Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Reduced FEV1/FVC ratio,... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 25 |
|
Dextrocardia, Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Situs... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 20 |
|
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Respiratory insufficien... |
OMIM:615067 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Bronchiectasis, Double outlet right ventricle, Rhinorrhea, Cough, Recurrent lower r... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 30 |
|
Dextrocardia, Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 17 |
|
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chron... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 14 |
|
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 2 |
|
Dextrocardia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Respiratory ... |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 38 |
|
Dextrocardia, Neonatal respiratory distress, Bronchiectasis, Rhinitis, Situs inversus totalis, Ch... |
OMIM:618063 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Abdominal situs inversus, Situs inversus totalis, Chronic sinusitis, Cough, Decreas... |
OMIM:619607 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Dextrocardia, Situs inversus totalis |
ORPHA:66630 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia |
OMIM:606217 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Wheezing, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 23 |
|
Productive cough, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchie... |
OMIM:615451 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Myelomeningocele, Situs inversus totalis, Restrictive ventilatory defect, Spina bif... |
OMIM:613686 |
Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Recurr... |
OMIM:608644 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus |
OMIM:614779 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... |
OMIM:605376 |
Primary Ciliary Dyskinesia |
|
Wheezing, Pulmonary situs ambiguus, Neonatal respiratory distress, Recurrent sinopulmonary infect... |
ORPHA:244 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... |
OMIM:208530 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect |
OMIM:613751 |
Dextrocardia |
|
Dextrocardia, Abnormal pulmonary situs morphology, Abnormal lung lobation, Situs inversus totalis... |
ORPHA:1666 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Ciliary Dyskinesia, Primary, 28 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus total... |
OMIM:615505 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Hypoplasia of right ventricle, Abnormal aortic valve morphology, Mitral atresia, Si... |
OMIM:616749 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Meningocele, Abnormal tricuspid valve morphology, Respiratory insufficiency |
ORPHA:1759 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Cough, R... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 26 |
|
Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Bronchiectasis, Situs inversus totalis, Cough, Recurrent respirato... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 18 |
|
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Situs inversus total... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 43 |
|
Productive cough, Abdominal situs inversus, Neonatal respiratory distress, Bronchiectasis, Chroni... |
OMIM:618699 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:1538 |
Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Primary Pulmonary Hypoplasia |
|
Dextrocardia, Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumot... |
ORPHA:2257 |
Ciliary Dyskinesia, Primary, 16 |
|
Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, ... |
OMIM:614017 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormal lung lobation |
ORPHA:945 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia |
OMIM:221950 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Scimitar Syndrome |
|
Truncus arteriosus, Mitral atresia, Single ventricle, Abnormal lung morphology, Anomalous pulmona... |
ORPHA:185 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus |
OMIM:617967 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Ciliary Dyskinesia, Primary, 40 |
|
Rhinitis, Abnormal heart morphology, Cough, Situs inversus totalis |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 19 |
|
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus totalis, Respira... |
OMIM:614935 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Ciliary Dyskinesia, Primary, 13 |
|
Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Situs inversus totalis |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 15 |
|
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:613808 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Situs inversus totalis |
OMIM:613095 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:612518 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Myelomeningocele, Pulmonary hypoplasia, Spina bifida, Hydrocephalus, Spina bifida o... |
ORPHA:2437 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Tachypnea, Double outlet right ventricle, Heterota... |
ORPHA:3426 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Transposition of the great arteries, Isomerism, Hydrocephalus |
OMIM:314390 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia |
ORPHA:2863 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Ciliary Dyskinesia, Primary, 22 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus total... |
OMIM:615444 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Abnormal heart morphology, Stillbirth, Hydrocephalus, Respiratory fail... |
OMIM:276950 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Ciliary Dyskinesia, Primary, 35 |
|
Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent res... |
OMIM:617092 |
Holoprosencephaly 5 |
|
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Hydrocephalus, Alobar holoprosenceph... |
OMIM:609637 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Mitral atresia, Double outlet ... |
OMIM:306955 |
Congenital Hydrocephalus |
|
Colpocephaly, Abnormal heart morphology, Hydrocephalus, Ventriculomegaly |
ORPHA:2185 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totali... |
OMIM:244400 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
1Q21.1 Microduplication Syndrome |
|
Tetralogy of Fallot, Hydrocephalus |
ORPHA:250994 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Renpenning Syndrome |
|
Heterotaxy |
ORPHA:3242 |
Developmental And Epileptic Encephalopathy 49 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:617281 |
Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Abnormal cardiac septum morphology |
OMIM:614294 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Neonatal death, Stillbirth, Cardi... |
OMIM:608978 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Situs inversus totalis |
OMIM:615994 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:613154 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Umbilical hernia, Overriding aorta |
OMIM:616145 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Mosaic Trisomy 9 |
|
Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Abnormal lung lobation, Endoc... |
ORPHA:99776 |
Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... |
OMIM:264480 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, T... |
ORPHA:1908 |
Joubert Syndrome With Ocular Defect |
|
Dextrocardia, Apnea, Hydrocephalus, Abnormal pattern of respiration |
ORPHA:220493 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Apnea, Hydrocephalus |
OMIM:300864 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Achondroplasia |
|
Hydrocephalus, Upper airway obstruction |
OMIM:100800 |
Marden-Walker Syndrome |
|
Dextrocardia, Dandy-Walker malformation, Pulmonary hypoplasia |
OMIM:248700 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:83473 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Abdominal situs ambiguus, Righ... |
OMIM:270100 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele |
OMIM:182940 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Abnormal aortic valve morphology, Abnormal heart morphology, Ventriculomegaly, Atri... |
ORPHA:261197 |
Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Holoprosencephaly, Ventriculomegaly, ... |
ORPHA:93274 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Congenital ... |
ORPHA:1686 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... |
OMIM:617205 |
Pallister-Hall-Like Syndrome |
|
Abnormal heart morphology, Pulmonary hypoplasia, Hydrocephalus |
OMIM:241800 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:304340 |
Aicardi-Goutieres Syndrome 4 |
|
Respiratory insufficiency, CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly |
OMIM:610333 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus |
OMIM:300886 |
Hydrocephalus With Associated Malformations |
|
Pulmonary hypoplasia, Hydrocephalus |
OMIM:236640 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Respiratory insufficiency, Ventriculomegaly, Left ventricular hypertro... |
OMIM:613153 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Paroxysmal dyspnea, Mitral atresia, Single ventricle, Exertional dyspnea, Supracardiac total anom... |
ORPHA:99125 |
Ellis Van Creveld Syndrome |
|
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Atrioventricular canal ... |
ORPHA:289 |
Thanatophoric Dysplasia |
|
Respiratory insufficiency, Ventriculomegaly, Atrial septal defect, Hydrocephalus, Pulmonary hypop... |
ORPHA:2655 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Double outlet left ventricle, Abnormal left ventricular outflow tract morpholog... |
ORPHA:216694 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Cardiac-Urogenital Syndrome |
|
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Atrial septa... |
OMIM:618280 |
Craniofacial Dyssynostosis |
|
Hydrocephalus, Umbilical hernia |
ORPHA:1516 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Ventricular septal defect, Double outlet right ventricle, Pulmonic ste... |
OMIM:220210 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Truncus arteriosus, Pulmonary hypoplasia, Situs inversus totalis, St... |
OMIM:615415 |
Thoracoabdominal Syndrome |
|
Ectopia cordis, Anencephaly, Transposition of the great arteries, Hydrocephalus, Pulmonary hypopl... |
OMIM:313850 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse, Hydrocephalus |
ORPHA:2183 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Apneic episodes in infancy, Episodic tachypnea, Ventriculomegaly, Hydr... |
ORPHA:163961 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus |
OMIM:220220 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Atrioventricular canal defect |
OMIM:618929 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal heart morphology, Hydrocephalus, Umbilical hernia, Ventriculomegaly |
OMIM:175700 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus |
ORPHA:397951 |
Metatropic Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus |
ORPHA:2635 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus |
ORPHA:352682 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly, Situs inversus totalis, Tracheomalacia, Respiratory distress |
OMIM:202650 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:183802 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Marden-Walker Syndrome |
|
Dextrocardia, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Abnormal anatomic... |
ORPHA:2461 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis |
OMIM:615382 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Abnormal heart morphology, Dandy-Walker malformation, Tetralogy of Fallot |
ORPHA:96092 |
3C Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, Abnormal mitral valve morphology, Atriovent... |
ORPHA:7 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Umbilical hernia |
ORPHA:380 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Hydrocephalus |
ORPHA:1528 |
Melanosis, Neurocutaneous |
|
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus |
OMIM:249400 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
Distal Trisomy 5Q |
|
Dextrocardia, Ventricular septal defect |
ORPHA:96097 |
Hydrocephalus, Congenital Communicating, 1 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Primum atrial septal defect, Partial atrioventricular canal defect, Situs inversus totalis, Chron... |
OMIM:619608 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:261102 |
Diabetic Embryopathy |
|
Ventricular septal defect, Transposition of the great arteries, Abnormality of the pulmonary arte... |
ORPHA:1926 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hydrocephalus |
OMIM:269920 |
Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
Joubert Syndrome |
|
Abnormal pattern of respiration, Situs inversus totalis, Apnea, Episodic tachypnea, Hydrocephalus |
ORPHA:475 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Dandy-Walker malformation, Hydranencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:225790 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Johanson-Blizzard Syndrome |
|
Dextrocardia, Abnormal cardiac septum morphology |
ORPHA:2315 |
Mental Retardation, Buenos Aires Type |
|
Atrial septal defect, Hydrocephalus |
OMIM:249630 |
Meckel Syndrome, Type 4 |
|
Dandy-Walker malformation, Meningocele, Ventricular septal defect, Anencephaly, Atrial septal def... |
OMIM:611134 |
Mend Syndrome |
|
Dandy-Walker malformation, Aortic valve stenosis, Hydrocephalus |
OMIM:300960 |
Lissencephaly 5 |
|
Hydrocephalus |
OMIM:615191 |
Hec Syndrome |
|
Communicating hydrocephalus, Endocardial fibroelastosis, Cardiomyopathy, Respiratory insufficiency |
ORPHA:2119 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis |
ORPHA:2182 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Respiratory insufficiency |
OMIM:187600 |
Coach Syndrome 2 |
|
Apneic episodes in infancy, Hydrocephalus |
OMIM:619111 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Aase-Smith Syndrome I |
|
Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus |
OMIM:147800 |
Central Precocious Puberty |
|
Hydrocephalus |
ORPHA:759 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:245200 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus, Umbilical hernia |
ORPHA:2181 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus |
OMIM:600991 |
Knobloch Syndrome |
|
Dextrocardia, Hydrocephalus |
ORPHA:1571 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:615287 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dextrocardia, Primum atrial septal defect, Ventricular septal defect, Aqueductal stenosis, Pulmon... |
OMIM:619534 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Thanatophoric Dysplasia Type 1 |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Ventriculomegaly, Atrial septal defec... |
ORPHA:1860 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Inspiratory stridor |
OMIM:207950 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure, Neonatal respiratory distress, Hydrocephalus, Respiratory failure requiring ... |
OMIM:310400 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:1895 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Umbilical hernia |
ORPHA:171839 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:93262 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Anencephaly, Atrial septal defect, Tetralogy of Fallot, Hydrocephalus,... |
ORPHA:1335 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele, Respiratory insufficiency |
ORPHA:1914 |
Emanuel Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, Truncus arteriosus, Cough, Pulmonic stenosi... |
ORPHA:96170 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Respiratory dist... |
OMIM:612863 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Mental Retardation, Autosomal Dominant 35 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency |
OMIM:273730 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hydrocephalus |
ORPHA:163596 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus |
OMIM:613776 |
Meckel Syndrome, Type 6 |
|
Pulmonary hypoplasia, Hydrocephalus, Anencephaly |
OMIM:612284 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Inspiratory stridor, Myelomeningocele, Pneumonia, Apnea, Ventriculomegaly, Hydroceph... |
ORPHA:1136 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus,... |
OMIM:612938 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis |
OMIM:307000 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
Crouzon Disease |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:207 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Dilation of lateral ventricles, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Hydrocephalus |
OMIM:243440 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus |
OMIM:614195 |
Mucopolysaccharidosis, Type Vii |
|
Loud snoring, Chronic bronchitis, Obstructive sleep apnea, Cardiomyopathy, Recurrent upper respir... |
OMIM:253220 |
Tetrasomy 9P |
|
Dextrocardia, Dandy-Walker malformation, Pericarditis, Abnormal mitral valve morphology, Pulmonar... |
ORPHA:3310 |
Mental Retardation, Autosomal Dominant 36 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus |
OMIM:613603 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Bresek Syndrome |
|
Neonatal death, Hydrocephalus |
ORPHA:85284 |
Meacham Syndrome |
|
Ventricular septal defect, Conotruncal defect, Aplasia/Hypoplasia of the lungs, Abnormal lung lob... |
ORPHA:3097 |
Triploidy |
|
Meningocele, Holoprosencephaly, Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:3376 |
Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Umbilical hernia, Heterotaxy |
OMIM:618846 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Dandy-Walker malformation, Atrial septal defect, Hydrocephalus, Sleep apnea, Aortic valve stenosis |
ORPHA:459061 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Hydrocephalus |
OMIM:603387 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Hydrocephalus, Cardiomyopathy, Ventriculomegaly |
ORPHA:370959 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Atrial septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Pericardial effusion, Ventriculomegaly |
OMIM:617822 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Hydrocephalus, Abnormal lung lobation, Ventriculomegaly |
OMIM:300514 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Congenital Sialidosis Type 2 |
|
Abnormal heart morphology, Respiratory tract infection, Hydrocephalus, Umbilical hernia |
ORPHA:93400 |
Whipple Disease |
|
Myocarditis, Pericarditis, Respiratory insufficiency, Pleuritis, Cough, Hydrocephalus |
ORPHA:3452 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, ... |
OMIM:612582 |
Encephalocraniocutaneous Lipomatosis |
|
Dandy-Walker malformation, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subva... |
OMIM:613001 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Pulmonary arterial hypertension, Hydrocephalus, Sleep apnea |
OMIM:616482 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Abnormal heart morphology, Pulmonary hypoplasia, Hydrocephalus, Respiratory insufficiency |
ORPHA:1865 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Respiratory distress, Hydrocephalus, Recurrent respiratory infec... |
ORPHA:3309 |
Isotretinoin-Like Syndrome |
|
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... |
ORPHA:2306 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Umbilical hernia |
ORPHA:536545 |
Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Obstructive sleep apnea, Abnormal heart valve morphology, Hydrocephalus, A... |
OMIM:309900 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Hydrocephalus |
OMIM:614886 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:614424 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly |
ORPHA:238769 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Abnormal heart morphology, Hydrocephalus, Umbilical hernia |
OMIM:601499 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Respiratory insufficiency, Holoprosencephaly, Pulmonic stenosis, Transpos... |
OMIM:253800 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Tetralogy of Fallot, Hydrocephalus, Abnormal pulmonary valve mor... |
ORPHA:974 |
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy |
|
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus |
OMIM:220219 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, ... |
OMIM:614976 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Abnormal heart morphology, Hydrocephalus |
ORPHA:398124 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Distal Tetrasomy 15Q |
|
Dandy-Walker malformation, Abnormal heart morphology, Atrial septal defect, Hydrocephalus, Pulmon... |
ORPHA:314588 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Communicating hydrocephalus |
ORPHA:1861 |
Lymphangioleiomyomatosis |
|
Chylopericardium, Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Hydrocephalus, Restrictive... |
ORPHA:538 |
Microphthalmia, Syndromic 2 |
|
Dextrocardia, Dandy-Walker malformation, Ventricular septal defect, Mitral valve prolapse, Double... |
OMIM:300166 |
Mucopolysaccharidosis Type 1 |
|
Hypertrophic cardiomyopathy, Sinusitis, Abnormal aortic valve morphology, Apnea, Cough, Abnormal ... |
ORPHA:579 |
Tenorio Syndrome |
|
Apnea, Hydrocephalus, Pneumonia, Ventriculomegaly |
OMIM:616260 |
Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Hydrocephalus, Stillbirth |
OMIM:259720 |
Restrictive Dermopathy |
|
Dextrocardia, Short umbilical cord, Small placenta, Transposition of the great arteries, Atrial s... |
ORPHA:1662 |
Mucopolysaccharidosis, Type Vi |
|
Cardiomyopathy, Recurrent upper respiratory tract infections, Abnormal heart valve morphology, Hy... |
OMIM:253200 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Ventricular septal defect, Hydrocephalus |
ORPHA:77298 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate |
ORPHA:90065 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Anencephaly, Respiratory insufficiency, Holoprosencephaly, Neonatal de... |
OMIM:269860 |
Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Mitral stenosis, Hydrocephalus, Aortic valve calcification |
OMIM:231005 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Hurler Syndrome |
|
Endocardial fibroelastosis, Cardiomyopathy, Hydrocephalus, Recurrent respiratory infections, Umbi... |
OMIM:607014 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Abnormal lung lobation |
ORPHA:3301 |
Achondroplasia |
|
Hypoxemia, Obstructive sleep apnea, Central sleep apnea, Hydrocephalus, Restrictive ventilatory d... |
ORPHA:15 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus |
ORPHA:1834 |
Hydrolethalus |
|
Arrhinencephaly, Hydrocephalus, Anencephaly |
ORPHA:2189 |
Fg Syndrome Type 1 |
|
Mitral valve prolapse, Pulmonary arterial hypertension, Ventriculomegaly, Atrial septal defect, H... |
ORPHA:93932 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618476 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Hydrocephalus |
OMIM:615249 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:1647 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Poland Syndrome |
|
Dextrocardia, Atrial septal defect, Spina bifida occulta |
ORPHA:2911 |
Limb Body Wall Complex |
|
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Anencephaly, Myelomeningocele, A... |
ORPHA:2369 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Airway obstruction, Stridor, Abnormal heart morphology, Pulmonary ar... |
ORPHA:505248 |
Peho Syndrome |
|
Recurrent respiratory infections, Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Hydrocephalus |
ORPHA:2409 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Pulmonary hypoplasia, Atrial septal defect, Hydrocephalus, Anencephaly |
OMIM:616546 |
Genitopalatocardiac Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:2075 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Asthma, Atrial septal defect, Hydrocephalus, Allergic rhinitis |
OMIM:618162 |
Meckel Syndrome, Type 3 |
|
Dandy-Walker malformation, Hydrocephalus |
OMIM:607361 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Respiratory insufficiency |
ORPHA:1237 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Campomelic Dysplasia |
|
Tracheobronchomalacia, Abnormal heart morphology, Apnea, Respiratory distress, Hydrocephalus |
OMIM:114290 |
Joubert Syndrome With Renal Defect |
|
Apnea, Hydrocephalus, Abnormal pattern of respiration |
ORPHA:220497 |
16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Ventriculomegaly, Hydrocephalus, Asthma, Sleep apnea |
ORPHA:500055 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea, Hydrocephalus |
ORPHA:2318 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Proteus-Like Syndrome |
|
Bronchogenic cyst, Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
Plasminogen Deficiency, Type I |
|
Dandy-Walker malformation, Recurrent upper respiratory tract infections, Hydrocephalus |
OMIM:217090 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Cardiomegaly, Cardiomyopathy, Ventriculomegaly, Hydrocephalus, Abn... |
ORPHA:228308 |
B4Galt1-Cdg |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:79332 |
Trisomy 17P |
|
Hypoplastic left heart, Aortic valve stenosis, Hydrocephalus |
ORPHA:261290 |
Mucopolysaccharidosis Type 3 |
|
Obstructive sleep apnea, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Recu... |
ORPHA:581 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Abnormal heart valve morphology, Hydrocephalus, Abnormal cardiac septum morphol... |
ORPHA:90652 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Communicating hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Spina bifida, Hydrocephalus, Pulmonary hypoplasia, Aqueductal stenosis |
ORPHA:3412 |
Hurler Syndrome |
|
Rhinitis, Endocardial fibroelastosis, Cardiomyopathy, Abnormal heart valve morphology, Hydrocepha... |
ORPHA:93473 |
Icf Syndrome |
|
Communicating hydrocephalus, Recurrent respiratory infections, Umbilical hernia |
ORPHA:2268 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Choroid plexus cyst, Hydrocephalus, Ventriculomegaly |
OMIM:617866 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia, Hydrocephalus, Aqueductal stenosis |
ORPHA:93259 |
Popov-Chang syndrome |
|
Hydrocephalus, Pulmonic stenosis |
OMIM:618428 |
Holoprosencephaly |
|
Dandy-Walker malformation, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Respirator... |
ORPHA:2162 |
Griscelli Syndrome |
|
Hydrocephalus |
ORPHA:381 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein, Ventriculomegaly |
OMIM:272200 |
Constricting Bands, Congenital |
|
Ectopia cordis, Abnormal lung lobation |
OMIM:217100 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus, Upper airway obstruction |
OMIM:207410 |
Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Abnormal heart morphology, Hydrocephalus |
OMIM:239300 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Hydrocephalus, Neonatal breathing dysregulation, Enlarged foss... |
OMIM:608091 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Ventricular septal defect, Peripheral pulmonary artery stenosis, Hydroce... |
OMIM:619575 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Hydranencephaly |
ORPHA:2839 |
Trisomy 8P |
|
Dandy-Walker malformation, Peripheral pulmonary artery stenosis, Dysplastic aortic valve, Abnorma... |
ORPHA:264450 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal lung lobation, Holoprosencephaly, Hydrocephalus, Abnormal cardiac septum morphology, Umb... |
ORPHA:2166 |
Coccidioidomycosis |
|
Pericarditis, Pneumonia, CSF lymphocytic pleiocytosis, Cough, Pleural empyema, Respiratory distre... |
ORPHA:228123 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
Walker-Warburg Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
ORPHA:899 |
47,Xyy Syndrome |
|
Hydrocephalus, Asthma |
ORPHA:8 |
Trisomy 1Q |
|
Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Mitral valve prolapse, Hydrocephalus, Umbilical hernia |
OMIM:104350 |
Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return |
ORPHA:35107 |
Raine Syndrome |
|
Neonatal death, Pulmonary hypoplasia, Hydrocephalus |
OMIM:259775 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Asymmetric ventricles, Mitral valve prolapse, Hydrocephalus |
OMIM:616914 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Cryptococcosis |
|
Pneumonia, Cough, Respiratory distress, Hydrocephalus, Nodular pattern on pulmonary HRCT, Dyspnea... |
ORPHA:1546 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal heart morphology, Epistaxis, Hydrocephalus, Chylothorax |
ORPHA:137667 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
Gaucher Disease |
|
Respiratory insufficiency, Mitral valve calcification, Pulmonary arterial hypertension, Ventricul... |
ORPHA:355 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hydrocephalus, Umbilical hernia |
ORPHA:1555 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Respiratory insufficiency, Repeated pneumothoraces, Respiratory distress, ... |
ORPHA:536467 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... |
OMIM:245600 |
Endocrine-Cerebroosteodysplasia |
|
Holoprosencephaly, Hydrocephalus, Ventriculomegaly |
OMIM:612651 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ventricular septal defect, Histiocytoid cardiomyopathy, Colpocephaly, Atrial septal defect, Hydro... |
OMIM:309801 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Apnea, Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Monosomy 18Q |
|
Pulmonary valve defects, Dysplastic pulmonary valve, Hydrocephalus, Secundum atrial septal defect... |
ORPHA:1600 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Hydrocephalus, Cardiomyopathy |
ORPHA:157 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Ventricular septal defect, Arrhinencephaly, Tricuspid atresia, Truncus arteriosus, O... |
ORPHA:567 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Ventriculomegaly, Tracheomalacia, Atrial septal defect, Hydrocephalus,... |
ORPHA:96121 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
Craniofacial Microsomia |
|
Ventricular septal defect, Branchial anomaly, Tetralogy of Fallot, Hydrocephalus, Pulmonary hypop... |
OMIM:164210 |
Iniencephaly |
|
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Holoprosencephaly, Spina bifida, Hydroc... |
ORPHA:63259 |
Apert Syndrome |
|
Hydrocephalus, Respiratory insufficiency, Ventriculomegaly |
ORPHA:87 |
Jacobsen Syndrome |
|
Ventricular septal defect, Holoprosencephaly, Atrial septal defect, Hydrocephalus, Recurrent resp... |
OMIM:147791 |
Cardiofaciocutaneous Syndrome 1 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Hydrocephalus, Pulmonic stenosis |
OMIM:115150 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Mirage Syndrome |
|
Hydrocephalus, Aspiration pneumonia |
OMIM:617053 |
Thakker-Donnai Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Communicatin... |
ORPHA:1780 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
H Syndrome |
|
Recurrent pharyngitis, Chronic rhinitis, Hydrocephalus, Bronchiectasis |
ORPHA:168569 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
Meckel Syndrome |
|
Dandy-Walker malformation, Lobar holoprosencephaly, Anencephaly, Situs inversus totalis, Hydrocep... |
ORPHA:564 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Hydrocephalus, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
Desmosterolosis |
|
Total anomalous pulmonary venous return, Hydrocephalus, Ventriculomegaly |
OMIM:602398 |
Cardiofaciocutaneous Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal heart valve morphology, Atrial septal de... |
ORPHA:1340 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Obstructive sleep apnea, Mitral valve prolapse, Hydrocephalus, Umbilical hernia |
OMIM:182212 |
Apert Syndrome |
|
Ventricular septal defect, Hydrocephalus, Overriding aorta, Ventriculomegaly |
OMIM:101200 |
Osteopathia Striata With Cranial Sclerosis |
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Ventricular septal defect, Apnea, Tracheomalacia, Atrial septal defect, Hydrocephalus, Spina bifi... |
OMIM:300373 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Tachypnea, Cardiomegaly, Cough, Pulmonary edema, Hydrocephalus |
ORPHA:137675 |
Shprintzen-Goldberg Syndrome |
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Communicating hydrocephalus, Mitral valve prolapse, Abnormal aortic valve morphology, Apnea, Vent... |
ORPHA:2462 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal mitral valve morphology, Abnormal heart morphology, Abnorma... |
ORPHA:580 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Abnormal heart morphology, Pulmonary arterial hypertension, Respiratory d... |
ORPHA:79282 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Recurrent aspiration pneumonia, Respiratory insufficiency, Abnormal heart ... |
OMIM:612289 |
Joubert Syndrome With Hepatic Defect |
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Apnea, Hydrocephalus, Abnormal pattern of respiration |
ORPHA:1454 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
Monosomy 9Q22.3 |
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Cardiac fibroma, Hydrocephalus, Umbilical hernia, Ventriculomegaly |
ORPHA:77301 |
Medulloblastoma |
|
Neoplasm of the lung, Hydrocephalus |
ORPHA:616 |
Arachnoid Cyst |
|
Holoprosencephaly, Hydrocephalus, Enlarged fossa interpeduncularis |
ORPHA:2356 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... |
ORPHA:363958 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Tracheomalacia, Hydrocephalus |
ORPHA:268249 |
Meckel Syndrome, Type 1 |
|
Dandy-Walker malformation, Anencephaly, Hydrocephalus, Abnormal cardiac septum morphology, Pulmon... |
OMIM:249000 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Tetralogy of Fallot, Hydrocephalus, Aqueductal stenosis |
OMIM:154400 |
Familial Lambdoid Synostosis |
|
Hydrocephalus |
ORPHA:3267 |
Alexander Disease |
|
Hydrocephalus, Respiratory insufficiency, Sleep apnea, Aqueductal stenosis |
ORPHA:58 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Asthma |
OMIM:619377 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Respiratory insuff... |
OMIM:218040 |
Opitz-Kaveggia Syndrome |
|
Abnormal heart morphology, Hydrocephalus, Umbilical hernia |
OMIM:305450 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary artery stenosis, Chronic rhinitis, Apnea, Pulmonary arterial hypertension, Hydrocephalu... |
ORPHA:667 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Mitral valve calcification, Pulmonary arterial hypertension, Spontaneous,... |
ORPHA:2072 |
Orofaciodigital Syndrome I |
|
Abnormal heart morphology, Hydrocephalus, Myelomeningocele |
OMIM:311200 |
Basal Cell Nevus Syndrome |
|
Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma, Hydrocephalus |
OMIM:109400 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus |
OMIM:224400 |
15Q Overgrowth Syndrome |
|
Dandy-Walker malformation, Pulmonary arterial hypertension, Hydrocephalus |
ORPHA:314585 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Dural Sinus Malformation |
|
Hydrocephalus |
ORPHA:97339 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:614643 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dilation of lateral ventricles, Normal pressure hydrocephalus |
ORPHA:300570 |
Aymé-Gripp Syndrome |
|
Pericarditis, Pericardial effusion, Ventriculomegaly, Hydrocephalus |
ORPHA:1272 |
Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
Fetal Akinesia Deformation Sequence 1 |
|
Short umbilical cord, Stillbirth, Small placenta, Hydrocephalus, Pulmonary hypoplasia |
OMIM:208150 |
Osteopetrosis, Autosomal Recessive 7 |
|
Dilation of lateral ventricles, Recurrent pneumonia, Hydrocephalus |
OMIM:612301 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hydrocephalus, Respiratory insufficiency |
ORPHA:163979 |
Smith-Lemli-Opitz Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, Abnormal lung lobation, Holoprosencephaly, ... |
OMIM:270400 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Mitral stenosis, Hydrocephalus, Recurrent respiratory infections, Aort... |
ORPHA:955 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Fanconi Anemia |
|
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Ventriculomegaly, Atrial septal de... |
ORPHA:84 |
Stromme Syndrome |
|
Hydrocephalus, Stillbirth |
OMIM:243605 |
Dubowitz Syndrome |
|
Asthma, Spina bifida occulta, Hydrocephalus, Respiratory insufficiency |
ORPHA:235 |
Hydrolethalus Syndrome 1 |
|
Dandy-Walker malformation, Complete atrioventricular canal defect, Ventricular septal defect, Arr... |
OMIM:236680 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subependymal nodules, Ventriculomegaly |
ORPHA:25 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Semilobar Holoprosencephaly |
|
Central apnea, Neural tube defect, Abnormal pattern of respiration, Abnormal heart morphology, Hy... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Neural tube defect, Abnormal pattern of respiration, Abnormal heart morphology, Hy... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Central apnea, Neural tube defect, Abnormal pattern of respiration, Abnormal heart morphology, Hy... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Neural tube defect, Abnormal pattern of respiration, Abnormal heart morphology, Hy... |
ORPHA:93924 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Tricuspid valve prola... |
ORPHA:2556 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Hydrocephalus, Aqueductal stenosis |
OMIM:619512 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Mitral valve prolapse, Neonatal respiratory distress, Noncommuni... |
ORPHA:666 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:250989 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Umbilical hernia |
OMIM:102500 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Semilobar holoprosencephaly |
OMIM:610828 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Pulmonary embolism |
ORPHA:3205 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy |
OMIM:616084 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Mend Syndrome |
|
Dandy-Walker malformation, Abnormal heart morphology, Aortic valve stenosis, Hydrocephalus |
ORPHA:401973 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele |
ORPHA:268810 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Pulmonary artery aneurysm, Mitral valve prolapse, Bicuspid pulmonary valve... |
OMIM:609192 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Umbilical hernia |
OMIM:136140 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:257300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly |
OMIM:236670 |
Facial Dysmorphism With Multiple Malformations |
|
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Hydrocephalus |
OMIM:227255 |
Fanconi Anemia, Complementation Group D2 |
|
Abnormal heart morphology, Hydrocephalus |
OMIM:227646 |
Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Hydrocephalus, Tricuspid valve prolapse |
ORPHA:261337 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Kabuki Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly |
ORPHA:2322 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
Tetraamelia Syndrome 1 |
|
Pulmonary hypoplasia, Hydrocephalus, Peripheral pulmonary vessel aplasia |
OMIM:273395 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Pulmonary artery aneurysm, Mitral valve prolapse, Bicuspid pulmonary valve... |
OMIM:610168 |
Craniopharyngioma |
|
Hydrocephalus, Sleep apnea |
ORPHA:54595 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hypertrophic cardiomyopathy, Sinusitis, Ventricular septal defect, Mitral valve prolapse, Abnorma... |
ORPHA:363700 |
Tuberous Sclerosis Complex |
|
Cardiac rhabdomyoma, Noncommunicating hydrocephalus, Subependymal nodules, Pulmonary lymphangiomy... |
ORPHA:805 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hydrocephalus, Ventriculomegaly |
OMIM:617011 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Stillbirth |
ORPHA:95699 |
Cerebrooculonasal Syndrome |
|
Hydrocephalus |
OMIM:605627 |
Peters Plus Syndrome |
|
Bicuspid pulmonary valve, Pulmonic stenosis, Ventriculomegaly, Abnormal pulmonary vein morphology... |
ORPHA:709 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Umbilical hernia, Pneumonia |
ORPHA:309282 |
Fraser Syndrome 1 |
|
Abnormal heart morphology, Pulmonary hypoplasia, Hydrocephalus, Myelomeningocele |
OMIM:219000 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Aqueductal stenosis |
OMIM:162200 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Noncompaction cardiomyo... |
OMIM:607872 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Arrhinencephaly, Pulmonary arterial hypertension, Cardiomegaly, Cardio... |
ORPHA:3472 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Neonatal respiratory distress, Abnormal lung lobation, Right ventricul... |
OMIM:312870 |
Meningioma |
|
Abnormality on pulmonary function testing, Progressive pulmonary function impairment, Hydrocephalus |
ORPHA:2495 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Ventricular septal defect, Decreased CSF 5-methyltetrahydrofolate concentr... |
OMIM:619475 |
Baller-Gerold Syndrome |
|
Abnormal heart morphology, Spina bifida occulta, Hydrocephalus |
OMIM:218600 |
Pseudoaminopterin Syndrome |
|
Patent foramen ovale, Hydrocephalus |
ORPHA:221120 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Mesocardia |
ORPHA:2044 |
Hypoplasminogenemia |
|
Dandy-Walker malformation, Hydrocephalus |
ORPHA:722 |
Wiedemann-Rautenstrauch Syndrome |
|
Dandy-Walker malformation, Recurrent respiratory infections, Hydrocephalus |
OMIM:264090 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus |
ORPHA:2658 |
Holoprosencephaly 9 |
|
Holoprosencephaly, Hydrocephalus |
OMIM:610829 |
Neurofibromatosis Type 2 |
|
Hydrocephalus |
ORPHA:637 |
Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Hydrocephalus |
ORPHA:1106 |
Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:194190 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
Focal Dermal Hypoplasia |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Umbilical hernia |
OMIM:305600 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Ventriculomegaly, Pulmonic stenosis, Atrial septal defect, Hydrocephal... |
OMIM:261540 |
Cockayne Syndrome A |
|
Normal pressure hydrocephalus |
OMIM:216400 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
Oeis Complex |
|
Hydrocephalus, Myelomeningocele |
OMIM:258040 |
Cockayne Syndrome B |
|
Normal pressure hydrocephalus |
OMIM:133540 |
Exstrophy-Epispadias Complex |
|
Abnormal heart morphology, Spina bifida, Hydrocephalus |
ORPHA:322 |
Wiedemann-Rautenstrauch Syndrome |
|
Dysplastic pulmonary valve, Congenital malformation of the left heart, Hydrocephalus, Pulmonic st... |
ORPHA:3455 |
Neurofibromatosis Type 1 |
|
Hydrocephalus |
ORPHA:636 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hydrocephalus, Stillbirth |
OMIM:268300 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus |
OMIM:619321 |
Coffin-Siris Syndrome 12 |
|
Tetralogy of Fallot, Noncommunicating hydrocephalus, Patent foramen ovale |
OMIM:619325 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus |
ORPHA:3042 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele |
ORPHA:573278 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |