 14
Chronic bronchitis, Immotile sperm, Ciliary dyskinesia, Reduced sperm motility, Bronchiectasis, S... OMIM:613807
Ciliary Dyskinesia, Primary, 18
Chronic bronchitis, Immotile sperm, Ciliary dyskinesia, Respiratory insufficiency due to defectiv... OMIM:614874
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Infertility, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Immotile c... OMIM:615482
Ciliary Dyskinesia, Primary, 26
Infertility, Chronic bronchitis, Ciliary dyskinesia, Reduced sperm motility, Bronchiectasis, Resp... OMIM:615500
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Recurrent sinopulmonary infections, Abnormal inferior vena cava morphol... ORPHA:244
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Infertility, Bronchiectasis, Situs inversus totalis, Right aortic arch OMIM:617577
Ciliary Dyskinesia, Primary, 9
Pneumonia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Male infertility, Recurren... OMIM:612444
Ciliary Dyskinesia, Primary, 19
Infertility, Chronic bronchitis, Ciliary dyskinesia, Reduced sperm motility, Bronchiectasis, Resp... OMIM:614935
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Male infertility, Asplenia OMIM:618948
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 36, X-Linked
Infertility, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent ... OMIM:300991
Ciliary Dyskinesia, Primary, 40
Abnormal heart morphology, Situs inversus totalis, Infertility, Azoospermia OMIM:618300
Ciliary Dyskinesia, Primary, 22
Infertility, Chronic bronchitis, Ciliary dyskinesia, Reduced sperm motility, Bronchiectasis, Resp... OMIM:615444
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Abnormal ciliary motili... OMIM:611884
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Ciliary Dyskinesia, Primary, 13
Infertility, Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Situs inversus totalis OMIM:613193
Ciliary Dyskinesia, Primary, 15
Infertility, Chronic bronchitis, Immotile sperm, Ciliary dyskinesia, Bronchiectasis, Situs invers... OMIM:613808
Dextrocardia
Dextrocardia, Abnormality of the spleen, Abnormal pulmonary situs morphology, Meckel diverticulum... ORPHA:1666
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Infertility, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Immotile c... OMIM:606763
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective cili... OMIM:615067
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defectiv... OMIM:615451
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Ciliary Dyskinesia, Primary, 3
Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Rec... OMIM:608644
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Patent ductus arteriosus, ... OMIM:615382
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Abdominal situs inversus, Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 28
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defectiv... OMIM:615505
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis, Infertility, Bronchiectasis OMIM:618063
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Myelomeningocele, Situs inversus totalis, Unilateral vertebral artery hypoplasia, S... OMIM:613686
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Pulmonary hypoplasia, Hepatic fibr... OMIM:615415
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency d... OMIM:616037
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Duodenal atresia, Partial atrioventricular canal defect, Situs inver... OMIM:619608
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... OMIM:605376
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis OMIM:614017
Bardet-Biedl Syndrome 8
Hypogonadism, Situs inversus totalis OMIM:615985
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Ciliary dyskinesia, Pneumonia, Bronchiectasis, Situs inversus totali... OMIM:244400
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Recurrent respiratory i... OMIM:614679
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Cleft palate, Anencephaly, Holoprosencephaly, Situs inver... ORPHA:1908
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Meckel Syndrome, Type 7
Dandy-Walker malformation, Choroid plexus cyst, Portal hypertension, Pancreatic cysts, Right vent... OMIM:267010
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Double outlet right ventricle, Right aortic arch, Transp... OMIM:231060
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia OMIM:612518
Marfanoid Habitus With Situs Inversus
Mitral valve prolapse, Persistent left superior vena cava, Situs inversus totalis, Aortic root an... OMIM:609008
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... ORPHA:185
Hypoglossia With Situs Inversus
High palate, Asplenia, Situs inversus totalis, Microglossia, Polysplenia OMIM:612776
Meacham Syndrome
Abnormality of the spleen, Ventricular septal defect, Conotruncal defect, Aplasia/Hypoplasia of t... ORPHA:3097
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Ventriculomegaly OMIM:615938
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Agnathia-Otocephaly Complex
Cleft palate, Aglossia, Holoprosencephaly, Situs inversus totalis, Microglossia OMIM:202650
Thoraco-Abdominal Enteric Duplication
Meningocele, Dextrocardia, Hepatomegaly, Duodenal stenosis, Abnormal tricuspid valve morphology, ... ORPHA:1759
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Gastroes... OMIM:249270
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:617092
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
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hepatic cysts OMIM:613095
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Polymicrogyria, Hydrocephalus, Ventriculomegaly OMIM:615937
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, High palate, Patent ductus arteriosus, Anal atresia ORPHA:2863
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Hypogonadism OMIM:615994
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Pulmonary hypoplasia, Abnormal descen... ORPHA:99050
Joubert Syndrome
Abnormality of neuronal migration, Aganglionic megacolon, Situs inversus totalis, Polymicrogyria,... ORPHA:475
Pagod Syndrome
Meningocele, Abnormality of neuronal migration, Abnormal aortic morphology, Abnormality of the sp... ORPHA:991
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Gray matter hetero... OMIM:600348
Double Outlet Right Ventricle
Pulmonary artery atresia, Ventricular septal defect, Cleft palate, Truncus arteriosus, Double out... ORPHA:3426
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Cleft palate, Hypogonadotropic hypogonadism, Patent ductus arteriosus,... OMIM:147770
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Coarctation of aorta, Glossop... OMIM:616145
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... OMIM:306955
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria, Hydrocephalus, Ventriculomegaly OMIM:604213
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Hepatomegaly, Ventricular septal defect, Abnormal aortic arch morphology... ORPHA:860
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus, Ventriculomegaly OMIM:618709
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Midgut malrotation, Cleft palate, Double outlet right ventricle, Hypogona... ORPHA:2326
Heterotaxy, Visceral, 5, Autosomal
Duodenal atresia, Single ventricle, Patent ductus arteriosus, Dextrocardia, Ventricular septal de... OMIM:270100
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate OMIM:221950
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Atrioventricular canal defect, Anal atresia, Transposition of the great arteries, Trac... OMIM:314390
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia, Bronchiectasis, Reduced sperm motility, Recurrent pneumonia, Recurrent sinusitis OMIM:619436
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Situs inversus totalis, Microglossia ORPHA:990
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Pachygyria, Atrial septal defect, Polymicrogyria, Hydro... OMIM:603387
Ciliary Dyskinesia, Primary, 41
Infertility, Recurrent sinusitis, Immotile sperm, Bronchiectasis OMIM:618449
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... OMIM:264480
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Single ventricle, Right a... OMIM:601186
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Ciliary dyskinesia, Reduced sperm motility, Bronchiectasis, Abnormal ciliary ... OMIM:612649
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
1Q21.1 Microduplication Syndrome
Gastroesophageal reflux, Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Absence Of The Pulmonary Artery
Truncus arteriosus, Bronchiectasis, Abnormal heart morphology, Abnormal coronary artery morpholog... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Abnormal heart morpho... ORPHA:95430
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Acalvaria
Abnormality of neuronal migration, Cleft palate, Abnormal lung lobation, Holoprosencephaly, Spina... ORPHA:945
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Bicuspid pulmonary va... ORPHA:1686
Cardiac-Urogenital Syndrome
Patent urachus, Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Intestinal m... OMIM:618280
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Bronchiectasis, Recurrent bronchitis, Male infertility, Recurrent sinusitis, Redu... OMIM:617091
Mosaic Trisomy 9
Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Cleft palate, High palate, As... ORPHA:99776
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... OMIM:617478
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Czeizel-Losonci Syndrome
Dextrocardia, High palate, Myelomeningocele, Pulmonary hypoplasia, Spina bifida, Tracheoesophagea... ORPHA:2437
Primary Pulmonary Hypoplasia
Dextrocardia, Cleft palate, Pneumothorax, Recurrent respiratory infections, Secundum atrial septa... ORPHA:2257
Renpenning Syndrome
High, narrow palate, Heterotaxy, Cleft palate, Anal atresia ORPHA:3242
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Abnormal heart morphology, Ventriculomegaly, Hydrocepha... ORPHA:2185
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, High palate, Periventricular heterotopia, Atrioventricular canal defect, Coarctatio... OMIM:618929
Velocardiofacial Syndrome
Interrupted aortic arch, Pulmonary artery atresia, Ventricular septal defect, Cleft palate, Submu... OMIM:192430
Short Rib-Polydactyly Syndrome
Cleft palate, Hepatic fibrosis, Abnormal heart morphology, Situs inversus totalis, Gastrointestin... ORPHA:1505
Biliary, Renal, Neurologic, And Skeletal Syndrome
Esophageal varix, Patent ductus arteriosus, Splenomegaly, Hydrocephalus, Common atrium, Prolonged... OMIM:619534
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Recurrent pneumonia, Reduced sperm motility OMIM:602271
Meckel Syndrome
Dandy-Walker malformation, Cleft palate, Anencephaly, Lobar holoprosencephaly, Asplenia, Congenit... ORPHA:564
Marden-Walker Syndrome
Dextrocardia, High, narrow palate, Pyloric stenosis, High palate, Cleft palate, Dandy-Walker malf... OMIM:248700
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Mitral valve prolapse, Azoospermia, Hydrocephalus, Hypergonadotropic hypogon... ORPHA:2183
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Cleft palate, A... ORPHA:2306
Congenital Total Pulmonary Venous Return Anomaly
Mitral atresia, Single ventricle, Patent ductus arteriosus, Supracardiac total anomalous pulmonar... ORPHA:99125
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Cleft palate, Abnormal cardiac septum morphology OMIM:614294
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Marden-Walker Syndrome
Pyloric stenosis, Dextrocardia, Ventricular septal defect, Cleft palate, Situs inversus totalis, ... ORPHA:2461
Alg3-Cdg
Dandy-Walker malformation, High palate, Coarctation of the descending aortic arch, Neural tube de... ORPHA:79321
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Duodenal atresia, Abnormal lung lobation, Coarctation of aorta, Esopha... OMIM:300514
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal aortic valve morphology, Abnormal heart mo... ORPHA:261197
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Immotile sperm, Ciliary dyskinesia, Bronchiectasis OMIM:612650
Ellis Van Creveld Syndrome
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Atrioventricular canal ... ORPHA:289
3C Syndrome
Abnormality of neuronal migration, High, narrow palate, Ventricular septal defect, Cleft palate, ... ORPHA:7
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Poland Syndrome
Dextrocardia OMIM:173800
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice OMIM:129850
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Patent ductus arteriosus, Hydrocephalus, Vas... OMIM:220220
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Aplasia/Hypoplasia of the lungs, Holoprosencephaly, Patent duc... ORPHA:93274
Diabetic Embryopathy
Ventricular septal defect, Cleft palate, Abnormal aortic morphology, Abnormality of the pancreas,... ORPHA:1926
Joubert Syndrome With Ocular Defect
Dextrocardia, Aganglionic megacolon, Cleft palate, Polymicrogyria, Hydrocephalus ORPHA:220493
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Double outlet right ventricle... OMIM:220210
Klippel-Trénaunay Syndrome
Hepatomegaly, Abnormality of the menstrual cycle, Abnormal tricuspid valve morphology, Patent duc... ORPHA:90308
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Fanconi Anemia, Complementation Group R
Hydrocephalus, Anal atresia OMIM:617244
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Patent ductus ... OMIM:265380
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Hepatomegaly, Ventricular septal defect, Inflammation of the large in... OMIM:614576
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:613154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Ventriculomegaly OMIM:614830
Thanatophoric Dysplasia
Patent ductus arteriosus, Ventriculomegaly, Atrial septal defect, Hydrocephalus, Gray matter hete... ORPHA:2655
Tetrasomy 9P
Oligospermia, Cleft palate, Polymicrogyria, Hydrocephalus, Umbilical hernia, Jaundice, Dextrocard... ORPHA:3310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Lissencephaly, Ventriculomegaly, Left ventricular hypertrophy, Pachygy... OMIM:613153
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Male infertility, Bronchiectasis OMIM:618801
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, High, narrow palate, Dandy-Walker malformation, Abnormal heart morphology, Aplasia/... ORPHA:96092
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Hydrocephalus, Dysgyria ORPHA:352682
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Polymicrogyria, Abnormal cardiac septum morphology, Hydrocephalus ORPHA:83473
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... OMIM:601927
Johanson-Blizzard Syndrome
Dextrocardia, Malabsorption, Anal atresia, Abnormality of the pancreas, Abnormal cardiac septum m... ORPHA:2315
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Ventriculomegaly, Hydrocephalus, Elevated hepatic transaminase, Jaundice ORPHA:858
Holoprosencephaly 5
High palate, Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar h... OMIM:609637
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency, Umbilical hernia ORPHA:199302
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... ORPHA:449400
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Fryns Syndrome
Dandy-Walker malformation, Abnormal aortic morphology, High palate, Cleft palate, Duodenal atresi... ORPHA:2059
Craniofacial Dyssynostosis
Hydrocephalus, Umbilical hernia, Patent ductus arteriosus ORPHA:1516
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Dandy-Walker malformation, Ventricular septal defect, Cleft palate, ... OMIM:612938
Thoracoabdominal Syndrome
Cleft palate, Ectopia cordis, Anencephaly, Patent ductus arteriosus, Transposition of the great a... OMIM:313850
Aicardi-Goutieres Syndrome 4
Hepatomegaly, CSF lymphocytic pleiocytosis, Splenomegaly, Ventriculomegaly, Hepatosplenomegaly, H... OMIM:610333
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:141333
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Ventricular septal defect, Patent ductus arteriosus, Ventriculomegaly, Hydrocep... OMIM:218350
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:617281
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Fried Syndrome
High palate, Hydrocephalus ORPHA:85335
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Pallister-Hall-Like Syndrome
Cleft palate, Abnormal heart morphology, Microglossia, Hydrocephalus, Pulmonary hypoplasia OMIM:241800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Polymicrogyria, Hydrocephalus, Ventriculomegaly OMIM:602501
Emanuel Syndrome
Dandy-Walker malformation, Ventricular septal defect, Infertility, Truncus arteriosus, Cleft pala... ORPHA:96170
Knobloch Syndrome
Dextrocardia, Hydrocephalus, Pyloric stenosis, Patent ductus arteriosus ORPHA:1571
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Abnormal sperm head morphology, Reduced sperm motility ORPHA:320391
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Type II lissencephaly OMIM:615191
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:324416
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Ventriculomegaly, Hydrocephalus, Vascular dilatation, Gray matter hete... OMIM:219730
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Cardiomegaly, Splenomegaly, Hydrocephalus OMIM:269920
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Duodenal atr... OMIM:618846
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Immotile sperm, Ciliary dyskinesia OMIM:242670
Carpenter Syndrome 2
Dextrocardia, High palate, Situs inversus totalis, Patent ductus arteriosus, Transposition of the... OMIM:614976
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Simplified gyral pattern OMIM:619302
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Kleeblattschaedel
Hydrocephalus OMIM:148800
Adams-Oliver Syndrome
Pulmonary artery atresia, Esophageal varix, Congenital hepatic fibrosis, Cirrhosis, Gastrointesti... ORPHA:974
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Hydrocephalus, Bifid uvula OMIM:258320
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Bronchiectasis, Noncommunicating hydrocephalus, Recurrent lower respira... OMIM:618699
Charge Syndrome
Arrhinencephaly, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Patent ductus arteri... OMIM:214800
Autosomal Dominant Polycystic Kidney Disease
Abnormal systemic arterial morphology, Mitral valve prolapse, Pancreatic cysts, Reduced sperm mot... ORPHA:730
Pentalogy Of Cantrell
Ventricular septal defect, Cleft palate, Anencephaly, Absent gallbladder, Atrial septal defect, T... ORPHA:1335
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Rectovaginal fistula, Situs inversus totalis, ... OMIM:243800
Renpenning Syndrome 1
Ventricular septal defect, Cleft palate, High palate, Situs inversus totalis, Anal atresia, Atria... OMIM:309500
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Splenomegaly, Ventriculomegaly, Hydroc... OMIM:615630
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Cleft palate, Bifid uvula, Intesti... ORPHA:35107
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Tortuous cerebral arteries, Aortic... OMIM:619472
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:272
Cutis Laxa, Autosomal Recessive, Type Iib
Gastroesophageal reflux, Hydrocephalus, Prominent superficial veins OMIM:612940
Triploidy
Meningocele, Hepatomegaly, Cleft palate, Abnormality of the gallbladder, Macroglossia, Holoprosen... ORPHA:3376
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Hydrocephalus, Intestinal malrotation OMIM:236640
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Hypo... ORPHA:2876
Pettigrew Syndrome
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly OMIM:304340
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Hydrocephalus, Elevated hepatic t... OMIM:619111
Mental Retardation, Buenos Aires Type
High palate, Atrial septal defect, Hydrocephalus, Intrahepatic biliary atresia OMIM:249630
6P22 Microdeletion Syndrome
Hydrocephalus, Patent ductus arteriosus ORPHA:251046
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Meckel diverticulum, Hydrocephalus OMIM:300864
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Abnormal lung morpholo... ORPHA:33276
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Patent ductus arteriosus, Atrial septal defect, Hy... OMIM:614886
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Midgut malrotation, Cleft palate, Abnormality of the abdom... ORPHA:2409
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Cleft palate, Ventriculomegaly, Right aortic arch, Pachygyria, Gastroe... ORPHA:513456
Ring Chromosome 7 Syndrome
Cleft palate, Holoprosencephaly, Situs inversus totalis, Bifid uvula, Ventriculomegaly, Hypogonad... ORPHA:1449
Distal Tetrasomy 15Q
Dandy-Walker malformation, High palate, Abnormal heart morphology, Patent ductus arteriosus, Atri... ORPHA:314588
Monosomy 18Q
High palate, Patent ductus arteriosus, Aortic aneurysm, Pulmonary valve defects, Dysplastic pulmo... ORPHA:1600
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Congenital Sialidosis Type 2
Hepatomegaly, Cherry red spot of the macula, Abnormal heart morphology, Respiratory tract infecti... ORPHA:93400
Achondroplasia
Hydrocephalus OMIM:100800
Temple Syndrome
High palate, Cleft palate, Hydrocephalus, Bifid uvula OMIM:616222
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid va... OMIM:612863
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Meckel Syndrome, Type 6
Cleft palate, Anencephaly, Hepatic fibrosis, Bile duct proliferation, Hydrocephalus, Cystic liver... OMIM:612284
Craniotelencephalic Dysplasia
Arrhinencephaly, Lissencephaly, Hydrocephalus ORPHA:1528
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormal intestine morphology, Aplasia/Hypoplasia of the lungs, Morpho... ORPHA:1834
Digeorge Syndrome
Interrupted aortic arch, High, narrow palate, Ventricular septal defect, Cleft palate, Truncus ar... OMIM:188400
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Ventriculomegaly, Atrial septal defect... ORPHA:1860
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Greig Cephalopolysyndactyly Syndrome
Abnormal heart morphology, Hydrocephalus, Umbilical hernia, Ventriculomegaly OMIM:175700
Metatropic Dysplasia
Cleft palate, Hydrocephalus, Aplasia/Hypoplasia of the lungs ORPHA:2635
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Meckel Syndrome, Type 3
Dandy-Walker malformation, Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, ... OMIM:607361
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Truncus arteriosus, Pancreatic hypoplasia, Double outlet left ventricle, Paten... OMIM:600001
Congenital Tracheal Stenosis
Ventricular septal defect, Meckel diverticulum, Duodenal atresia, Morphological abnormality of th... ORPHA:141127
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Whipple Disease
Myocarditis, Hepatomegaly, Pericarditis, Pleuritis, Malabsorption, Erectile dysfunction, Splenome... ORPHA:3452
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Hydrocepha... OMIM:231005
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Dysphagia, Meckel diverticulum, Ventriculomegaly, Hydrocephalus ORPHA:163961
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Cleft palate, Hydrocephalus OMIM:243440
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Anencephaly, Bil... OMIM:611134
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Umbilical hernia, Patent ductus arteriosus ORPHA:171839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Ventriculomegaly, Hydrocephalus, Gray matter heterotopia,... OMIM:615287
Classic Galactosemia
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Male infertility, Primary amenorrhea, Prematu... ORPHA:79239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Holoprosencephaly, Lissencephaly, Pulmonic stenosis, Transposition of the... OMIM:253800
Hydrolethalus Syndrome 2
Cleft palate, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Transposition of the great arte... ORPHA:1727
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Holoprosencephaly, Esophageal atresia, Patent ductus arteriosus, Trach... ORPHA:77298
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Hydrocephalus, Arteriovenous malformation, Ventriculomegaly ORPHA:60040
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Cleft palate, Descending thoracic aorta aneurysm, Aortic root aneurysm, Bi... OMIM:610168
Orofaciodigital Syndrome I
Abnormal cortical gyration, Cleft palate, High palate, Myelomeningocele, Hepatic fibrosis, Pancre... OMIM:311200
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Fg Syndrome Type 1
Pyloric stenosis, High palate, Mitral valve prolapse, Abnormal large intestine morphology, Coarct... ORPHA:93932
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Dilated fourth ventricle, Cardiomyopathy, Ventriculomegaly, Polymicrogyria, Hydroce... ORPHA:370959
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Abnormality of the spleen, Esophageal varix, Mitral valve calcification, ... ORPHA:2072
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Hydrocephalus, Vascular dilatation, Ventriculomegaly OMIM:602200
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus OMIM:304100
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Abnormal heart morphology, Splenomegaly, Abnormality of the... ORPHA:398124
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Ventricular septal defect, High palate, Patent ductus arteriosus, Anal... OMIM:612582
Alkuraya-Kucinskas Syndrome
High palate, Pericardial effusion, Ventriculomegaly, Hydrocephalus, Gray matter heterotopia, Liss... OMIM:617822
Mend Syndrome
Dandy-Walker malformation, High palate, Aortic valve stenosis, Hydrocephalus OMIM:300960
Nephronophthisis 18
Hydrocephalus, Portal fibrosis, Cholestasis OMIM:615862
H Syndrome
Amenorrhea, Azoospermia, Bronchiectasis, Malabsorption, Hypogonadism, Hepatosplenomegaly, Varicos... ORPHA:168569
22Q11.2 Deletion Syndrome
Arrhinencephaly, Cleft palate, Truncus arteriosus, Patent ductus arteriosus, Splenomegaly, Gastro... ORPHA:567
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Bicuspid aortic valve, High palate, Aortic aneurysm, Umbilical hernia ORPHA:536545
Restrictive Dermopathy
Short umbilical cord, Dextrocardia, Ascending tubular aorta aneurysm, Small placenta, Patent duct... ORPHA:1662
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Histiocytoid cardiomyopathy, Chordee, Colpocephaly, Anal atresia, Atri... OMIM:309801
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, High, narrow palate, Hepatic calcification, Hepatomegaly, Card... ORPHA:228308
Fanconi Anemia
Cleft palate, Duodenal stenosis, Patent ductus arteriosus, Hydrocephalus, Decreased fertility in ... ORPHA:84
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
Mental Retardation, Autosomal Dominant 35
Pyloric stenosis, Hydrocephalus, Ventriculomegaly OMIM:616355
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Hydrocephalus, Splenomegaly ORPHA:163596
Microphthalmia, Syndromic 2
Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Mitral valve prolapse, Submuc... OMIM:300166
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Aqueductal stenosis, Hydrocephalus, Anal atresia OMIM:276950
Meckel Syndrome, Type 1
Dandy-Walker malformation, Cleft palate, Malformation of the hepatic ductal plate, Anencephaly, A... OMIM:249000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Pancreatic hypoplasia, Hypoplasia of right ve... ORPHA:2255
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Pulmonary artery aneurysm, Cleft palate, Mitral valve prolapse, Descending... OMIM:609192
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Heart And Brain Malformation Syndrome
Dandy-Walker malformation, High, narrow palate, Ventricular septal defect, Interrupted aortic arc... OMIM:616920
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Umbilical hernia ORPHA:380
Chiari Malformation Type Ii
Dysphagia, Myelomeningocele, Spina bifida, Hydrocephalus, Gray matter heterotopia OMIM:207950
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Hydrocephalus OMIM:600991
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, Decreased liver function, High palate, Hydrocephalus OMIM:310400
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Hepatitis, Splenomegaly, Hydrocephalus, Jaundice ORPHA:381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Hydrocephalus OMIM:615181
Williams-Beuren Region Duplication Syndrome
High palate, Hydrocephalus, Patent ductus arteriosus, Ventriculomegaly OMIM:609757
Proteus-Like Syndrome
Communicating hydrocephalus, Bronchogenic cyst, Splenomegaly, Hydrocephalus, Venous insufficiency ORPHA:2969
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Abnormal heart morphology, Ventriculomegaly, Varicose veins, Polymicrogyria, V... OMIM:618343
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Dandy-Walker malformation, Cleft p... ORPHA:899
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Mirage Syndrome
Patent ductus arteriosus, Hypoplastic spleen, Achalasia, Esophageal stricture, Hydrocephalus, Hyp... OMIM:617053
Intellectual Developmental Disorder, X-Linked 30
High palate, Hydrocephalus OMIM:300558
Chromosome 17P13.1 Deletion Syndrome
High palate, Hydrocephalus OMIM:613776
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
High, narrow palate, Hydrocephalus, Umbilical hernia ORPHA:2181
Genitopalatocardiac Syndrome
Cleft palate, Abnormality of the gallbladder, Abnormality of mesentery morphology, Hydrocephalus,... ORPHA:2075
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Villous atrophy, Ileoileal intussusception, Portal fibrosis, He... OMIM:619377
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic... ORPHA:1454
Aase-Smith Syndrome I
Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Hydrocephalus OMIM:147800
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Anencephaly, Hamartoma of tongue, Median cleft lip and p... OMIM:269860
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocephalus OMIM:613603
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the spleen, Pericarditis, Pneumonia, Peritonitis, CSF l... ORPHA:228123
Encephalocraniocutaneous Lipomatosis
Dandy-Walker malformation, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subva... OMIM:613001
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Hydrocephalus, Ventriculomegaly ORPHA:2770
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Hematochezia, Hypoplastic aortic arch ORPHA:261311
1Q44 Microdeletion Syndrome
High palate, Intestinal malrotation, Ventriculomegaly, Hydrocephalus, Abnormal cardiac septum mor... ORPHA:238769
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycorrhachia, Left ventricular hypertrophy, Increased CSF lactate, Hydrocephalus, Abnormal ... ORPHA:90065
Holoprosencephaly
Abnormality of neuronal migration, Dandy-Walker malformation, Ventricular septal defect, Abnormal... ORPHA:2162
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cleft palate, Abnormal heart morphology, Spontaneous abortion, Hydrocephalus, Pulmonary hypoplasia ORPHA:1865
Capillary Malformation-Arteriovenous Malformation
Arteriovenous fistula, Abnormal heart morphology, Chylothorax, Hydrocephalus, Peripheral arteriov... ORPHA:137667
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Krabbe Disease
Hydrocephalus, Increased CSF protein OMIM:245200
Enlarged Parietal Foramina
Cleft palate, Venous malformation, Myelomeningocele ORPHA:60015
Functioning Gonadotropic Adenoma
Oligospermia, Infertility, Amenorrhea, Abnormality of the menstrual cycle, Decreased female libid... ORPHA:91348
Trisomy 8P
Dandy-Walker malformation, Cleft palate, Peripheral pulmonary artery stenosis, Dysplastic aortic ... ORPHA:264450
Apert Syndrome
Pyloric stenosis, Ventricular septal defect, Cleft palate, Ectopic anus, Esophageal atresia, Bifi... OMIM:101200
Trisomy 17P
Cleft palate, High palate, Macroglossia, Patent ductus arteriosus, Hypoplastic left heart, Hydroc... ORPHA:261290
Feingold Syndrome Type 1
Interrupted aortic arch, Tricuspid atresia, Duodenal atresia, Tricuspid stenosis, Abnormal heart ... ORPHA:391641
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Annular pancreas, Patent ductus arteriosus, Atrial septal defect, Hydrocephalus OMIM:618162
Cystic Fibrosis
Cor pulmonale, Hepatomegaly, Rectal prolapse, Bronchiectasis, Recurrent bronchopulmonary infectio... OMIM:219700
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Macroglossia, Cardiomyopathy, Splenomegaly, Recurrent upper respiratory tract infec... OMIM:253200
Gjc2-Related Late-Onset Primary Lymphedema
Varicose veins, Hypoplasia of lymphatic vessels, Venous insufficiency, Abnormal lymphatic vessel ... ORPHA:568051
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Chronic bronchitis, Macroglossia, Cardiomyopathy, Splenomegaly, Recurrent upper res... OMIM:253220
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Aortic dissection, Mitral valve prolapse, Abnormal venous morphology, Aortic... ORPHA:1900
Limb Body Wall Complex
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Abnormal intestine morphology, M... ORPHA:2369
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Aganglionic... OMIM:270400
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins ORPHA:75508
Central Precocious Puberty
Hydrocephalus ORPHA:759
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Vascular ring, Pneumonia, Abnormal heart morpho... ORPHA:353281
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Hepatomegaly, Hepatic calcification, Cardiomyopathy, Pachygyri... ORPHA:157
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Intestinal pseudo-obstruction, Macroglossia, Splenomegaly, Abnormal heart valve mor... OMIM:309900
47,Xyy Syndrome
Oligospermia, Male infertility, Hydrocephalus, Azoospermia ORPHA:8
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency ORPHA:745
Arnold-Chiari Malformation Type Ii
Meningocele, Dysphagia, Myelomeningocele, Pneumonia, Ventriculomegaly, Polymicrogyria, Hydrocepha... ORPHA:1136
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Rectovaginal fistula, Anal atresia, Trans... ORPHA:1780
De Barsy Syndrome
Ventricular septal defect, High palate, Persistent left superior vena cava, Recurrent sinopulmona... ORPHA:2962
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:377
Temple Syndrome
Hydrocephalus, Bifid uvula ORPHA:254516
Distal Monosomy 15Q
Bicuspid aortic valve, Abnormal aortic arch morphology, Cleft palate, Mitral atresia, Coarctation... ORPHA:1596
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormality of the ... ORPHA:330015
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Dandy-Walker malformation, Ventricular septal defect, High palate, Peripheral pulmonary artery st... OMIM:617506
Trisomy 1Q
Ventricular septal defect, Cleft palate, Patent ductus arteriosus, Ventriculomegaly, Anal atresia... ORPHA:261344
Dural Sinus Malformation
Arteriovenous fistula, Carotid cavernous fistula, Abnormal facial vein morphology, Hydrocephalus,... ORPHA:97339
Marfanoid-Progeroid-Lipodystrophy Syndrome
High, narrow palate, High palate, Mitral valve prolapse, Asymmetric ventricles, Aortic root aneur... OMIM:616914
Axenfeld-Rieger Syndrome, Type 2
Abnormal heart morphology, Anal stenosis, Hydrocephalus, Umbilical hernia OMIM:601499
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Hydrocephalus, Ventriculomegaly OMIM:225790
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, High palate, Vascular ring, Pneumonia, Abnormal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, High palate, Vascular ring, Pneumonia, Abnormal... ORPHA:353277
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Gray matte... OMIM:615219
Hurler Syndrome
Hepatomegaly, Endocardial fibroelastosis, Cardiomyopathy, Splenomegaly, Hepatosplenomegaly, Hydro... OMIM:607014
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Lymphatic Malformation 7
Varicose veins, Atrial septal defect, Pulmonary edema, Pericardial effusion OMIM:617300
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Opitz-Kaveggia Syndrome
Pyloric stenosis, Cleft palate, Abnormal heart morphology, Intestinal malrotation, Anal atresia, ... OMIM:305450
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Interrupted aortic arch, Hepatomegaly, Coarctation of aorta, Patent ... ORPHA:17
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Mitral valve prolapse, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia OMIM:104350
Radial Aplasia, X-Linked
Hydrocephalus, Anal atresia OMIM:312190
Floating-Harbor Syndrome
Celiac disease, Persistent left superior vena cava, Coarctation of aorta, Mesocardia, Atrial sept... OMIM:136140
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency ORPHA:743
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Poland Syndrome
Dextrocardia, Spina bifida occulta, Atrial septal defect, Abnormality of the liver ORPHA:2911
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Hydrocephalus, Agyria, Lissencephaly OMIM:615249
Focal Facial Dermal Dysplasia Type Iv
Cleft palate, Hydrocephalus ORPHA:398189
Crouzon Disease
Narrow palate, Hydrocephalus ORPHA:207
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Cleft palate, Atrial septal defect, Hydrocephalus, Aortic valve stenosis ORPHA:459061
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aganglionic megacolon, Cleft palate, Velopharyngeal insufficiency, Pat... OMIM:154400
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hyperphosphatasia With Mental Retardation Syndrome 1
Cleft palate, Aganglionic megacolon, Abnormal heart morphology, Abnormal rectum morphology, Hydro... OMIM:239300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Periventricular heterotopia OMIM:618476
Craniofacial Microsomia
Ventricular septal defect, Cleft palate, Coarctation of aorta, Patent ductus arteriosus, Branchia... OMIM:164210
B4Galt1-Cdg
Dandy-Walker malformation, Hepatomegaly, Splenomegaly, Hydrocephalus, Elevated hepatic transaminase ORPHA:79332
Bresek Syndrome
Aganglionic megacolon, Cleft palate, Hydrocephalus ORPHA:85284
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cleft palate, Anencephaly, Atrial septal defect, Polymicrogyria, Hydrocephalus, Pulmonary hypoplasia OMIM:616546
Gaucher Disease
Hepatomegaly, Dysphagia, Mitral valve calcification, Cherry red spot of the macula, Hepatitis, Ve... ORPHA:355
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Left superior vena cava draining ... OMIM:602782
Mental Retardation, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly OMIM:616362
Foix-Alajouanine Syndrome
Female sexual dysfunction, Male sexual dysfunction, Venous malformation, Arteriovenous fistula ORPHA:79093
Desmosterolosis
Cleft palate, Total anomalous pulmonary venous return, Patent ductus arteriosus, Ventriculomegaly... OMIM:602398
Vitamin K Antagonist Embryofetopathy
Macroglossia, Hydrocephalus, Myelomeningocele ORPHA:1914
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Anal atresia, Ventriculomegaly, Hydrocephalus, Tracheo... ORPHA:59315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Lissencephaly, Ventriculomegaly, Pachygyria, Polymicrogyria, Agyria, S... OMIM:614643
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, High, narrow palate, Ventricular septal defect, Peripheral pulmonary art... OMIM:619575
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Intestinal perforation, Hypogonadism, Intestinal obstruction, Gastroi... ORPHA:85450
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Hydrocephalus ORPHA:2180
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Polymicrogyria, Hydrocephalus, Ventriculomegaly ORPHA:1647
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Fanconi Anemia, Complementation Group D2
Annular pancreas, Abnormal heart morphology, Esophageal atresia, Patent ductus arteriosus, Hydroc... OMIM:227646
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Macroglossia, Abnormal heart morphology, Patent ductus arteriosus, H... ORPHA:505248
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, High palate, Patent ductus arteriosus, Ankyloglossia, Hydrocephalus, Abn... ORPHA:250989
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Hydrolethalus
Arrhinencephaly, Cleft palate, Anencephaly, Bifid uvula, Hydrocephalus, Submucous cleft hard palate ORPHA:2189
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Patent ductus arteriosus, Absen... ORPHA:163979
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Renal Nutcracker Syndrome
Infertility, Dysmenorrhea, Vulval varicose vein, Dyspareunia, Varicose veins, Dilatation of mesen... ORPHA:71273
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Hydrocephalus, Ventriculomegaly ORPHA:2169
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular septal defect, Abnormal aortic arch morpho... ORPHA:96334
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation ORPHA:624
7Q11.23 Microduplication Syndrome
Ventricular septal defect, High palate, Simplified gyral pattern, Ventriculomegaly, Patent ductus... ORPHA:96121
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Malabsorption, Splenomegaly, Abnor... ORPHA:579
Fontaine Progeroid Syndrome
Bicuspid aortic valve, High, narrow palate, Recurrent aspiration pneumonia, Periventricular heter... OMIM:612289
Fanconi Anemia, Complementation Group L
Cleft palate, Esophageal atresia, Anal atresia, Hydrocephalus, Tracheoesophageal fistula OMIM:614083
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Abdominal aortic aneurysm, High palate, Aortic root aneurysm, Aortic arch ... OMIM:617168
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Cleft palate, High palate, Bifid uvula, Intestinal malrotation, Anal a... OMIM:300373
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Cleft palate, Polymicrogyria, Hydrocephalus ORPHA:220497
Vacterl With Hydrocephalus
Arrhinencephaly, Esophageal atresia, Anal atresia, Spina bifida, Tracheoesophageal fistula, Hydro... ORPHA:3412
Mucopolysaccharidosis Type 3
Hepatomegaly, Dysphagia, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Macr... ORPHA:581
Joubert Syndrome 14
Dandy-Walker malformation, Hydrocephalus OMIM:614424
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fistula, Hydrocephalus ORPHA:268249
Icf Syndrome
Communicating hydrocephalus, Macroglossia, Malabsorption, Recurrent respiratory infections, Protr... ORPHA:2268
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Abnormal lung lobation, Anal atresia ORPHA:3301
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Aganglionic megacolon, Hydrocephalus ORPHA:2318
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Mitral valve prolapse, Aortic aneurysm, Narrow palate, Hydrocephalus, Gastroesophage... OMIM:182212
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Ventriculomegaly, Hypogonadism, Hydrocephalus, Gastroesophageal reflux ORPHA:500055
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cleft palate, Mitral valve prolapse, Aortic root aneurysm, Cardiomegaly, L... OMIM:245600
Hurler Syndrome
Hepatomegaly, Macroglossia, Endocardial fibroelastosis, Cardiomyopathy, Splenomegaly, Abnormal he... ORPHA:93473
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cleft palate, Abnormal lung lobation, Holoprosencephaly, Intestinal malrotation, Anal atresia, Hy... ORPHA:2166
Pallister-Hall Syndrome
Ventricular septal defect, Cleft palate, Abnormal lung lobation, Holoprosencephaly, Preductal coa... OMIM:146510
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly, Ventriculomegaly, Hydrocephalus, Increased CSF protein OMIM:272200
Tetrasomy 5P
Recurrent respiratory infections, High palate, Hydrocephalus, Pulmonary hypoplasia ORPHA:3309
Iniencephaly
Dandy-Walker malformation, Duodenal atresia, Myelomeningocele, Anencephaly, Holoprosencephaly, Li... ORPHA:63259
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Venous malformation, Splenomegaly OMIM:612918
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal aortic morphology, Hepatomegaly, Abnormal mitral valve morp... ORPHA:580
Muenke Syndrome
High, narrow palate, Hydrocephalus ORPHA:53271
Craniofacioskeletal Syndrome