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