| 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 |
